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...

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Bibliographic Details
Main Authors: 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.
Other Authors: Massachusetts Institute of Technology. Department of Biology
Format: Article
Language:en_US
Published: Elsevier B.V. 2015
Online Access:http://hdl.handle.net/1721.1/96364

Internet

http://hdl.handle.net/1721.1/96364

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