| Name | SMN1 |
|---|---|
| Synonyms | BCD541; Component of gems 1; GEMIN 1; SMN; SMN 1; SMN 2; SMN1; SMN2… |
| Name | SMA |
|---|---|
| CAS | sodium 2-chloroacetate |
| PubMed | Abstract | RScore(About this table) | |
|---|---|---|---|
| 19584083 | Garbes L, Riessland M, Holker I, Heller R, Hauke J, Trankle C, Coras R, Blumcke I, Hahnen E, Wirth B: LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to Hum Mol Genet. 2009 Oct 1;18(19):3645-58. Epub 2009 Jul 7. SMA is caused by homozygous absence of SMN1. |
5(0,0,0,5) | Details |
| 19198020 | Liang YH, Chen XL, Yu ZS, Chen CY, Bi S, Mao LG, Zhou BL, Zhang XN: Deletion analysis of SMN1 and NAIP genes in Southern Chinese children with spinal muscular atrophy. J Zhejiang Univ Sci B. 2009 Jan;10(1):29-34. |
5(0,0,0,5) | Details |
| 19625283 | Hendrickson BC, Donohoe C, Akmaev VR, Sugarman EA, Labrousse P, Boguslavskiy L, Flynn K, Rohlfs EM, Walker A, Allitto B, Sears C, Scholl T: Differences in SMN1 allele frequencies among ethnic groups within North America. J Med Genet. 2009 Sep;46(9):641-4. Epub 2009 Jul 21. |
5(0,0,0,5) | Details |
| 18662980 | Rudnik-Schoneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Zerres K: Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J Med Genet. 2008 Oct;45(10):635-8. Epub 2008 Jul 28. The presence of at least one SMN2 gene copy is required for normal embryogenesis. |
5(0,0,0,5) | Details |
| 18575920 | Piepers S, van den Berg LH, Brugman F, Scheffer H, Ruiterkamp-Versteeg M, van Engelen BG, Faber CG, de Visser M, van der Pol WL, Wokke JH: A natural history study of late onset spinal muscular atrophy types 3b and 4. J Neurol. 2008 Sep;255(9):1400-4. Epub 2008 Jun 30. The nearly identical SMN2 gene plays a disease modifying role. |
5(0,0,0,5) | Details |
| 18455159 | El-Khodor BF, Edgar N, Chen A, Winberg ML, Joyce C, Brunner D, Suarez-Farinas M, Heyes MP: Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of spinal muscular atrophy. Exp Neurol. 2008 Jul;212(1):29-43. Epub 2008 Mar 18. Spinal muscular atrophy (SMA) is characterized by selective loss of alpha-motor neurons and is caused by homozygous loss or mutation in the survival motor neuron (SMN1) gene. |
5(0,0,0,5) | Details |
| 19904299 | Burlet P, Gigarel N, Magen M, Drunat S, Benachi A, Hesters L, Munnich A, Bonnefont JP, Steffann J: Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy. Eur J Hum Genet. 2010 Apr;18(4):505-8. Epub 2009 Nov 11. With the detection of a homozygous deletion of the survival motor neuron 1 gene (SMN1), prenatal and preimplantation genetic diagnosis (PGD) for spinal muscular atrophy has become feasible and widely applied. |
5(0,0,0,5) | Details |
| 19062530 | Baranov VS, Kiselev AV, Vakharlovskii VG, Zhelezniakova GIu, Komantsev VN, Malysheva OV, Glotov AS, Ivashchenko TE, Baranov AN: [Molecular genetic basis of proximal spinal muscular atrophy and experience in its pharmaceutical treatment]. Genetika. 2008 Oct;44(10):1325-37. The structures of the SMN1 gene and SMN2 pseudogene, mutations distorting the SMN1 function, the structure and functions of the Smn neurotrophic protein, its role in biogenesis of small nuclear ribonucleoproteins (snRNPs), and the principles and prdblems of molecular diagnosis in SMA are described. |
162(2,2,2,2) | Details |
| 17932121 | Angelozzi C, Borgo F, Tiziano FD, Martella A, Neri G, Brahe C: increases SMN mRNA and protein levels in spinal muscular atrophy cells. J Med Genet. 2008 Jan;45(1):29-31. Epub 2007 Oct 11. Here, we show that a beta2-adrenoceptor agonist, determines a rapid and significant increase in SMN2-full length mRNA and SMN protein in SMA fibroblasts, predominantly by promoting exon 7 inclusion in SMN2 transcripts. |
37(0,1,2,2) | Details |
| 18842367 | Watihayati MS, Fatemeh H, Marini M, Atif AB, Zahiruddin WM, Sasongko TH, Tang TH, Zabidi-Hussin ZA, Nishio H, Zilfalil BA: Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy. Brain Dev. 2009 Jan;31(1):42-5. Epub 2008 Oct 7. |
10(0,0,0,10) | Details |
| 18205293 | Thurmond J, Butchbach ME, Palomo M, Pease B, Rao M, Bedell L, Keyvan M, Pai G, Mishra R, Haraldsson M, Andresson T, Bragason G, Thosteinsdottir M, Bjornsson JM, Coovert DD, Burghes AH, Gurney ME, Singh J: Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy. J Med Chem. 2008 Feb 14;51(3):449-69. Epub 2008 Jan 19. |
9(0,0,0,9) | Details |
| 20025129 | Nagymihaly M, Herczegfalvi A, Timar L, Karcagi V: [Quantitative analysis of the genes determining spinal muscular atrophy] . Ideggyogy Sz. 2009 Nov 30;62(11-12):390-7. The disease is caused by a deficiency of the ubiquitous protein survival of motor neuron (SMN), which is encoded by the SMN1 and SMN2 genes. |
8(0,0,0,8) | Details |
| 18172693 | Brichta L, Garbes L, Jedrzejowska M, Grellscheid SN, Holker I, Zimmermann K, Wirth B: Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy. Hum Genet. 2008 Mar;123(2):141-53. Epub 2008 Jan 3. Autosomal recessive proximal spinal muscular atrophy (SMA) is a neurodegenerative disorder resulting from functional loss of survival motor neuron 1 (SMN1). |
8(0,0,0,8) | Details |
| 18078930 | DiMatteo D, Callahan S, Kmiec EB: Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy. Exp Cell Res. 2008 Feb 15;314(4):878-86. Epub 2007 Oct 24. |
8(0,0,0,8) | Details |
| 18844099 | Long MJ, Song F, Qu YJ, Meng Y, Wang H, Jin YW, Huang SZ: [Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a reliable method for detection of non-homozygous patients with spinal muscular atrophy]. Zhonghua Yi Xue Za Zhi. 2008 May 13;88(18):1259-63. |
8(0,0,0,8) | Details |
| 17647030 | Gomez-Curet I, Robinson KG, Funanage VL, Crawford TO, Scavina M, Wang W: Robust quantification of the SMN gene copy number by real-time TaqMan PCR. Neurogenetics. 2007 Nov;8(4):271-8. Epub 2007 Jul 24. Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutation or deletion of the survival motor neuron gene 1 (SMN1). |
8(0,0,0,8) | Details |
| 17962980 | Sakla MS, Lorson CL: Induction of full-length survival motor neuron by polyphenol botanical compounds. Hum Genet. 2008 Jan;122(6):635-43. Epub 2007 Oct 26. The loss of survival motor neuron-1 (SMN1) is responsible for the development of the neurodegenerative disorder spinal muscular atrophy (SMA). |
8(0,0,0,8) | Details |
| 18971205 | Hauke J, Riessland M, Lunke S, Eyupoglu IY, Blumcke I, El-Osta A, Wirth B, Hahnen E: Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Hum Mol Genet. 2009 Jan 15;18(2):304-17. Epub 2008 Oct 29. Spinal muscular atrophy (SMA), a common neuromuscular disorder, is caused by homozygous absence of the survival motor neuron gene 1 (SMN1), while the disease severity is mainly influenced by the number of SMN2 gene copies. |
8(0,0,0,8) | Details |
| 19134255 | Song F, Qu YJ, Zou LP, Wang LW, Long MJ, Wang X, Yang YL, Chen Q, Wang H, Jin YW: [Molecular analysis of survival motor neuron gene in 338 suspicious children patients with spinal muscular atrophy]. Zhonghua Er Ke Za Zhi. 2008 Dec;46(12):919-23. The SMN1 gene has been recognized to be responsible for SMA because of homozygouse deletions or intragenic mutations in SMN1 results in childhood onset of SMA. |
8(0,0,0,8) | Details |
