Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

Abstract Background ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane-anchored protein involved in diverse processes including mitochondrial dynamics, mitochondrial DNA organization, and cholesterol metabolism. Biallelic deletions (null), recessive m...

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Bibliographic Details
Main Authors: Zheng Yie Yap, Yo Han Park, Saskia B. Wortmann, Adam C. Gunning, Shlomit Ezer, Sukyeong Lee, Lita Duraine, Ekkehard Wilichowski, Kate Wilson, Johannes A. Mayr, Matias Wagner, Hong Li, Usha Kini, Emily Davis Black, Kristin G. Monaghan, James R. Lupski, Sian Ellard, Dominik S. Westphal, Tamar Harel, Wan Hee Yoon
Format: Article
Language:English
Published: BMC 2021-04-01
Series:Genome Medicine
Subjects:
ATAD3A
Mitochondria
Disease
Autosomal recessive
Autophagy
Neurogenesis
Online Access:https://doi.org/10.1186/s13073-021-00873-3

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