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

Bioscience Reports

Volumn 32, Issue 6, 2012, Pages 631-639

  Fang, JingXian ^a,b   Uchiumi, Takeshi ^a   Yagi, Mikako ^a   Matsumoto, Shinya ^a   Amamoto, Rie ^a   Saito, Toshiro ^a   Takazaki, Shinya ^a   Kanki, Tomotake ^a   Yamaza, Haruyoshi ^b   Nonaka, Kazuaki ^b   Kang, Dongchon ^a  

^a KYUSHU UNIVERSITY   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

Author keywords

Dihydro orotate dehydrogenase (DHODH); Miller syndrome; Missense mutation; Mitochondrion; Protein stability

Indexed keywords

COMPLEMENTARY DNA; CYTOCHROME C OXIDASE; DIHYDROOROTATE DEHYDROGENASE; PYRIMIDINE; SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE; UBIQUINONE;

ALPHA HELIX; ARTICLE; BINDING SITE; CANCER CELL CULTURE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME LOCALIZATION; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; MILLER FINEMAN SMITH SYNDROME; MISSENSE MUTATION; MITOCHONDRIAL MEMBRANE; NAGER ACROFACIAL DYSOSTOSIS; PHENOTYPE; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN INSTABILITY; PROTEIN PROCESSING; PROTEIN STABILITY; RESPIRATORY CHAIN;

ABNORMALITIES, MULTIPLE; ELECTRON TRANSPORT COMPLEX III; HELA CELLS; HUMANS; LIMB DEFORMITIES, CONGENITAL; MANDIBULOFACIAL DYSOSTOSIS; MICROGNATHISM; MITOCHONDRIA; MUTATION, MISSENSE; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PROTEIN STABILITY; SUCCINATE DEHYDROGENASE; UBIQUINONE;

EID: 84872409227     PISSN: 01448463     EISSN: 15734935     Source Type: Journal    
DOI: 10.1042/BSR20120046     Document Type: Article

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