Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency

Acyl-CoA dehydrogenase 9 (ACAD9) is an assembly factor for mitochondrial respiratory chain Complex I (CI), and ACAD9 mutations are recognized as a frequent cause of CI deficiency. ACAD9 also retains enzyme ACAD activity for long-chain fatty acids in vitro, but the biological relevance of this functi...

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Bibliografiset tiedot
Julkaisussa:Hum Mol Genet
Päätekijät: Schiff, Manuel, Haberberger, Birgit, Xia, Chuanwu, Mohsen, Al-Walid, Goetzman, Eric S., Wang, Yudong, Uppala, Radha, Zhang, Yuxun, Karunanidhi, Anuradha, Prabhu, Dolly, Alharbi, Hana, Prochownik, Edward V., Haack, Tobias, Häberle, Johannes, Munnich, Arnold, Rötig, Agnes, Taylor, Robert W., Nicholls, Robert D., Kim, Jung-Ja, Prokisch, Holger, Vockley, Jerry
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2015
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Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4424958/
https://ncbi.nlm.nih.gov/pubmed/25721401
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv074
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