Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8042885/
https://www.ncbi.nlm.nih.gov/pubmed/33845882
http://dx.doi.org/10.1186/s13073-021-00873-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8042885/
https://www.ncbi.nlm.nih.gov/pubmed/33845882
http://dx.doi.org/10.1186/s13073-021-00873-3

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