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

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...

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Bibliographic Details
Main Authors: JingXian Fang, Takeshi Uchiumi, Mikako Yagi, Shinya Matsumoto, Rie Amamoto, Toshiro Saito, Shinya Takazaki, Tomotake Kanki, Haruyoshi Yamaza, Kazuaki Nonaka, Dongchon Kang
Format: Article
Language:English
Published: Portland Press, Biochemical Society 2012-10-01
Series:Bioscience Reports
Subjects:
dihydro-orotate dehydrogenase (DHODH)
Miller syndrome
missense mutation
mitochondrion
protein stability
Online Access:http://www.bioscirep.org/bsr/032/0631/bsr0320631.htm

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http://www.bioscirep.org/bsr/032/0631/bsr0320631.htm

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