Impdh1

Summary

Gene Symbol: Impdh1
Description: IMP (inosine 5'-monophosphate) dehydrogenase 1
Alias: IMPD 1, IMPDH 1, IMP (inosine monophosphate) dehydrogenase 1, IMP dehydrogenase 1, inosine 5'-phosphate dehydrogenase 1, inosine monophosphate dehydrogenase 1, inosine-5'-monophosphate dehydrogenase 1
Species: rat

Top Publications

  1. pmc Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa
    Sara 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
  2. ncbi 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(-/-) mice
    Avril Kennan
    The Ocular Genetics Unit, Department of Genetics, Trinity College, Dublin 2, Ireland
    Hum Mol Genet 11:547-57. 2002
  3. ncbi On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa
    Aileen Aherne
    The Ocular Genetics Unit, Department of Genetics, Trinity College Dublin, Ireland
    Hum Mol Genet 13:641-50. 2004
  4. ncbi Synchronized changes in transcript levels of genes activating cold exposure-induced thermogenesis in brown adipose tissue of experimental animals
    Masahiro Watanabe
    Institute for Genome Research, University of Tokushima, Kuramotocho 3, Tokushima 770 8503, Japan
    Biochim Biophys Acta 1777:104-12. 2008
  5. doi Characterisation of inosine monophosphate dehydrogenase expression during retinal development: differences between variants and isoforms
    Jennifer 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
  6. doi 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. 2008

Scientific Experts

  • Naomi Chadderton
  • Aileen Aherne
  • Avril Kennan
  • Lawrence C S Tam
  • Jennifer H Gunter
  • Masahiro Watanabe
  • Paul F Kenna
  • Arpad Palfi
  • G Jane Farrar
  • Pete Humphries
  • Alex McKee
  • Carmen Ayuso
  • Sara J Bowne
  • Masatoshi Kataoka
  • Edith M Gardiner
  • Alison Reynolds
  • Toshiaki Tamaki
  • Yoshinobu Baba
  • Kazuaki Kajimoto
  • Nadia Lengefeld
  • Matthew Campbell
  • Alun Jones
  • Leah Worton
  • Naoshi Yamazaki
  • Sarah J Kruger
  • Nigel L Barnett
  • Yasuo Shinohara
  • Naoto Okada
  • Rei Kakuhata
  • Anna Sophia Kiang
  • Jonathan P Whitehead
  • Marius Ader
  • Marian M Humphries
  • Elaine C Thomas
  • Takenori Yamamoto
  • Susan H Blanton
  • Dianna Hughbanks-Wheaton
  • Marian Humphries
  • John R Heckenlively
  • Seth Blackshaw
  • Constance L Cepko
  • Torben Orntoft
  • Stephen P Daiger
  • David A C Simpson
  • Karin Demtroder
  • Lori S Sullivan
  • Alan Stitt
  • David G Birch

Detail Information

Publications6

  1. pmc Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa
    Sara 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
    ..mice (with poorly differentiated photoreceptors) demonstrated a 6-fold reduction in one candidate, inosine monophosphate dehydrogenase 1 (IMPDH1; EC 1.1.1.205)...
  2. ncbi 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(-/-) mice
    Avril 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...
  3. ncbi On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa
    Aileen 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 ..
  4. ncbi Synchronized changes in transcript levels of genes activating cold exposure-induced thermogenesis in brown adipose tissue of experimental animals
    Masahiro 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...
  5. doi Characterisation of inosine monophosphate dehydrogenase expression during retinal development: differences between variants and isoforms
    Jennifer 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
    ....
  6. doi 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. 2008
    Mutations 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 ..