Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function

Isocitrate dehydrogenase (IDH) is an enzyme required for the production of α-ketoglutarate from isocitrate. IDH3 generates the NADH used in the mitochondria for ATP production, and is a tetramer made up of two α, one β and one γ subunit. Loss-of-function and missense mutations in both IDH3A and IDH3...

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Detalles Bibliográficos
Autores principales: Findlay, Amy S., Carter, Roderick N., Starbuck, Becky, McKie, Lisa, Nováková, Klára, Budd, Peter S., Keighren, Margaret A., Marsh, Joseph A., Cross, Sally H., Simon, Michelle M., Potter, Paul K., Morton, Nicholas M., Jackson, Ian J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307916/
https://www.ncbi.nlm.nih.gov/pubmed/30478029
http://dx.doi.org/10.1242/dmm.036426

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307916/
https://www.ncbi.nlm.nih.gov/pubmed/30478029
http://dx.doi.org/10.1242/dmm.036426

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