| 19760790 | Elsheikh B, Prior T, Zhang X, Miller R, Kolb SJ, Moore D, Bradley W, Barohn R, Bryan W, Gelinas D, Iannaccone S, Leshner R, Mendell JR, Mendoza M, Russman B, Smith S, King W, Kissel JT: An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy. Muscle Nerve. 2009 Oct;40(4):652-6. To evaluate the effect of SMN2 copy number on disease severity in spinal muscular atrophy (SMA), we stratified 45 adult SMA patients based on SMN2 copy number (3 vs. 4 copies). |
7(0,0,1,2) | Details |
| 17592254 | Singh RN: Evolving concepts on human SMN pre-mRNA splicing. RNA Biol. 2007 Jan-Mar;4(1):7-10. Epub 2007 Jun 4. SMN1 and SMN2 represent two nearly identical copies of the survival motor neuron gene in humans. |
7(0,0,0,7) | Details |
| 20197730 | Yoon S, Lee CH, Lee KA: Determination of SMN1 and SMN2 Copy Numbers in a Korean Population using Multiplex Ligation-dependent Probe Amplification. Korean J Lab Med. 2010 Feb;30(1):93-6. |
7(0,0,0,7) | Details |
| 20025960 | Baris I, Etlik O, Koksal V, Arican-Baris ST: Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: Simultaneous detection of SMN1 and SMN2 deletion. Mol Cell Probes. 2009 Dec 16. |
7(0,0,0,7) | Details |
| 17924536 | Yuo CY, Lin HH, Chang YS, Yang WK, Chang JG: 5-(N-ethyl-N-isopropyl)-amiloride enhances SMN2 exon 7 inclusion and protein expression in spinal muscular atrophy cells. Ann Neurol. 2008 Jan;63(1):26-34. |
6(0,0,0,6) | Details |
| 19603064 | Tiziano FD, Pinto AM, Fiori S, Lomastro R, Messina S, Bruno C, Pini A, Pane M, D'Amico A, Ghezzo A, Bertini E, Mercuri E, Neri G, Brahe C: SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. Eur J Hum Genet. 2010 Jan;18(1):52-8. Epub . Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous mutations of the SMN1 gene. |
6(0,0,0,6) | Details |
| 19287802 | Jedrzejowska M, Milewski M, Zimowski J, Borkowska J, Kostera-Pruszczyk A, Sielska D, Jurek M, Hausmanowa-Petrusewicz I: Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease. Acta Biochim Pol. 2009;56(1):103-8. Epub 2009 Mar 14. |
6(0,0,0,6) | Details |
| 18533950 | Tran VK, Sasongko TH, Hong DD, Hoan NT, Dung VC, Lee MJ, Gunadi, Takeshima Y, Matsuo M, Nishio H: SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy. Pediatr Int. 2008 Jun;50(3):346-51. |
6(0,0,0,6) | Details |
| 18337101 | Jedrzejowska M, Ryniewicz B, Kabzinska D, Drac H, Hausmanowa-Petrusewicz I, Kochanski A: A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3). Neuromuscul Disord. 2008 Apr;18(4):339-41. Epub 2008 Mar 11. In the present study, we report a single Polish SMA family in which the 17p11.2-p12 duplication causative for the Charcot-Marie-Tooth type 1A disease (CMT1A) was found in addition to a deletion of exons 7 and 8 of the SMN1 gene. |
6(0,0,1,1) | Details |
| 19953646 | Vezain M, Saugier-Veber P, Goina E, Touraine R, Manel V, Toutain A, Fehrenbach S, Frebourg T, Pagani F, Tosi M, Martins A: A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy. Hum Mutat. 2010 Jan;31(1):E1110-25. |
6(0,0,0,6) | Details |
| 18337729 | Jedrzejowska M, Borkowska J, Zimowski J, Kostera-Pruszczyk A, Milewski M, Jurek M, Sielska D, Kostyk E, Nyka W, Zaremba J, Hausmanowa-Petrusewicz I: Unaffected patients with a homozygous absence of the SMN1 gene. Eur J Hum Genet. 2008 Aug;16(8):930-4. Epub 2008 Mar 12. |
6(0,0,0,6) | Details |
| 18672065 | Chen YC, Yuo CY, Yang WK, Jong YJ, Lin HH, Chang YS, Chang JG: Extracellular pH change modulates the exon 7 splicing in SMN2 mRNA. Mol Cell Neurosci. 2008 Oct;39(2):268-72. Epub 2008 Jul 11. |
6(0,0,0,6) | Details |
| 18036306 | Yang XS, Hu YM, Xiao B, Yang QD, Xie Y: [Effects of short hair RNA on the expression of SMN1 gene in human mesenchymal stem cells]. Zhonghua Yi Xue Za Zhi. 2007 Sep 4;87(33):2369-71. |
6(0,0,0,6) | Details |
| 20186123 | Pedrotti S, Bielli P, Paronetto MP, Ciccosanti F, Fimia GM, Stamm S, Manley JL, Sette C: The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy. EMBO J. 2010 Feb 25. |
6(0,0,0,6) | Details |
| 19535574 | Williams JH, Schray RC, Patterson CA, Ayitey SO, Tallent MK, Lutz GJ: Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy. J Neurosci. 2009 Jun 17;29(24):7633-8. Spinal muscular atrophy (SMA) is caused by homozygous mutation or deletion of the SMN1 gene encoding survival of motor neuron (SMN) protein, resulting in the selective loss of alpha-motor neurons. |
6(0,0,0,6) | Details |
| 18974562 | Swaminathan B, Shylashree S, Purushottam M, Taly AB, Nalini A: Deletion analysis of spinal muscular atrophy in southern Indian population. Neurol India. 2008 Jul-Sep;56(3):348-51. The telomeric/functional (SMN1) and the centromeric (SMN2) copies differ from each other in eight nucleotides. |
6(0,0,0,6) | Details |
| 17627822 | Labrum R, Rodda J, Krause A: The molecular basis of spinal muscular atrophy (SMA) in South African black patients. Neuromuscul Disord. 2007 Oct;17(9-10):684-92. Epub 2007 Jul 12. SMN1 is homozygously deleted in approximately 95% of patients worldwide. |
6(0,0,0,6) | Details |
| 19434631 | Shanmugarajan S, Tsuruga E, Swoboda KJ, Maria BL, Ries WL, Reddy SV: Bone loss in survival motor neuron (Smn (-/-) SMN2) genetic mouse model of spinal muscular atrophy. J Pathol. 2009 Sep;219(1):52-60. |
3(0,0,0,3) | Details |
| 19430205 | Singh NN, Shishimorova M, Cao LC, Gangwani L, Singh RN: A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy. RNA Biol. 2009 Jul;6(3):341-50. Epub 2009 Jul 14. Most SMA cases are associated with the low levels of SMN owing to deletion of Survival Motor Neuron 1 (SMN1). |
3(0,0,0,3) | Details |
| 18440926 | Oprea GE, Krober S, McWhorter ML, Rossoll W, Muller S, Krawczak M, Bassell GJ, Beattie CE, Wirth B: Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science. 2008 Apr 25;320(5875):524-7. Homozygous deletion of the survival motor neuron 1 gene (SMN1) causes spinal muscular atrophy (SMA), the most frequent genetic cause of early childhood lethality. |
3(0,0,0,3) | Details |
| 18839960 | Singh J, Salcius M, Liu SW, Staker BL, Mishra R, Thurmond J, Michaud G, Mattoon DR, Printen J, Christensen J, Bjornsson JM, Pollok BA, Kiledjian M, Stewart L, Jarecki J, Gurney ME: DcpS as a therapeutic target for spinal muscular atrophy. . ACS Chem Biol. 2008 Nov 21;3(11):711-22. Spinal muscular atrophy (SMA) is caused by deletion or mutation of both copies of the SMN1 gene, which produces an essential protein known as SMN. |
3(0,0,0,3) | Details |
| 20234094 | Passini MA, Bu J, Roskelley EM, Richards AM, Sardi SP, O'Riordan CR, Klinger KW, Shihabuddin LS, Cheng SH: CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. J Clin Invest. 2010 Mar 15. pii: 41615. doi: 10.1172/JCI41615. Spinal muscular atrophy (SMA) is a neuromuscular disease caused by a deficiency of survival motor neuron (SMN) due to mutations in the SMN1 gene. |
1(0,0,0,1) | Details |
| 19023405 | Cauchi RJ, Davies KE, Liu JL: A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila. PLoS Genet. 2008 Nov;4(11):e1000265. Epub 2008 Nov 21. The survival motor neuron (SMN) protein, the determining factor for spinal muscular atrophy (SMA), is complexed with a group of proteins in human cells. |
1(0,0,0,1) | Details |
| 18603534 | McGovern VL, Gavrilina TO, Beattie CE, Burghes AH: Embryonic motor axon development in the severe SMA mouse. Hum Mol Genet. 2008 Sep 15;17(18):2900-9. Epub 2008 Jul 3. Spinal muscular atrophy (SMA) is caused by reduced levels of survival motor neuron (SMN) protein. |
1(0,0,0,1) | Details |
