Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is the most common defect of mitochondrial long-chain fatty acid β-oxidation. Patients present with heterogeneous clinical phenotypes affecting heart, liver and skeletal muscle predominantly. The full pathophysiology of the disease is unclear...

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Detalles Bibliográficos
Autores principales: Seminotti, Bianca, Leipnitz, Guilhian, Karunanidhi, Anuradha, Kochersperger, Catherine, Roginskaya, Vera Y, Basu, Shrabani, Wang, Yudong, Wipf, Peter, Van Houten, Bennett, Mohsen, Al-Walid, Vockley, Jerry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400046/
https://www.ncbi.nlm.nih.gov/pubmed/30445591
http://dx.doi.org/10.1093/hmg/ddy403

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