Protein Information

Name acetylcholine receptor (protein family or complex)
Synonyms Acetylcholine receptor; Acetylcholine receptors

Compound Information

Name SMA
CAS sodium 2-chloroacetate

Reference List

PubMed Abstract RScore(About this table)
17613539 Winterer G, Musso F, Konrad A, Vucurevic G, Stoeter P, Sander T, Gallinat J: Association of attentional network function with exon 5 variations of the CHRNA4 gene. Hum Mol Genet. 2007 Sep 15;16(18):2165-74. Epub 2007 Jul 5.


Mutational analyses in xenopus oocyte and mice models indicate that the positive effect of nicotine on attention may be modulated by genetic variations within exon 5 of the alpha4 subunit of the nicotinergic acetylcholine receptor gene CHRNA4.
1(0,0,0,1) Details
20028211 Szigeti R, Chumpitazi BP, Finegold MJ, Ranganathan S, Craigen WJ, Carter BA, Tatevian N: Absent smooth muscle actin immunoreactivity of the small bowel muscularis propria circular layer in association with chromosome 15q11 deletion in Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome. Pediatr Dev Pathol. 2009 Dec 22.


Molecular observations have linked the disease to the neuronal nicotinic acetylcholine receptor (hAChR), namely the absence of functional a3 subunit of the hAChR in patients with MMIHS.
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.


Insufficient SMN protein arrests the post-natal development of the neuromuscular junction (NMJ), impairing the maturation of acetylcholine receptor (AChR) clusters into 'pretzels'.
1(0,0,0,1) 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.


Of note, early developmental patterning of muscles and motor neurons is unaffected in this system as well as acetylcholine receptors clustering.
1(0,0,0,1) Details
19158308 Kong L, Wang X, Choe DW, Polley M, Burnett BG, Bosch-Marce M, Griffin JW, Rich MM, Sumner CJ: Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neurosci. 2009 Jan 21;29(3):842-51.


EPC and MEPC decay time constants were prolonged because of a slowed switch from the fetal acetylcholine receptor (AChR) gamma-subunit to the adult epsilon-subunit.
1(0,0,0,1) Details