2 documents found, page 1 of 1
MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile
Jacinto, S; Guerreiro, P; de Oliveira, RM; Cunha-Oliveira, T; Santos, MJ; Grazina, M; Rego, AC; Outeiro, TFMutations in the MPV17 gene are associated with hepatocerebral form of mitochondrial depletion syndrome. The mechanisms through which MPV17 mutations cause respiratory chain dysfunction and mtDNA depletion is still unclear. The MPV17 gene encodes an inner membrane mitochondrial protein that was recently described to function as a non-selective channel. Although its exact function is unknown, it is thought to be...
MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile
Jacinto, S; Guerreiro, P; Machado de Oliveira, R; Cunha-Oliveira, T; Santos, MJ; Grazina, M; Rego, AC; Outeiro, TFMutations in the MPV17 gene are associated with hepatocerebral form of mitochondrial depletion syndrome. The mechanisms through which MPV17 mutations cause respiratory chain dysfunction and mtDNA depletion is still unclear. The MPV17 gene encodes an inner membrane mitochondrial protein that was recently described to function as a non-selective channel. Although its exact function is unknown, it is thought to be...