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Title:

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.

Document type:
Article; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Author(s):
Yap, Zheng Yie; Park, Yo Han; Wortmann, Saskia B; Gunning, Adam C; Ezer, Shlomit; Lee, Sukyeong; Duraine, Lita; Wilichowski, Ekkehard; Wilson, Kate; Mayr, Johannes A; Wagner, Matias; Li, Hong; Kini, Usha; Black, Emily Davis; Monaghan, Kristin G; Lupski, James R; Ellard, Sian; Westphal, Dominik S; Harel, Tamar; Yoon, Wan Hee
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 missense variants (hypomorph), and heterozygous missense variants or duplications (antimorph) in ATAD3A lead to neurological syndromes in humans. METHODS: To expand the mutational spectrum of ATAD3A variants a...     »
Journal title abbreviation:
Genome Med
Year:
2021
Journal volume:
13
Journal issue:
1
Fulltext / DOI:
doi:10.1186/s13073-021-00873-3
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/33845882
Print-ISSN:
1756-994X
TUM Institution:
Institut für Humangenetik
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