DHODH Antibody

1. This case with grossly raised plasma DHO represents the first biochemical confirmation of functional DHODH deficiency. DHO was also easily detectable in dried plasma and blood spots. PMID: 27370710
2. This is the first study to report on conformational changes of the HsDHODH N-terminal microdomain through a combination of CD and DEER spectroscopic techniques PMID: 26086954
3. Considering that pyrimidine deficiency alone does not induce craniofacial dysmorphism, the DHODH mutations may contribute to the Miller syndrome in part through somehow altered mitochondrial function. PMID: 23216091
4. Carriage of a six-marker DHODH haplotype was associated with a reduced treatment response (p = 0.008). PMID: 22966891
5. The G202A and R346W mutation causes deficient protein stability, and the R135C mutation impairs the substrate-induced enzymatic activity, suggesting that impairment of DHODH activity is linked to the Miller syndrome phenotype. PMID: 22967083
6. biallelic DHODH mutations in four unrelated families with typical clinical features of Miller syndrome. PMID: 22692683
7. DHODH inhibition led to a marked decrease in melanoma growth both in vitro and in xenograft studies PMID: 21430780
8. DHODH recessively causes Miller syndrome. PMID: 20220176
9. required for N-(4-hydroxyphenyl)retinamide-induced reactive oxygen species production and apoptosis of cancer epithelial cells PMID: 20399851
10. Data confirmed the presence of DHODH mutations in families with Miller syndrome. PMID: 19915526
11. biophysical analysis of hydrogen bonding pathways in human dihydroorotate dehydrogenase PMID: 17004840
12. Data provide new insights into the dynamic features of the DHODH reaction and suggest new approaches to the design of inhibitors against DHODH. PMID: 18672895
13. DHODH polymorphism may be associated with incireased remiaaion in leflunomide treatment in rheumatoid arthritis patients. PMID: 19207032
14. we report a new association of DHODH A40C polymorphism with leflunomide toxicity in patients with Rheumatoid Arthritis. PMID: 19605743

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HGNC: 2867

OMIM: 126064

KEGG: hsa:1723

STRING: 9606.ENSP00000219240

UniGene: Hs.654427