| 20090376 | Jedrzejowska M, Milewski M, Zimowski J, Zagozdzon P, Kostera-Pruszczyk A, Borkowska J, Sielska D, Jurek M, Hausmanowa-Petrusewicz I: Incidence of Spinal Muscular Atrophy in Poland - More Frequent than Predicted?. Neuroepidemiology. 2010 Jan 15;34(3):152-157. Methods: This study sought to evaluate the incidence of SMA in Poland, on the basis of the prevalence of the SMN1 gene deletion carrier state in the general population, as well as an analysis of all cases of SMA diagnosed in the years 1998-2005. |
3(0,0,0,3) | Details |
| 17682539 | Essawi ML, Effat LK, Shanab GM, Al-Ettribi GM, El-Haronui AA, Karim AM: Molecular analysis of SMN1 and NAIP genes in Egyptian patients with spinal muscular atrophy. Bratisl Lek Listy. 2007;108(3):133-7. |
3(0,0,0,3) | Details |
| 17932457 | Watihayati MS, Zabidi AM, Tang TH, Nishio H, Zilfalil BA: NAIP-deletion analysis in Malaysian patients with spinal muscular atrophy. . Kobe J Med Sci. 2007;53(4):171-5. Two genes, SMN1 and NAIP, have been identified as SMA-related genes. |
3(0,0,0,3) | Details |
| 17625510 | Alias L, Barcelo MJ, Gich I, Estape M, Parra J, Amenedo M, Baiget M, Tizzano EF: Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy. Eur J Hum Genet. 2007 Oct;15(10):1090-3. Epub 2007 Jul 11. |
3(0,0,0,3) | Details |
| 18384992 | Fernandez-Torre JL, Teja JL, Castellanos A, Figols J, Obeso T, Arteaga R: Spinal muscular atrophy type I mimicking critical illness neuropathy in a paediatric intensive care neonate: electrophysiological features. Brain Dev. 2008 Oct;30(9):599-602. Epub 2008 Apr 1. A genetic study confirmed the existence of a homozygous absence of exons 7 and 8 of the telomeric supervival motoneuron gene (SMN1 gene). |
1(0,0,0,1) | Details |
| 18167563 | Lee S, Sayin A, Cauchi RJ, Grice S, Burdett H, Baban D, van den Heuvel M: Genome-wide expression analysis of a spinal muscular atrophy model: towards discovery of new drug targets. PLoS One. 2008 Jan 2;3(1):e1404. A single gene is disrupted in SMA: SMN1 activity is abolished but a second copy of the gene (SMN2) provides limited activity. |
1(0,0,0,1) | Details |
| 19780763 | Rudnik-Schoneborn S, Berg C, Zerres K, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Heller R: Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling. Clin Genet. 2009 Aug;76(2):168-78. We reviewed the natural history and assessed the SMN2 copy number of 66 patients with infantile spinal muscular atrophy (SMA) type I born between 2000 and 2005 in Germany whose diagnosis was confirmed by a homozygous SMN1 deletion in the first 6 months of life. |
5(0,0,0,5) | Details |
| 19159550 | Zeng J, Ke LF, Deng XJ, Cai MY, Tu XD, Lan FH: [Molecular diagnosis of spinal muscular atrophy by multiplex ligation-dependent probe amplification]. Zhonghua Yi Xue Za Zhi. 2008 Dec 16;88(46):3262-4. RESULTS: In complete agreement with the results of conventional PCR-RFLP and allele-specific PCR, MLPA analysis showed that all of the 13 patients had homozygous deletion of the survival of motor neuron 1 (SMN1) gene, and there was significant difference between the SMA severity (type I to type III) and SMN2 copy number (P < 0.05). |
5(0,0,0,5) | Details |
| 17609673 | Vezain M, Saugier-Veber P, Melki J, Toutain A, Bieth E, Husson M, Pedespan JM, Viollet L, Penisson-Besnier I, Fehrenbach S, Bou J, Frebourg T, Tosi M: A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy. Eur J Hum Genet. 2007 Oct;15(10):1054-62. Epub 2007 Jul 4. Different therapeutic strategies are currently evaluated in spinal muscular atrophy (SMA) that are aimed at increasing full-length (FL) mRNA levels produced from the SMN2 gene. |
5(0,0,0,5) | Details |
| 18155522 | Eggermann T, Eggermann K, Elbracht M, Zerres K, Rudnik-Schoneborn S: A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches. Neuromuscul Disord. 2008 Feb;18(2):146-9. Epub 2007 Dec 21. |
3(0,0,0,3) | Details |
| 18752447 | Kocheva SA, Plaseska-Karanfilska D, Trivodalieva S, Kuturec M, Vlaski-Jekic S, Efremov GD: Prenatal diagnosis of spinal muscular atrophy in Macedonian families. Genet Test. 2008 Sep;12(3):391-3. The probands of these families were previously found to be homozygous for a deletion of exons 7 and 8 of SMN1 gene. |
2(0,0,0,2) | Details |
| 20225029 | Tizzano E: Spinal muscular atrophy during human development: where are the early pathogenic findings?. Adv Exp Med Biol. 2009;652:225-35. It is caused by mutations in the survival motor neuron gene 1 (SMN1). |
2(0,0,0,2) | Details |
| 18492800 | Kariya S, Park GH, Maeno-Hikichi Y, Leykekhman O, Lutz C, Arkovitz MS, Landmesser LT, Monani UR: Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet. 2008 Aug 15;17(16):2552-69. Epub 2008 May 20. Studies involving SMA patients and animal models expressing the human SMN2 gene have yielded relatively little information about the earliest cellular consequences of reduced SMN protein. |
2(0,0,0,2) | Details |
| 19286363 | Chari A, Paknia E, Fischer U: The role of RNP biogenesis in spinal muscular atrophy. . Curr Opin Cell Biol. 2009 Jun;21(3):387-93. Epub 2009 Mar 13. One prominent example is spinal muscular atrophy (SMA), a monogenic, neuromuscular disorder caused by reduced levels of functional survival motor neuron (SMN) protein. |
1(0,0,0,1) | Details |
| 19383090 | Lunke S, El-Osta A: The emerging role of epigenetic modifications and chromatin remodeling in spinal muscular atrophy. J Neurochem. 2009 Jun;109(6):1557-69. Epub 2009 Apr 4. Recently the short chain fatty acid a drug used for decades in the management of epilepsy and migraine therapy, has been shown to elevate the levels of the essential survival motor neuron protein in cultured cells. |
1(0,0,0,1) | Details |
| 18075747 | Simic G, Mladinov M, Seso Simic D, Jovanov Milosevic N, Islam A, Pajtak A, Barisic N, Sertic J, Lucassen PJ, Hof PR, Kruslin B: Abnormal motoneuron migration, differentiation, and axon outgrowth in spinal muscular atrophy. Acta Neuropathol. 2008 Mar;115(3):313-26. Epub 2007 Dec 13. All affected subjects were carrying a homozygous deletion of exon 7 in the SMN1 gene. |
1(0,0,0,1) | Details |
| 20161659 | Hastings ML, Berniac J, Liu YH, Abato P, Jodelka FM, Barthel L, Kumar S, Dudley C, Nelson M, Larson K, Edmonds J, Bowser T, Draper M, Higgins P, Krainer AR: Tetracyclines That Promote SMN2 Exon 7 Splicing as Therapeutics for Spinal Muscular Atrophy. Sci Transl Med. 2009 Nov 4;1(5):5ra12. |
5(0,0,0,5) | Details |
| 19271042 | Hasanzad M, Golkar Z, Kariminejad R, Hadavi V, Almadani N, Afroozan F, Salahshurifar I, Shafeghati Y, Kahrizi K, Najmabadi H: Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy. Ann Acad Med Singapore. 2009 Feb;38(2):139-41. The survival motor neuron (SMN) protein is encoded by 2 genes, SMN1 and SMN2. |
5(0,0,0,5) | Details |
| 18794368 | Chen HH, Chang JG, Lu RM, Peng TY, Tarn WY: The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene. Mol Cell Biol. 2008 Nov;28(22):6929-38. Epub 2008 Sep 15. |
5(0,0,0,5) | Details |
| 17717146 | Vitte J, Fassier C, Tiziano FD, Dalard C, Soave S, Roblot N, Brahe C, Saugier-Veber P, Bonnefont JP, Melki J: Refined characterization of the expression and stability of the SMN gene products. Am J Pathol. 2007 Oct;171(4):1269-80. Epub 2007 Aug 23. Spinal muscular atrophy (SMA) is characterized by degeneration of lower motor neurons and caused by mutations of the SMN1 gene. |
2(0,0,0,2) | Details |
