Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function

• Main Authors: Amy S. Findlay (Author), Roderick N. Carter (Author), Becky Starbuck (Author), Lisa McKie (Author), Klára Nováková (Author), Peter S. Budd (Author), Margaret A. Keighren (Author), Joseph A. Marsh (Author), Sally H. Cross (Author), Michelle M. Simon (Author), Paul K. Potter (Author), Nicholas M. Morton (Author), Ian J. Jackson (Author)
• Format: Book
• Published: The Company of Biologists, 2018-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...