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. METHODS: Patients with severe DOA (DOA plus) had peripheral neuropathy, cognitiv...

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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: Liao, Chunyan, Ashley, Neil, Diot, Alan, Morten, Karl, Phadwal, Kanchan, Williams, Andrew, Fearnley, Ian, Rosser, Lyndon, Lowndes, Jo, Fratter, Carl, Ferguson, David J.P., Vay, Laura, Quaghebeur, Gerardine, Moroni, Isabella, Bianchi, Stefania, Lamperti, Costanza, Downes, Susan M., Sitarz, Kamil S., Flannery, Padraig J., Carver, Janet, Dombi, Eszter, East, Daniel, Laura, Matilde, Reilly, Mary M., Mortiboys, Heather, Prevo, Remko, Campanella, Michelangelo, Daniels, Matthew J., Zeviani, Massimo, Yu-Wai-Man, Patrick, Simon, Anna Katharina, Votruba, Marcela, Poulton, Joanna
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5224718/
https://ncbi.nlm.nih.gov/pubmed/27974645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000003491
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