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Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis
Human Molecular Genetics, 09/24/09
Sabatelli M et al. – The authors suggest that these gain–of–function variants might contribute to disease liability in a subset of SALS because Ca2+ signals mediate nAChR's neuromodulatory effects, including regulation of glutamate release and control of cell survival.
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