Ian Fox

Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis

Johnathan Cooper‐Knock, Tobias Moll, Tennore Ramesh, Lydia M. Castelli et autres

Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disorder without effective neuroprotective therapy. Known genetic variants impair pathways, including RNA processing, axonal transport, and protein homeostasis. We report ALS-causing mutations within the gene encoding the glycosyltransferase GLT8D1. Exome sequencing in an autosomal-dominant …

gb, at, be, ie, es, tr, us (code pays fourni par la source)

Mutations in the Glycosyltransferase Domain of GLT8D1 Cause Amyotrophic Lateral Sclerosis

Johnathan Cooper‐Knock, Tobias Moll, Tennore Ramesh, Lydia M. Castelli et autres

gb, be, bg, ca, ie, es, tr, us, it (code pays fourni par la source)