Gene Symbol: Impdh1
Description: inosine monophosphate dehydrogenase 1
Alias: IMPD 1, IMPDH 1, inosine-5'-monophosphate dehydrogenase 1, IMP (inosine 5'-monophosphate) dehydrogenase 1, IMP (inosine monophosphate) dehydrogenase 1, IMP dehydrogenase 1, inosine 5'-phosphate dehydrogenase 1
- Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosaSara J Bowne
Human Genetics Center, School of Public Health, The University of Texas HSC, Houston, TX 77030, USA
Hum Mol Genet 11:559-68. 2002..photoreceptors) demonstrated a 6-fold reduction in one candidate, inosine monophosphate dehydrogenase 1 (IMPDH1; EC 126.96.36.199)...
- Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) miceAvril Kennan
The Ocular Genetics Unit, Department of Genetics, Trinity College, Dublin 2, Ireland
Hum Mol Genet 11:547-57. 2002..The human homologue of one of these genes, encoding inosine monophosphate dehydrogenase type 1 (IMPDH1), maps to the region of 7q to which an adRP gene (RP10) had previously been localized...
- On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosaAileen Aherne
The Ocular Genetics Unit, Department of Genetics, Trinity College Dublin, Ireland
Hum Mol Genet 13:641-50. 2004..Mutations within the gene encoding inosine monophosphate dehydrogenase 1 (IMPDH1), the widely expressed rate-limiting enzyme of the de novo pathway of guanine nucleotide biosynthesis, have ..
- Synchronized changes in transcript levels of genes activating cold exposure-induced thermogenesis in brown adipose tissue of experimental animalsMasahiro Watanabe
Institute for Genome Research, University of Tokushima, Kuramotocho 3, Tokushima 770 8503, Japan
Biochim Biophys Acta 1777:104-12. 2008..On the contrary, several genes such as regulator of G-protein signaling 2 and IMP dehydrogenase 1 were down-regulated in the BAT of cold-exposed rats...
- Characterisation of inosine monophosphate dehydrogenase expression during retinal development: differences between variants and isoformsJennifer H Gunter
Diamantina Institute for Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, University of Queensland, Brisbane, QLD 4102, Brisbane, Australia
Int J Biochem Cell Biol 40:1716-28. 2008....
- Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10)Lawrence C S Tam
The Ocular Genetics Unit, Department of Genetics, Trinity College Dublin, Dublin 2, Ireland
Hum Mol Genet 17:2084-100. 2008Mutations within the inosine 5'-monophosphate dehydrogenase 1 (IMPDH1) gene cause the RP10 form of autosomal dominant retinitis pigmentosa (adRP), an early-onset retinopathy resulting in extensive visual handicap owing to progressive ..