Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P2 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 fo...

Full description

Bibliographic Details
Main Authors: Chow, Clement Y. (Author), Landers, John E. (Author), Bergren, Sarah K. (Author), Sapp, Peter C. (Contributor), Grant, Adrienne E. (Author), Jones, Julie M. (Author), Everett, Lesley (Author), Lenk, Guy M. (Author), McKenna-Yasek, Diane M. (Author), Weisman, Lois S. (Author), Figlewicz, Denise (Author), Brown, Robert H. (Author), Meisler, Miriam H. (Author)
Other Authors: Massachusetts Institute of Technology. Department of Biology (Contributor)
Format: Article
Language:English
Published: Elsevier B.V., 2015-04-02T20:28:32Z.
Subjects:
Article
Online Access:Get fulltext

Internet

Get fulltext

Similar Items