Article
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis.
Human molecular genetics - 15 Oct 2009
Sabatelli Mario, Eusebi Fabrizio, Al-Chalabi Ammar, Conte Amelia, Madia Francesca, Luigetti Marco, Mancuso Irene, Limatola Cristina, Trettel Flavia, Sobrero Fabrizia, Di Angelantonio Silvia, Grassi Francesca, Di Castro Amalia, Moriconi Claudia, Fucile Sergio, Lattante Serena, Marangi Giuseppe, Murdolo Marina, Orteschi Daniela, Del Grande Alessandra, Tonali Pietro, Neri Giovanni, Zollino Marcella
Abstract excerpt
Sporadic amyotrophic lateral sclerosis (SALS) is a motor neuron degenerative disease of unknown etiology. Current thinking on SALS is that multiple genetic and environmental factors contribute to disease liability. Since neuronal acetylcholine receptors (nAChRs) are part of the glutamatergic pathway, we searched for sequence variants in CHRNA3, CHRNA4 and CHRNB4 genes, encoding neuronal nicotinic AChR subunits,...
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