| 19517146 | Ymlahi-Ouazzani Q, J Bronchain O, Paillard E, Ballagny C, Chesneau A, Jadaud A, Mazabraud A, Pollet N: Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy. Neurogenetics. 2010 Feb;11(1):27-40. Epub 2009 Jun 11. |
2(0,0,0,2) | Details |
| 19350502 | Zeng J, Lin YH, Yan AZ, Cai MY, Ke LF, Lan FH: [Mutation analysis of SMN gene in a patient and his family with spinal muscular atrophy]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Apr;26(2):139-43. METHODS: Deletion analysis of the SMN1 exon 7 by conventional PCR-restriction fragment length polymorphism (RFLP) and allele-specific PCR, and gene dosage of SMN1 and SMN2 by multiplex ligation-dependent probe amplification (MLPA) were performed for the patient and his parents; reverse transcriptase (RT)-PCR and sequencing were performed for the patient. |
2(0,0,0,2) | Details |
| 18649067 | Tsai LK, Tsai MS, Ting CH, Li H: Multiple therapeutic effects of in spinal muscular atrophy model mice. J Mol Med. 2008 Nov;86(11):1243-54. Epub 2008 Jul 23. VPA elevated SMN protein levels in the spinal cord through SMN2 promoter activation and probable restoration of correct splicing of SMN2 pre-messenger RNA. |
1(0,0,0,1) | Details |
| 19497369 | Bowerman M, Anderson CL, Beauvais A, Boyl PP, Witke W, Kothary R: SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis. Mol Cell Neurosci. 2009 Sep;42(1):66-74. Epub 2009 Jun 1. SMA is caused by mutations or deletions in the ubiquitously expressed survival motor neuron 1 (SMN1) gene. |
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| 20089893 | Ruiz R, Casanas JJ, Torres-Benito L, Cano R, Tabares L: Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice. J Neurosci. 2010 Jan 20;30(3):849-57. Low levels of survival motor neuron (SMN) protein result in spinal muscular atrophy (SMA), a severe genetic disease characterized by motor impairment and premature lethality. |
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| 19228773 | Baughan TD, Dickson A, Osman EY, Lorson CL: Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy. Hum Mol Genet. 2009 May 1;18(9):1600-11. Epub 2009 Feb 19. Spinal muscular atrophy (SMA) is a motor neuron disease caused by the loss of survival motor neuron-1 (SMN1). |
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| 20053895 | Coady TH, Lorson CL: Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy. J Neurosci. 2010 Jan 6;30(1):126-30. SMA is caused by the loss of Survival Motor Neuron-1 (SMN1), however, all patients retain at least one copy of a nearly identical gene called SMN2. |
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| 19329542 | Workman E, Saieva L, Carrel TL, Crawford TO, Liu D, Lutz C, Beattie CE, Pellizzoni L, Burghes AH: A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Hum Mol Genet. 2009 Jun 15;18(12):2215-29. Epub 2009 Mar 27. |
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| 18651653 | Lorson MA, Spate LD, Prather RS, Lorson CL: Identification and characterization of the porcine (Sus scrofa) survival motor neuron (SMN1) gene: an animal model for therapeutic studies. Dev Dyn. 2008 Aug;237(8):2268-78. |
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| 19154529 | Arkblad E, Tulinius M, Kroksmark AK, Henricsson M, Darin N: A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. Acta Paediatr. 2009 May;98(5):865-72. Epub 2009 Jan 20. METHODS: In a population-based study from Western Sweden MLPA was used to determine the copy-numbers of several genes in the SMA region (SMN1, SMN2, BIRC1, GTF2H2 and SERF1A) in SMA-patients and their parents. |
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| 19584893 | Burghes AH, Beattie CE: Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?. Nat Rev Neurosci. 2009 Aug;10(8):597-609. Epub 2009 Jul 8. |
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| 19538222 | Hasanzad M, Azad M, Kahrizi K, Saffar BS, Nafisi S, Keyhanidoust Z, Azimian M, Refah AA, Also E, Urtizberea JA, Tizzano EF, Najmabadi H: Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population. Eur J Neurol. 2009 Jun 15. |
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| 18065780 | Murray LM, Comley LH, Thomson D, Parkinson N, Talbot K, Gillingwater TH: Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum Mol Genet. 2008 Apr 1;17(7):949-62. Epub 2007 Dec 8. Here we have undertaken a detailed morphological investigation of neuromuscular synaptic pathology in the Smn-/-;SMN2 and Smn-/-;SMN2;Delta7 mouse models of SMA. |
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| 19215052 | Ben-Shachar S, Bidwa BM, Potocki L, Lalani SR: Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies. Am J Med Genet A. 2009 Mar;149A(3):515-8. Based on the severity of hypotonia in this infant, molecular analysis for spinal muscular atrophy (SMA) was performed and the common homozygous deletion of exon 7 in the survival of motor neuron 1 gene (SMN1) was identified. |
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| 17964281 | Zou T, Ilangovan R, Yu F, Xu Z, Zhou J: SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity. Biochem Biophys Res Commun. 2007 Dec 28;364(4):850-5. Epub 2007 Oct 25. Deletion or mutation of the survival of motor neuron (SMN1) gene causes Spinal Muscular Atrophy (SMA), a motor neuron degenerative disease. |
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| 19160274 | Bosboom WM, Vrancken AF, van den Berg LH, Wokke JH, Iannaccone ST: Drug treatment for spinal muscular atrophy type I. . Cochrane Database Syst Rev. 2009 Jan 21;(1):CD006281. Participants had to fulfil clinical criteria and, in studies including genetic analysis to confirm the diagnosis, have a deletion or mutation of the SMN1 gene (5q11.2-13.2) The primary outcome measure was to be time from birth until death or full time ventilation. |
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| 19961830 | Gogliotti RG, Hammond SM, Lutz C, Didonato CJ: Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy. Biochem Biophys Res Commun. 2010 Jan 1;391(1):517-22. Epub 2009 Dec 4. Proximal spinal muscular atrophy (SMA) results from loss of the survival motor neuron 1 (SMN1) gene, with retention of its nearly identical homolog, SMN2. |
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| 19897588 | Butchbach ME, Singh J, Thorsteinsdottir M, Saieva L, Slominski E, Thurmond J, Andresson T, Zhang J, Edwards JD, Simard LR, Pellizzoni L, Jarecki J, Burghes AH, Gurney ME: Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet. 2010 Feb 1;19(3):454-67. Epub 2009 Nov 6. SMA is a consequence of low levels of survival motor neuron (SMN) protein. |
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| 18724800 | Dickson A, Osman E, Lorson C: A Negatively-Acting Bifunctional RNA Increases Survival Motor Neuron in vitro and in vivo. Hum Gene Ther. 2008 Aug 25. SMA is caused by the loss of survival motor neuron-1 (SMN1). |
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| 18345520 | Dayangac-Erden D, Topaloglu H, Erdem-Yurter H: A preliminary report on spinal muscular atrophy lymphoblastoid cell lines: are they an appropriate tool for drug screening?. Adv Ther. 2008 Mar;25(3):274-9. Homozygous loss of the survival motor neuron (SMN1) gene causes SMA, and the number of copies of the SMN2 gene modulates the severity of the disease. |
