Article
An Unstable ATG2A Variant Causes a Neurodegenerative Disorder via Impaired Autophagy and Proteotoxic Stress in Brain Atrophy.
Clinical genetics - 1 Jan 2026
Rehan Ahmad S, Zeyaullah Md, AlShahrani Abdullah M, Qavi Danish, Altijani Abdelrhman A G, Khan Mohammad Suhail, Muzammil Khursheed
Abstract excerpt
Autophagy is a critical cellular process for maintaining proteostasis and neuronal health. Disruption of this pathway is increasingly recognized in pediatric neurodegenerative disorders. Here, we study a novel previously uncharacterized homozygous and autosomal recessive missense variant, c.1372G>C (p.Gly433Ala), in the autophagy gene ATG2A, identified in a 3-year-old female proband presenting with developmental...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.