Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Objective: To investigate mitophagy in 5 patients with severe dominantly inherited optic atrophy (DOA), caused by depletion of OPA1 (a protein that is essential for mitochondrial fusion), compared with healthy controls. <br/><br/> Methods: Patients with severe DOA (DOA plus) had peripher...

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Detalles Bibliográficos
Autores principales: Liao, C, Ashley, N, Diot, A, Morten, K, Phadwal, K, Williams, A, Fearnley, I, Rosser, L, Lowndes, J, Fratter, C, Ferguson, D, Vay, L, Quaghebeur, G, Moroni, I, Bianchi, S, Lamperti, C, Downes, S, Sitarz, K, Flannery, P, Carver, J, Dombi, E, East, D, Laura, M, Reilly, M, Mortiboys, H, Prevo, R, Campanella, M, Daniels, M, Zeviani, M, Yu-Wai-Man, P, Simon, A, Votruba, M, Poulton, J
Formato: Journal article
Lenguaje:English
Publicado: Wolters Kluwer Health 2016

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