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| 17680523 | Lan FH, Zeng J, Huang HJ, Ke LF, Tu XD, Huang LH, Li HZ, Zheng DZ, Yang BS: [Prenatal diagnosis of 5 fetuses with high risk of developing spinal muscular atrophy]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Aug;24(4):373-7. In allele-specific PCR, exon 7 of both SMN1 and SMN2 gene could be seen when amniotic DNA of fetuses A, C, or D was analyzed, while only exon 7 of SMN2 could be seen when amniotic DNA of fetuses B or E was analyzed. |
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| 19332122 | Turner BJ, Parkinson NJ, Davies KE, Talbot K: Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model. Neurobiol Dis. 2009 Jun;34(3):511-7. Epub 2009 Mar 28. Mutations in the ubiquitously expressed survival motor neuron 1 (SMN1) and superoxide dismutase 1 (SOD1) genes are selectively lethal to motor neurons in spinal muscular atrophy (SMA) and familial amyotrophic lateral sclerosis (ALS), respectively. |
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| 19860664 | Farrar MA, Johnston HM, Grattan-Smith P, Turner A, Kiernan MC: Spinal muscular atrophy: molecular mechanisms. Curr Mol Med. 2009 Sep;9(7):851-62. The most common type of SMA is caused by homozygous disruption of the survival motor neuron 1 (SMN1) gene by deletion, conversion or mutation and results in insufficient levels of survival motor neuron (SMN) protein in motor neurons. |
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| 18689355 | Walker MP, Rajendra TK, Saieva L, Fuentes JL, Pellizzoni L, Matera AG: SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain. Hum Mol Genet. 2008 Nov 1;17(21):3399-410. Epub 2008 Aug 8. Spinal muscular atrophy (SMA) is a recessive neuromuscular disease caused by mutations in the human survival motor neuron 1 (SMN1) gene. |
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| 19160275 | Bosboom WM, Vrancken AF, van den Berg LH, Wokke JH, Iannaccone ST: Drug treatment for spinal muscular atrophy types II and III. Cochrane Database Syst Rev. 2009 Jan 21;(1):CD006282. Participants had to fulfil the clinical criteria and, in studies including genetic analysis to confirm the diagnosis, have a deletion or mutation of the SMN1 gene (5q11.2-13.2) The primary outcome measure was to be change in disability score within one year after the onset of treatment. |
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| 18546169 | Wang CC, Chang JG, Ferrance J, Chen HY, You CY, Chang YF, Jong YJ, Wu SM, Yeh CH: Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy. Electrophoresis. 2008 Jul;29(13):2904-11. |
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| 19309272 | Passon N, Pozzo F, Molinis C, Bregant E, Gellera C, Damante G, Lonigro RI: A simple multiplex real-time PCR methodology for the SMN1 gene copy number quantification. Genet Test Mol Biomarkers. 2009 Feb;13(1):37-42. |
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| 20097677 | Riessland M, Ackermann B, Forster A, Jakubik M, Hauke J, Garbes L, Fritzsche I, Mende Y, Blumcke I, Hahnen E, Wirth B: SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Hum Mol Genet. 2010 Apr 15;19(8):1492-506. Epub 2010 Jan 22. SMA is caused by functional loss of the survival motor neuron gene 1 (SMN1), whereas disease severity is mainly influenced by the number of SMN2 copies. |
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| 18371932 | Hua Y, Vickers TA, Okunola HL, Bennett CF, Krainer AR: Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. Am J Hum Genet. 2008 Apr;82(4):834-48. Epub 2008 Mar 27. |
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| 17805964 | Li J, Chen XH, Xiao PJ, Li L, Lin WM, Huang J, Xu P: Expression pattern and splicing function of mouse ZNF265. . Neurochem Res. 2008 Mar;33(3):483-9. Epub 2007 Sep 1. Splicing analysis with GluR-B and SMN2 minigenes demonstrates that ZNF265-1 inhibits the Flop exon and exon 7 usages in the splicing of two minigenes, respectively. |
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| 19074460 | Rose FF Jr, Mattis VB, Rindt H, Lorson CL: Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy. Hum Mol Genet. 2009 Mar 15;18(6):997-1005. Epub 2008 Dec 12. SMA is caused by loss of functional survival motor neuron 1 (SMN1), resulting in death of spinal motor neurons. |
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| 18521935 | Shafey D, MacKenzie AE, Kothary R: Neurodevelopmental abnormalities in neurosphere-derived neural stem cells from SMN-depleted mice. J Neurosci Res. 2008 Oct;86(13):2839-47. Spinal muscular atrophy (SMA) is a genetic disorder caused by depletion of survival motor neuron (SMN) protein and characterized by degeneration of alpha-motor neurons in the spinal cord. |
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| 18590823 | Tsai LK, Tsai MS, Ting CH, Wang SH, Li H: Restoring Bcl-x (L) levels benefits a mouse model of spinal muscular atrophy. Neurobiol Dis. 2008 Sep;31(3):361-7. Epub 2008 Jun 3. Therefore, over-expression of Bcl-x (L) has a potential for amelioration of SMA, and Bcl-x (L) may be another attractive therapeutic target other than survival motor neuron (SMN) protein for use in future drug screening for SMA. |
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| 17923533 | Jablonka S, Beck M, Lechner BD, Mayer C, Sendtner M: Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy. J Cell Biol. 2007 Oct 8;179(1):139-49. Stimulation of Smn production from the transgenic SMN2 gene by cyclic restores Cav2.2 accumulation and excitability. |
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| 19343312 | Rossoll W, Bassell GJ: Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes. Results Probl Cell Differ. 2009;48:289-326. Spinal muscular atrophy (SMA) is a neurodegenerative disease that results from loss of function of the SMN1 gene, encoding the ubiquitously expressed survival of motor neuron (SMN) protein, a protein best known for its housekeeping role in the SMN-Gemin multiprotein complex involved in spliceosomal small nuclear ribonucleoprotein (snRNP) assembly. |
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| 19267275 | Corcia P, Camu W, Praline J, Gordon PH, Vourch P, Andres C: The importance of the SMN genes in the genetics of sporadic ALS. Amyotroph Lateral Scler. 2009 Mar 6:1-5. The human genome contains two SMN (survival motor neuron) genes: SMN1, the telomeric gene whose homozygous deletion causes spinal muscular atrophy (SMA), and SMN2, the centromeric version whose copy number modulates the phenotype of SMA. |
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| 19504445 | Cao DH, Ren MH, Lin CK, Cui WT, Ma HW, Wu YY, Jin CL: [Gene diagnosis for spinal muscular atrophy and its application study] . Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):306-9. METHODS: Twenty-six patients with SMA were directly tested with PCR-RFLP for exon 7 deletion in the SMN1 gene. |
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| 19378506 | Pieri Pde C, Nogueira Jde A, Marques-Dias MJ, Resende B, Kim CA, Reed UC, Okay TS: A duplex allele-specific amplification PCR to detect SMN1 deletion. Genet Test Mol Biomarkers. 2009 Apr;13(2):205-8. |
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| 19716110 | Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT: A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet. 2009 Sep;85(3):408-13. Epub 2009 Aug 27. |
