| Name | SMA1 |
|---|---|
| Synonyms | BCD541; Component of gems 1; GEMIN 1; GEMIN1; SMA 1; SMA 2; SMA 3; SMA 4… |
| Name | SMA |
|---|---|
| CAS | sodium 2-chloroacetate |
| PubMed | Abstract | RScore(About this table) | |
|---|---|---|---|
| 20235248 | Cheng X, Bai X, Jing S, Ebert H, Prehm M, Tschierske C: Self-Assembly of Imidazolium-Based Rodlike Ionic Liquid Crystals: Transition from Lamellar to Micellar Organization. Chemistry. 2010 Mar 16. In the smectic phases this gives rise to a transition from bilayer (SmA (2)) to monolayer smectic (SmA) phases. |
7(0,0,1,2) | 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. Three types of SMA are recognized depending on the age of onset, the maximum muscular activity achieved, and survivorship: SMA1, SMA2, and SMA3. |
5(0,0,0,5) | 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. SMA usually results from loss of the SMN1 (survival of motor neuron 1) gene, which leads to selective motor neuron degeneration. |
4(0,0,0,4) | Details |
| 18280980 | Ryan MM: The use of invasive ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion against. Paediatr Respir Rev. 2008 Mar;9(1):51-4; discussion 55-6. Epub 2008 Feb 1. Without ventilatory support, premature death from respiratory insufficiency is universal in children with spinal muscular atrophy type 1 (SMA1). |
3(0,0,0,3) | 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. In a group of 1039 patients, 55% of whom were male, the greatest disproportion was in the SMA1 (F/M = 0.78) and SMA3b (F/M = 0.45) forms. |
3(0,0,0,3) | Details |
| 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. |
2(0,0,0,2) | 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. In the second family, four of six siblings are affected (three suffer from SMA2 and one from SMA3a), each with three SMN2 copies. |
2(0,0,0,2) | Details |
| 18093976 | Piazzon N, Rage F, Schlotter F, Moine H, Branlant C, Massenet S: In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein. J Biol Chem. 2008 Feb 29;283(9):5598-610. Epub 2007 Dec 19. |
2(0,0,0,2) | 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. |
2(0,0,0,2) | Details |
| 18633133 | Nguyen thi Man, Humphrey E, Lam LT, Fuller HR, Lynch TA, Sewry CA, Goodwin PR, Mackenzie AE, Morris GE: A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy. Neurology. 2008 Nov 25;71(22):1757-63. Epub 2008 Jul 16. Severity is variable and is inversely related to the levels of survival of motor neurons (SMN) protein. |
2(0,0,0,2) | Details |
| 19928837 | Fuller HR, Man NT, Lam le T, Thanh le T, Keough RA, Asperger A, Gonda TJ, Morris GE: The SMN interactome includes Myb-binding protein 1a. . J Proteome Res. 2010 Jan;9(1):556-63. The survival of motor neurons protein (SMN) interacts, directly or indirectly, with a large number of other proteins and reduced levels of SMN cause the inherited disorder spinal muscular atrophy (SMA). |
1(0,0,0,1) | 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. |
1(0,0,0,1) | Details |
| 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. |
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. SMA1 predominated among the diagnoses, accounting for 69% of all cases. |
1(0,0,0,1) | Details |
| 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. |
1(0,0,0,1) | 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. Although both SMN1 and SMN2 encode the same Smn protein amino acid sequence, the loss of SMN1 and incorrect splicing of SMN2 have the consequence that Smn protein levels are insufficient for the survival of motor neurons. |
1(0,0,0,1) | Details |
| 17976539 | Trulzsch B, Garnett C, Davies K, Wood M: Knockdown of SMN by RNA interference induces apoptosis in differentiated P19 neural stem cells. Brain Res. 2007 Dec 5;1183:1-9. Epub 2007 Sep 21. Spinal muscular atrophy (SMA) is a common neurodegenerative disease that is caused by mutations in the survival of motor neuron gene (SMN), leading to reduced levels of the SMN protein in affected individuals. |
1(0,0,0,1) | Details |
| 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. Survival of motor neuron 2, centromeric (SMN2) is a gene that modifies the severity of spinal muscular atrophy (SMA), a motor-neuron disease that is the leading genetic cause of infant mortality. |
1(0,0,0,1) | Details |
| 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. |
1(0,0,0,1) | Details |
| 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). |
1(0,0,0,1) | 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). |
1(0,0,0,1) | Details |
| 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. |
1(0,0,0,1) | 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. Spinal muscular atrophy (SMA) is a common pediatric neuromuscular disorder caused by insufficient levels of the survival of motor neuron (SMN) protein. |
1(0,0,0,1) | Details |
| 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. Spinal muscular atrophy (SMA) is caused by homozygous survival of motor neurons 1 (SMN1) gene deletions, leaving a duplicate gene, SMN2, as the sole source of SMN protein. |
1(0,0,0,1) | Details |
| 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. Progressive spinal muscular atrophy (SMA), the most prevalent hereditary lower motor neuron disease, is caused by mutations in the telomeric copy of the survival of motor neuron (SMN1) gene. |
1(0,0,0,1) | Details |
| 18485868 | Zhang Z, Lotti F, Dittmar K, Younis I, Wan L, Kasim M, Dreyfuss G: SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing. Cell. 2008 May 16;133(4):585-600. The survival of motor neurons (SMN) protein is essential for the biogenesis of small nuclear RNA (snRNA)-ribonucleoproteins (snRNPs), the major components of the pre-mRNA splicing machinery. |
1(0,0,0,1) | Details |
| 18686978 | Ma K, Shahkhatuni AA, Somashekhar BS, Gowda GA, Tong Y, Khetrapal CL, Weiss RG: Room-temperature and low-ordered, amphotropic-lyotropic ionic liquid crystal phases induced by in phosphonium halides. Langmuir. 2008 Sep 2;24(17):9843-54. Epub 2008 Aug 8. The temperature ranges of the induced smectic A 2 (SmA 2) liquid-crystalline phases can be very broad and the onset temperatures can be below room temperature depending upon the concentration of the or water and the structure of the |
1(0,0,0,1) | 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 survival of motor neuron gene (SMN) and neuronal apoptosis inhibitory protein (NAIP) play a primary role. |
1(0,0,0,1) | Details |