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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Publicat a:Hum Mol Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2019
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General Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6400046/
https://ncbi.nlm.nih.gov/pubmed/30445591
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy403
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