Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
About this item
Full title
Author / Creator
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 and Yoon, Wan Hee
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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 du...
Alternative Titles
Full title
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_0d5b7ae4a6ea4c1ebee8d4fe1f9fe5f7
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0d5b7ae4a6ea4c1ebee8d4fe1f9fe5f7
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-021-00873-3
