PIGO

Summary

Gene Symbol: PIGO
Description: phosphatidylinositol glycan anchor biosynthesis, class O
Alias: HPMRS2, RP11-182N22.4, GPI ethanolamine phosphate transferase 3, phosphatidylinositol-glycan biosynthesis class O protein
Species: human

Top Publications

  1. pmc Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees
    Tom Kamphans
    Smart Algos, Berlin, Germany
    PLoS ONE 8:e70151. 2013
  2. pmc PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome
    Peter M Krawitz
    Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin, 13353 Berlin, Germany
    Am J Hum Genet 92:584-9. 2013
  3. pmc Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability
    Lars Hansen
    Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, University of Copenhagen, Blegdamsvej 3b, DK 2200 Copenhagen N, Denmark
    Am J Hum Genet 92:575-83. 2013
  4. pmc Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation
    Peter M Krawitz
    Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin, Berlin, Germany
    Am J Hum Genet 91:146-51. 2012
  5. pmc Detection of PIGO-deficient cells using proaerolysin: a valuable tool to investigate mechanisms of mutagenesis in the DT40 cell system
    Jun Nakamura
    Department of Environmental Sciences and Engineering, University of North Carolina, Chapel Hill, North Carolina, United States of America
    PLoS ONE 7:e33563. 2012
  6. doi Phenytoin-induced gingival overgrowth
    R Arya
    Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Acta Neurol Scand 125:149-55. 2012
  7. pmc Folic acid supplementation prevents phenytoin-induced gingival overgrowth in children
    R Arya
    Division of Pediatric Neurology, AIIMS, Ansari Nagar, New Delhi 110 029, India
    Neurology 76:1338-43. 2011
  8. pmc Virulence and prodigiosin antibiotic biosynthesis in Serratia are regulated pleiotropically by the GGDEF/EAL domain protein, PigX
    Peter C Fineran
    Department of Biochemistry, Tennis Court Road, University of Cambridge, Cambridge CB2 1QW, United Kingdom
    J Bacteriol 189:7653-62. 2007
  9. ncbi Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis
    T Kinoshita
    Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, 3 1 Yamada oka, Suita, 565 0871, Osaka, Japan
    Curr Opin Chem Biol 4:632-8. 2000
  10. ncbi Requirement of PIG-F and PIG-O for transferring phosphoethanolamine to the third mannose in glycosylphosphatidylinositol
    Y Hong
    Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, 3 1 Yamada oka, Suita, Osaka 565 0871, Japan
    J Biol Chem 275:20911-9. 2000

Scientific Experts

  • Jun Nakamura
  • Taroh Kinoshita
  • Peter M Krawitz
  • R Arya
  • Yoshiko Murakami
  • Peter N Robinson
  • Stefan Mundlos
  • Tom Kamphans
  • Na Zhu
  • Lars Hansen
  • Denise Horn
  • Jochen Hecht
  • Ulrike Krüger
  • S Gulati
  • Peter C Fineran
  • Yuan Mang
  • Rami Abou Jamra
  • Shahid Mahmood Baig
  • Peggy Sabri
  • Safia Muhammad
  • Rebecca Buchert
  • Dmitri Parkhomchuk
  • Michael Aigner
  • Marja Hietala
  • Hasan Tawamie
  • Mads Bak
  • Stefanie Schäffer
  • Markus M Nothen
  • Shoaib Ur Rehman
  • Niels Tommerup
  • Yusuke Maeda
  • Andre Reis
  • Angelika Ries
  • Eric P Bennett
  • Verena Heinrich
  • Tony Roscioli
  • Miles D Thompson
  • Barbara Delle Chiaie
  • Elfride De Baere
  • Susan E Holder
  • Szymon Kielbasa
  • Geert R Mortier
  • J K Sahu
  • V Kalra
  • M Kabra
  • Y Hong
  • Kathryn S Lilley
  • George P C Salmond
  • Neil R Williamson
  • Y Maeda
  • K Ohishi
  • R Watanabe
  • N Inoue

