Article
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
American journal of human genetics - 1 Jan 2009
Chow Clement Y, Landers John E, Bergren Sarah K, Sapp Peter C, Grant Adrienne E, Jones Julie M, Everett Lesley, Lenk Guy M, McKenna-Yasek Diane M, Weisman Lois S, Figlewicz Denise, Brown Robert H, Meisler Miriam H
Abstract excerpt
Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P(2) are responsible for the recessive peripheral-nerve disorder CMT4J. We now describe nonsynonymous variants of FIG4 in 2% (9/473) of patients with amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS). Heterozygosity for a deleterious allele of FIG4 appears to be a risk factor for ALS and PLS, extending the list of known ALS genes...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.