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| 20140865 | Zhu H, Hu Y, Li J, Yang Y, Wu X: [Studies on the molecular diagnosis and prenatal diagnosis of the spinal muscular atrophy carriers by multiplex ligation-dependent probe.]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Feb 10;27(1):38-41. RESULTS: For all the four patients, the same homozygous deletion of the exons 7 and 8 of the survival motor neuron 1 (SMN1) gene, was detected by PCR-RFLP and MLPA. |
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| 20302191 | Stavarachi M, Apostol P, Toma M, Cimponeriu D, Gavrila L: Spinal muscular atrophy disease: a literature review for therapeutic strategies. J Med Life. 2010 Jan-Mar;3(1):3-9. Currently, there is no cure for the treatment of spinal muscular atrophy (SMA). The main therapeutic direction is focused on the enhancement of SMN expression by increasing the full-length (fl) SMN2 transcript levels, preventing the SMN exon 7 from skipping or from protein stabilizing. |
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| 18771690 | Mattis VB, Butchbach ME, Lorson CL: Detection of human survival motor neuron (SMN) protein in mice containing the SMN2 transgene: applicability to preclinical therapy development for spinal muscular atrophy. J Neurosci Methods. 2008 Oct 30;175(1):36-43. Epub 2008 Aug 15. |
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| 20190275 | Mende Y, Jakubik M, Riessland M, Schoenen F, Rossbach K, Kleinridders A, Kohler C, Buch T, Wirth B: Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN /Smn splicing. Hum Mol Genet. 2010 Mar 18. We have shown earlier that SFRS10 binds SMN1/SMN2 RNA and restores full-length (FL)-SMN2 mRNA levels in vitro. |
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| 19922137 | Corcia P, Camu W, Praline J, Gordon PH, Vourch P, Andres C: The importance of the SMN genes in the genetics of sporadic ALS. Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):436-40. The human genome contains two SMN (survival motor neuron) genes: SMN1, the telomeric gene whose homozygous deletion causes spinal muscular atrophy (SMA), and SMN2, the centromeric version whose copy number modulates the phenotype of SMA. |
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| 17804187 | Guillot N, Cuisset JM, Cuvellier JC, Hurtevent JF, Joriot S, Vallee L: Unusual clinical features in infantile Spinal Muscular Atrophies. . Brain Dev. 2008 Mar;30(3):169-78. Epub 2007 Sep 4. Diagnostic criteria were proposed by the International SMA Consortium (ISMAC) to differentiate"classical" proximal SMA caused by homozygous deletion or conversion of the SMN1 gene (5q13) from atypical SMA unlinked to chromosome 5q (non-5q-SMA entities). |
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| 19648294 | Farooq F, Balabanian S, Liu X, Holcik M, MacKenzie A: p38 Mitogen-activated protein kinase stabilizes SMN mRNA through RNA binding protein HuR. Hum Mol Genet. 2009 Nov 1;18(21):4035-45. Epub 2009 Jul 31. A potential treatment strategy for SMA is to upregulate levels of SMN protein originating from the SMN2 gene compensating in part for the absence of functional SMN1 gene. |
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| 20022887 | Simon CM, Jablonka S, Ruiz R, Tabares L, Sendtner M: Ciliary neurotrophic factor-induced sprouting preserves motor function in a mouse model of mild spinal muscular atrophy. Hum Mol Genet. 2010 Mar 15;19(6):973-86. Epub 2009 Dec 18. Proximal spinal muscular atrophy (SMA) is caused by homozygous loss or mutation of the SMN1 gene on human chromosome 5. |
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| 19628962 | Irimura S, Kitamura K, Kato N, Saiki K, Takeuchi A, Gunadi, Matsuo M, Nishio H, Lee MJ: HnRNP C1/C2 may regulate exon 7 splicing in the spinal muscular atrophy gene SMN1. Kobe J Med Sci. 2009 Mar 10;54(5):E227-36. |
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| 18941511 | Coady TH, Baughan TD, Shababi M, Passini MA, Lorson CL: Development of a single vector system that enhances trans-splicing of SMN2 transcripts. PLoS One. 2008;3(10):e3468. Epub 2008 Oct 22. |
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| 19050931 | Alias L, Bernal S, Fuentes-Prior P, Barcelo MJ, Also E, Martinez-Hernandez R, Rodriguez-Alvarez FJ, Martin Y, Aller E, Grau E, Pecina A, Antinolo G, Galan E, Rosa AL, Fernandez-Burriel M, Borrego S, Millan JM, Hernandez-Chico C, Baiget M, Tizzano EF: Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet. 2009 Feb;125(1):29-39. Epub 2008 Dec 3. |
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| 20085811 | Michaud M, Arnoux T, Bielli S, Durand E, Rotrou Y, Jablonka S, Robert F, Giraudon-Paoli M, Riessland M, Mattei MG, Andriambeloson E, Wirth B, Sendtner M, Gallego J, Pruss RM, Bordet T: Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy. Neurobiol Dis. 2010 Apr;38(1):125-35. Epub 2010 Jan 18. Spinal muscular atrophy (SMA) is caused by insufficient levels of the survival motor neuron (SMN) protein leading to muscle paralysis and respiratory failure. |
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| 18720039 | Shaw SW, Cheng PJ, Chang SD, Lin YT, Hung CC, Chen CP, Su YN: Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography system. Acta Obstet Gynecol Scand. 2008;87(9):960-8. SMA status was demonstrated by genotyping and total copy number determinations of SMN1 and SMN2. |
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| 19150990 | Heier CR, DiDonato CJ: Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo. Hum Mol Genet. 2009 Apr 1;18(7):1310-22. Epub 2009 Jan 15. SMA is caused by loss or mutation of the survival motor neuron 1 gene, SMN1, with retention of a nearly identical copy gene, SMN2. |
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| 17937857 | Yang XS, Luo XM, Xiao B, Li XZ: [An experimental research on differentiation of mesenchymal stem cells derived from children with spinal muscular atrophy into neuron-like cells]. Zhongguo Dang Dai Er Ke Za Zhi. 2007 Oct;9(5):453-6. Two children without SMN1 gene deletion were used as controls. |
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| 19480685 | Chen WJ, Dong WJ, Lin XZ, Lin MT, Murong SX, Wu ZY, Wang N: Rapid diagnosis of spinal muscular atrophy using high-resolution melting analysis. BMC Med Genet. 2009 May 29;10:45. BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disorder caused by mutations of the survival motor neuron 1 (SMN1) gene. |
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| 19373809 | Wang CC, Chang JG, Jong YJ, Wu SM: Universal multiplex PCR and CE for quantification of SMN1/SMN2 genes in spinal muscular atrophy. Electrophoresis. 2009 Apr;30(7):1102-10. |
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| 18078382 | Wilson PG, Cherry JJ, Schwamberger S, Adams AM, Zhou J, Shin S, Stice SL: An SMA project report: neural cell-based assays derived from human embryonic stem cells. Stem Cells Dev. 2007 Dec;16(6):1027-41. SMA is caused by inactivation of the survival motor neuron-1 (SMN1) gene. |
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| 18071605 | Derakhshandeh-Peykar P, Esmaili M, Ousati-Ashtiani Z, Rahmani M, Babrzadeh F, Farshidi S, Attaran E, Sajedifar MM, Farhud DD: Molecular analysis of the SMN1 and NAIP genes in Iranian patients with spinal muscular atrophy. Ann Acad Med Singapore. 2007 Nov;36(11):937-41. |
