Genetic and Functional Analysis of Glycosyltransferase 8 Domain-Containing Protein 1 in Taiwanese Patients With Amyotrophic Lateral Sclerosis.

Pei-Chien TsaiKang-Yang JihTing-Yi ShenYi-Hong LiuKon-Ping LinYi-Chu LiaoYi-Chung Lee

Published in: Neurology. Genetics (2021)

GLT8D1 variations account for 0.2% (1/477) of the patients with ALS in Taiwan. These findings expand the spectrum of GLT8D1 variation and support the pathogenic role of GLT8D1 variations in ALS.

Keyphrases

amyotrophic lateral sclerosis
genome wide
protein protein
amino acid
copy number
gene expression
small molecule