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Article

Aggregation of E121K mutant D-amino acid oxidase and ubiquitination-mediated autophagy mechanisms leading to amyotrophic lateral sclerosis.

Journal of the neurological sciences - 15 Jan 2024

Dave Upma, Narain Priyam, Mishra Dibyakanti, Gomes James

Abstract excerpt

Amyotrophic Lateral Sclerosis (ALS) is a terminal adult-onset neuromuscular disorder. Our group has been studying this illness and previously reported novel mutations and rare mutations in a study using next-generation sequencing of DNA samples from Indian ALS patients. In this paper, we focus on the E121K mutation in the DAO gene to understand how it leads to ALS. Our experiments in SH-SY5Y cells indicate that...

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Identifiers

PMID: 38134563
DOI: 10.1016/j.jns.2023.122845

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