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| 19758605 | Horne C, Young PJ: Is RNA manipulation a viable therapy for spinal muscular atrophy? . J Neurol Sci. 2009 Dec 15;287(1-2):27-31. Epub 2009 Sep 15. There are two copies of the SMN gene: SMN1 and SMN2. |
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| 18266240 | Menke LA, Poll-The BT, Clur SA, Bilardo CM, van der Wal AC, Lemmink HH, Cobben JM: Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature. Am J Med Genet A. 2008 Mar 15;146A(6):740-4. Spinal muscular atrophy type I (SMA I) was diagnosed by detecting a homozygous deletion in the survival motor neuron 1 gene (SMN1). |
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| 19019300 | Oskoui M, Kaufmann P: Spinal muscular atrophy. . Neurotherapeutics. 2008 Oct;5(4):499-506. The clinical severity is inversely related to the copy number of SMN2, a modifying gene producing some full-length SMN transcript. |
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| 20225030 | Vitte J, Attali R, Warwar N, Gurt I, Melki J: Spinal muscular atrophy. . Adv Exp Med Biol. 2009;652:237-46. SMA are caused by mutations of the survival of motor neuron gene (SMN1) leading to a reduction of the SMN protein amount. |
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| 19405914 | Omrani O, Bonyadi M, Barzgar M: Molecular analysis of the SMN and NAIP genes in Iranian spinal muscular atrophy patients. Pediatr Int. 2009 Apr;51(2):193-6. Results: Homozygous deletion of SMN1 exons 7 and/or 8 were identified in 68 out of 75 patients (90%). |
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| 18178576 | Gavrilina TO, McGovern VL, Workman E, Crawford TO, Gogliotti RG, DiDonato CJ, Monani UR, Morris GE, Burghes AH: Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet. 2008 Apr 15;17(8):1063-75. Epub 2008 Jan 4. Spinal muscular atrophy (SMA) is caused by loss of the survival motor neuron gene (SMN1) and retention of the SMN2 gene. |
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| 20194437 | Cho S, Dreyfuss G: A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity. Genes Dev. 2010 Mar 1;24(5):438-42. |
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| 19664890 | Sasongko TH, Gunadi, Yusoff S, Atif AB, Fatemeh H, Rani A, Marini M, Aziz CB, Zabidi-Hussin Z, Nishio H, Zilfalil BA: Screening of the LIX1 gene in Japanese and Malaysian patients with SMA and/or SMA-like disorder. Brain Dev. 2009 Aug 5. Background: The majority of spinal muscular atrophy (SMA) patients showed homozygous deletion or other mutations of SMN1. |
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| 20019802 | Baumer D, Lee S, Nicholson G, Davies JL, Parkinson NJ, Murray LM, Gillingwater TH, Ansorge O, Davies KE, Talbot K: Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet. 2009 Dec;5(12):e1000773. Epub 2009 Dec 18. Spinal muscular atrophy is a severe motor neuron disease caused by inactivating mutations in the SMN1 gene leading to reduced levels of full-length functional SMN protein. |
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| 18680723 | Rose FF Jr, Meehan PW, Coady TH, Garcia VB, Garcia ML, Lorson CL: The Wallerian degeneration slow (Wld (s)) gene does not attenuate disease in a mouse model of spinal muscular atrophy. Biochem Biophys Res Commun. 2008 Oct 10;375(1):119-23. Epub 2008 Aug 3. SMA is caused by deficiency of survival motor neuron (SMN) protein levels. |
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| 19945425 | Butchbach ME, Rose FF Jr, Rhoades S, Marston J, McCrone JT, Sinnott R, Lorson CL: Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy. Biochem Biophys Res Commun. 2010 Jan 1;391(1):835-40. Epub 2009 Nov 27. Several research groups have reported varying average lifespans of SMNDelta7 SMA mice (SMN2 (+/+);SMNDelta7 (+/+);mSmn (-/-)), the most commonly used mouse model for preclinical therapeutic candidate testing. |
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| 19848583 | Dickson A, Osman E, Lorson CL: A negatively acting bifunctional RNA increases survival motor neuron both in vitro and in vivo. Hum Gene Ther. 2008 Nov;19(11):1307-15. SMA is caused by the loss of survival motor neuron-1 (SMN1). |
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| 17953949 | Girardet A, Fernandez C, Claustres M: Efficient strategies for preimplantation genetic diagnosis of spinal muscular atrophy. Fertil Steril. 2008 Aug;90(2):443.e7-12. Epub 2007 Oct 22. DESIGN: Two multiplex PGD protocols were developed allowing the detection of the common homozygous deletion of the telomeric spinal muscular atrophy gene (SMN1), together with two microsatellites located on each side of SMN1. |
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| 18166199 | Liang WC, Yuo CY, Chang JG, Chen YC, Chang YF, Wang HY, Ju YH, Chiou SS, Jong YJ: The effect of hydroxyurea in spinal muscular atrophy cells and patients. J Neurol Sci. 2008 May 15;268(1-2):87-94. Epub 2007 Dec 31. BACKGROUND: Spinal muscular atrophy (SMA) is a degenerative motor neuron disease caused by homozygous mutations of the survival motor neuron 1 (SMN1) gene. |
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| 17895963 | Gabanella F, Butchbach ME, Saieva L, Carissimi C, Burghes AH, Pellizzoni L: Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS One. 2007 Sep 26;2(9):e921. Spinal muscular atrophy (SMA) is a motor neuron disease caused by reduced levels of the survival motor neuron (SMN) protein. |
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| 19733665 | Rak K, Lechner BD, Schneider C, Drexl H, Sendtner M, Jablonka S: blocks excitability in SMA type I mouse motor neurons. . Neurobiol Dis. 2009 Dec;36(3):477-87. Epub 2009 Sep 4. Based on its potential to up-regulate SMN expression from the SMN2 gene in fibroblasts and lymphoblastoid cell lines from SMA patients, we analysed the effects of VPA in isolated motoneurons from Smn (-/-);SMN2 mice, a model for SMA type I. |
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| 19103745 | Burnett BG, Munoz E, Tandon A, Kwon DY, Sumner CJ, Fischbeck KH: Regulation of SMN protein stability. Mol Cell Biol. 2009 Mar;29(5):1107-15. Epub 2008 Dec 22. All SMA patients retain one or more copies of the SMN2 gene, but the principal protein product of SMN2 lacks exon 7 (SMNDelta7) and is unable to compensate for a deficiency of FL-SMN. |
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| 19010792 | Meyer K, Marquis J, Trub J, Nlend Nlend R, Verp S, Ruepp MD, Imboden H, Barde I, Trono D, Schumperli D: Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation. Hum Mol Genet. 2009 Feb 1;18(3):546-55. Epub 2008 Nov 13. In spinal muscular atrophy (SMA), the leading genetic cause of early childhood death, the survival motor neuron 1 gene (SMN1) is deleted or inactivated. |
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| 18782569 | Zeng J, Lan F, Deng X, Ke L, Tu X, Huang L, Zheng D, Zhu Z: Evaluation of an in-house protocol for prenatal molecular diagnosis of SMA in Chinese. Clin Chim Acta. 2008 Dec;398(1-2):78-81. Epub 2008 Aug 23. About 95% of SMA patients have homozygous loss of SMN1 which can be detected by conventional PCR-RFLP testing. |
