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Bioscience Reports, ISSN 0144-8463, 12/2012, Volume 32, Issue 6, pp. 631 - 639
Miller syndrome is a recessive inherited disorder characterized by postaxial acrofacial dysostosis. It is caused by dysfunction of the DHODH (dihydroorotate... 
Mitochondrion | Miller syndrome | Protein stability | Dihydro-orotate dehydrogenase (DHODH) | Missense mutation | MITOCHONDRIAL-DNA MUTATIONS | METHOTREXATE | protein stability | missense mutation | mitochondrion | CELL BIOLOGY | SYNTHASE | GENE | BIOSYNTHESIS | DISEASE | dihydro-orotate dehydrogenase (DHODH) | NEURAL CREST | INHIBITOR | LEFLUNOMIDE | Abnormalities, Multiple - metabolism | Limb Deformities, Congenital - enzymology | Limb Deformities, Congenital - genetics | Mitochondria - enzymology | Electron Transport Complex III - metabolism | Humans | Micrognathism - genetics | Limb Deformities, Congenital - metabolism | Micrognathism - enzymology | Ubiquinone - metabolism | Mitochondria - metabolism | Mutation, Missense | Oxidoreductases Acting on CH-CH Group Donors - metabolism | Micrognathism - metabolism | Mandibulofacial Dysostosis - genetics | Oxidoreductases Acting on CH-CH Group Donors - analysis | Mandibulofacial Dysostosis - enzymology | Abnormalities, Multiple - enzymology | Oxidoreductases Acting on CH-CH Group Donors - genetics | Succinate Dehydrogenase - metabolism | HeLa Cells | Mandibulofacial Dysostosis - metabolism | Protein Stability | Abnormalities, Multiple - genetics | anti-HA, anti-haemagglutinin | DCPIP, dichlorophenolindophenol | LFN, leflunomide | UMPS, UMP synthase | CHX, cycloheximide | DHODH-HA, DHODH with a C-terminal HA tag | FBS, fetal bovine serum | Original Paper | DHFR, dihydrofolate reductase | DHO, dihydroorotate | DOX, doxycycline | DMEM, Dulbecco’s modified Eagle’s medium | OXPHOS, oxidative phosphorylation | DHODH, dihydro-orotate dehydrogenase | TFAM, mitochondrial transcription factor A
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