Detail Information

Publications10

  1. pmc Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees
    Tom Kamphans
    Smart Algos, Berlin, Germany
    PLoS ONE 8:e70151. 2013
    ..of four family members, two sisters affected by Mabry syndrome and their healthy parents, the disease-causing gene PIGO, which harbors the pathogenic compound heterozygous variants, could be readily identified...
  2. pmc PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome
    Peter M Krawitz
    Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin, 13353 Berlin, Germany
    Am J Hum Genet 92:584-9. 2013
    ..To date, mutations have been identified in six genes (PIGA, PIGL, PIGM, PIGN, PIGO, and PIGV) encoding proteins in the GPI-anchor-synthesis pathway in individuals with severe neurological features, ..
  3. pmc Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability
    Lars Hansen
    Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, University of Copenhagen, Blegdamsvej 3b, DK 2200 Copenhagen N, Denmark
    Am J Hum Genet 92:575-83. 2013
    ..Germline mutations in six genes (PIGA, PIGL, PIGM, PIGV, PIGN, and PIGO) in the ER-located part of the GPI-anchor-biosynthesis pathway have been reported, and all are associated with ..
  4. pmc Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation
    Peter M Krawitz
    Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin, Berlin, Germany
    Am J Hum Genet 91:146-51. 2012
    ..By exome sequencing, we detected compound-heterozygous mutations in PIGO, a gene coding for a membrane protein of the same molecular pathway, in two siblings with HPMRS, and we then found ..
  5. pmc Detection of PIGO-deficient cells using proaerolysin: a valuable tool to investigate mechanisms of mutagenesis in the DT40 cell system
    Jun Nakamura
    Department of Environmental Sciences and Engineering, University of North Carolina, Chapel Hill, North Carolina, United States of America
    PLoS ONE 7:e33563. 2012
    ..This novel assay for DT40 cells provides a valuable tool to investigate the mode of action of mutations caused by reactive agents using a series of isogenic mutant DT40 cells...
  6. doi Phenytoin-induced gingival overgrowth
    R Arya
    Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Acta Neurol Scand 125:149-55. 2012
    ..Poor periodontal hygiene is an important risk factor for severity of Phenytoin-induced gingival overgrowth (PIGO), which is a time-dependent process...
  7. pmc Folic acid supplementation prevents phenytoin-induced gingival overgrowth in children
    R Arya
    Division of Pediatric Neurology, AIIMS, Ansari Nagar, New Delhi 110 029, India
    Neurology 76:1338-43. 2011
    ..This study aimed to evaluate the effect of oral folic acid supplementation (0.5 mg/day) for the prevention of PHT-induced gingival overgrowth (PIGO) in children with epilepsy aged 6-15 years on PHT monotherapy for 6 months.
  8. pmc Virulence and prodigiosin antibiotic biosynthesis in Serratia are regulated pleiotropically by the GGDEF/EAL domain protein, PigX
    Peter C Fineran
    Department of Biochemistry, Tennis Court Road, University of Cambridge, Cambridge CB2 1QW, United Kingdom
    J Bacteriol 189:7653-62. 2007
    ..controlled secondary metabolism by repressing the transcription of the target prodigiosin biosynthetic operon (pigA-pigO)...
  9. ncbi Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis
    T Kinoshita
    Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, 3 1 Yamada oka, Suita, 565 0871, Osaka, Japan
    Curr Opin Chem Biol 4:632-8. 2000
    ..These studies have revealed the common and also different characteristics of glycosylphosphatidyl-inositol biosynthesis enzymes in different organisms, leading to the development of species-specific inhibitors of the pathway...
  10. ncbi Requirement of PIG-F and PIG-O for transferring phosphoethanolamine to the third mannose in glycosylphosphatidylinositol
    Y Hong
    Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, 3 1 Yamada oka, Suita, Osaka 565 0871, Japan
    J Biol Chem 275:20911-9. 2000
    ..Therefore, mammalian cells have redundant activities in transferring phosphoethanolamine to the third mannose, both of which require PIG-F...