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| 19948047 | Mattis VB, Fosso MY, Chang CW, Lorson CL: Subcutaneous administration of TC007 reduces disease severity in an animal model of SMA. BMC Neurosci. 2009 Nov 30;10:142. It is caused by the loss of functional Survival Motor Neuron 1 (SMN1). |
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| 18367439 | Parker GC, Li X, Anguelov RA, Toth G, Cristescu A, Acsadi G: Survival motor neuron protein regulates apoptosis in an in vitro model of spinal muscular atrophy. Neurotox Res. 2008 Jan;13(1):39-48. |
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| 18990310 | Wang CH, Lunn MR: Spinal muscular atrophy: advances in research and consensus on care of patients. Curr Treat Options Neurol. 2008 Nov;10(6):420-8. The second group was identified based on their ability to modify SMN2 gene expression. |
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| 18579378 | Cobben JM, Lemmink HH, Snoeck I, Barth PA, van der Lee JH, de Visser M: Survival in SMA type I: a prospective analysis of 34 consecutive cases. Neuromuscul Disord. 2008 Jul;18(7):541-4. Epub 2008 Jun 24. The three cases alive at the end of the study had either three or an unknown number of SMN2 copies, which is in agreement with previously described cases showing longer survival with increasing number of SMN2 copies. |
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| 19210911 | Burnett BG, Crawford TO, Sumner CJ: Emerging treatment options for spinal muscular atrophy. . Curr Treat Options Neurol. 2009 Mar;11(2):90-101. SMA is caused by mutation of the survival motor neuron 1 (SMN1) gene and deficiency of the survival motor neuron (SMN) protein. |
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| 19625298 | Mattis VB, Ebert AD, Fosso MY, Chang CW, Lorson CL: Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model. Hum Mol Genet. 2009 Oct 15;18(20):3906-13. Epub 2009 Jul 21. Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality and is caused by the loss of a functional SMN1 gene. |
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| 19701774 | Gladman JT, Chandler DS: Intron 7 conserved sequence elements regulate the splicing of the SMN genes. Hum Genet. 2009 Aug 23. Proximal spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of the survival motor neuron (SMN) protein. |
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| 19997596 | Geib T, Hertel KJ: Restoration of full-length SMN promoted by adenoviral vectors expressing RNA antisense oligonucleotides embedded in U7 snRNAs. PLoS One. 2009 Dec 8;4(12):e8204. It is caused by deletions or mutations of the survival of motor neuron 1 gene (SMN1). |
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| 20176735 | Wen HL, Lin YT, Ting CH, Lin-Chao S, Li H, Hsieh-Li HM: Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy. Hum Mol Genet. 2010 Feb 25. Spinal muscular atrophy (SMA), a motor neuron degeneration disorder, is caused by either mutations or deletions of survival motor neuron 1 (SMN1) gene which result in insufficient SMN protein. |
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| 20097679 | Bowerman M, Beauvais A, Anderson CL, Kothary R: Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. Hum Mol Genet. 2010 Apr 15;19(8):1468-78. Epub 2010 Jan 22. SMA is caused by mutations or deletions in the survival motor neuron 1 (SMN1) gene, leading to aberrant neuromuscular junction (NMJ) development and the loss of spinal cord alpha-motor neurons. |
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| 20188701 | Todd AG, Shaw DJ, Morse R, Stebbings H, Young PJ: SMN and the Gemin proteins form sub-complexes that localise to both stationary and dynamic neurite granules. Biochem Biophys Res Commun. 2010 Mar 26;394(1):211-6. Epub 2010 Feb 25. Childhood spinal muscular atrophy (SMA) is caused by a reduction in survival motor neuron (SMN) protein. |
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| 18601974 | Mattis VB, Bowerman M, Kothary R, Lorson CL: A SMNDelta7 read-through product confers functionality to the SMNDelta7 protein. Neurosci Lett. 2008 Sep 5;442(1):54-8. Epub 2008 Jun 26. SMA is a recessive disorder caused by the mutation or deletion of Survival Motor Neuron-1 (SMN1). |
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| 19663601 | Kang SH, Cho SI, Chae JH, Chung KN, Ra EK, Kim SY, Seong MW, Kim JY, Park SS: False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy. Genet Test Mol Biomarkers. 2009 Aug;13(4):511-3. |
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| 19642194 | Liu H, Shafey D, Moores JN, Kothary R: Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy. J Neurosci Res. 2010 Jan;88(1):111-22. Deletions or mutations in survival of motor neuron 1 (SMN1) cause motor neuron loss and spinal muscular atrophy (SMA), a neuromuscular disorder, with the most severe type manifesting in utero. |
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| 19141976 | Yang XS, Hu YM, Xiao B: [Establishment of spinal muscular atrophy cell model by RNAi] . Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2008 Dec;33(12):1108-12. OBJECTIVE: To establish spinal muscular atrophy (SMA) cell model by blocking the expression of SMN1 gene with shRNA. |
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| 18629520 | Simic G: Pathogenesis of proximal autosomal recessive spinal muscular atrophy. . Acta Neuropathol. 2008 Sep;116(3):223-34. Epub 2008 Jul 16. A presumptive series of 10 pathogenetic events for SMA is proposed as follows: (1) deletions or mutations of the SMN1 gene, (2) increased SMN mRNA decay and reduction in full-length functional SMN protein, (3) impaired motoneuron axono- and dendrogenesis, (4) failure of motoneurons to form synapses with corticospinal fibers from upper motoneurons, (5) abnormal motoneuron migration towards ventral spinal roots, (6) inappropriate persistence of motoneuron apoptosis due to impaired differentiation and motoneuron displacement, (7) substantial numbers of motoneurons continuing to migrate abnormally ("heterotopic motoneurons") and entering into the ventral roots, (8) attracted glial cells following these heterotopic motoneurons, which form the glial bundles of ventral roots, (9) impaired axonal transport of actin, causing remaining motoneurons to become chromatolytic, and (10) eventual death of all apoptotic, heterotopic and chromatolytic neurons, with apoptosis being more rapid and predominating in the earlier stages, with death of heterotopic and chromatolytic neurons occurring more slowly by necrosis during the later stages of SMA. |
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| 18298318 | Basel-Vanagaite L, Taub E, Drasinover V, Magal N, Brudner A, Zlotogora J, Shohat M: Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel. Genet Test. 2008 Mar;12(1):53-6. It is caused by a mutation in the survival motor neuron gene 1 (SMN1) gene. |
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| 17998247 | Tadesse H, Deschenes-Furry J, Boisvenue S, Cote J: KH-type splicing regulatory protein interacts with survival motor neuron protein and is misregulated in spinal muscular atrophy. Hum Mol Genet. 2008 Feb 15;17(4):506-24. Epub 2007 Nov 12. |
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