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Keywords: Miller syndrome
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Articles

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

Open Access
JingXian Fang, Takeshi Uchiumi, Mikako Yagi, Shinya Matsumoto, Rie Amamoto, Shinya Takazaki, Haruyoshi Yamaza, Kazuaki Nonaka, Dongchon Kang
Journal: Bioscience Reports
Biosci Rep (2013) 33 (2): e00021.
https://doi.org/10.1042/BSR20120097
Published: 05 February 2013
...JingXian Fang; Takeshi Uchiumi; Mikako Yagi; Shinya Matsumoto; Rie Amamoto; Shinya Takazaki; Haruyoshi Yamaza; Kazuaki Nonaka; Dongchon Kang Some mutations of the DHODH (dihydro-orotate dehydrogenase) gene lead to postaxial acrofacial dysostosis or Miller syndrome. Only DHODH is localized...
View articletitled, Dihydro-orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction
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Articles

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

Open Access
JingXian Fang, Takeshi Uchiumi, Mikako Yagi, Shinya Matsumoto, Rie Amamoto, Toshiro Saito, Shinya Takazaki, Tomotake Kanki, Haruyoshi Yamaza, Kazuaki Nonaka, Dongchon Kang
Journal: Bioscience Reports
Biosci Rep (2012) 32 (6): 631–639.
https://doi.org/10.1042/BSR20120046
Published: 19 October 2012
...JingXian Fang; Takeshi Uchiumi; Mikako Yagi; Shinya Matsumoto; Rie Amamoto; Toshiro Saito; Shinya Takazaki; Tomotake Kanki; Haruyoshi Yamaza; Kazuaki Nonaka; Dongchon Kang Miller syndrome is a recessive inherited disorder characterized by postaxial acrofacial dysostosis. It is caused by dysfunction...
View articletitled, Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients
Open the PDF for Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients in another window