Article
Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function.
Disease models & mechanisms - 18 Dec 2018
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
Abstract excerpt
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 IDH3B have previously been implicated in families exhibiting retinal degeneration. Using mouse models, we investigated...
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