Dihydro-orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction

Some mutations of the DHODH (dihydro-orotate dehydrogenase) gene lead to postaxial acrofacial dysostosis or Miller syndrome. Only DHODH is localized at mitochondria among enzymes of the de novo pyrimidine biosynthesis pathway. Since the pyrimidine biosynthesis pathway is coupled to the mitochondrial...

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Detalles Bibliográficos
Autores principales: Fang, JingXian, Uchiumi, Takeshi, Yagi, Mikako, Matsumoto, Shinya, Amamoto, Rie, Takazaki, Shinya, Yamaza, Haruyoshi, Nonaka, Kazuaki, Kang, Dongchon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2013
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564035/
https://www.ncbi.nlm.nih.gov/pubmed/23216091
http://dx.doi.org/10.1042/BSR20120097

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564035/
https://www.ncbi.nlm.nih.gov/pubmed/23216091
http://dx.doi.org/10.1042/BSR20120097

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