Article
Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Jun 2008
Meisler Miriam H, Russ Carsten, Montgomery Kate T, Greenway Matthew, Ennis Sean, Hardiman Orla, Figlewicz Denise A, Quenneville Nicole R, Conibear Elizabeth, Brown Robert H
Abstract excerpt
VPS54 is a component of the Golgi-associated retrograde protein (GARP) complex of vesicle sorting proteins. A missense mutation of Vps54 is responsible for motor neuron disease in the wobbler mouse, but the human gene on chromosome 2p14-15 has not been evaluated as a disease gene. We completely sequenced the 22 coding exons from 96 individuals with sporadic ALS, 96 individuals with familial ALS, and 96 controls....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.