Article
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Human molecular genetics - 1 Oct 2018
Barca Emanuele, Ganetzky Rebecca D, Potluri Prasanth, Juanola-Falgarona Marti, Gai Xiaowu, Li Dong, Jalas Chaim, Hirsch Yoel, Emmanuele Valentina, Tadesse Saba, Ziosi Marcello, Akman Hasan O, Chung Wendy K, Tanji Kurenai, McCormick Elizabeth M, Place Emily, Consugar Mark, Pierce Eric A, Hakonarson Hakon, Wallace Douglas C, Hirano Michio, Falk Marni J
Abstract excerpt
Leigh syndrome is a frequent, heterogeneous pediatric presentation of mitochondrial oxidative phosphorylation (OXPHOS) disease, manifesting with psychomotor retardation and necrotizing lesions in brain deep gray matter. OXPHOS occurs at the inner mitochondrial membrane through the integrated activity of five protein complexes, of which complex V (CV) functions in a dimeric form to directly generate adenosine...
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