Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients

Miller syndrome is a recessive inherited disorder characterized by postaxial acrofacial dysostosis. It is caused by dysfunction of the DHODH (dihydroorotate dehydrogenase) gene, which encodes a key enzyme in the pyrimidine de novo biosynthesis pathway and is localized at mitochondria intermembrane s...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Fang, JingXian, Uchiumi, Takeshi, Yagi, Mikako, Matsumoto, Shinya, Amamoto, Rie, Saito, Toshiro, Takazaki, Shinya, Kanki, Tomotake, Yamaza, Haruyoshi, Nonaka, Kazuaki, Kang, Dongchon
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Portland Press Ltd. 2012
Pynciau:
Original Paper
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3497730/
https://ncbi.nlm.nih.gov/pubmed/22967083
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20120046
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