PIGO

Summary

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

Top Publications

  1. pmc Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome
    Denise Horn
    Institut für Medizinische Genetik und Humangenetik, Charite Universitatsmedizin Berlin, Berlin, Germany
    Eur J Hum Genet 22:762-7. 2014
  2. doi PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels
    Kazuyuki Nakamura
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Epilepsia 55:e13-7. 2014
  3. doi New insights into the functions of PIGF, a protein involved in the ethanolamine phosphate transfer steps of glycosylphosphatidylinositol biosynthesis
    Matthew J Stokes
    Laboratory of Immunoglycobiology, WPI Immunology Frontier Research Center, Osaka University, Osaka 565 0871, Japan
    Biochem J 463:249-56. 2014
  4. doi Phenytoin-induced gingival overgrowth management with periodontal treatment
    Bruno César de Vasconcelos Gurgel
    Department of Dentistry, UFRN Federal University of Rio Grande do Norte, Natal, RN, Brazil
    Braz Dent J 26:39-43. 2015
  5. doi Mutations in PIGL in a patient with Mabry syndrome
    Ikuma Fujiwara
    Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet A 167:777-85. 2015
  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 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
  8. 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
  9. 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
  10. 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

Scientific Experts

  • Jun Nakamura
  • Taroh Kinoshita
  • Yoshiko Murakami
  • Peter M Krawitz
  • Denise Horn
  • Peter N Robinson
  • R Arya
  • Ulrike Krüger
  • Stefan Mundlos
  • Ikuma Fujiwara
  • Bruno César de Vasconcelos Gurgel
  • Matthew J Stokes
  • Kazuyuki Nakamura
  • Yusuke Maeda
  • Lars Hansen
  • Tom Kamphans
  • Na Zhu
  • Jochen Hecht
  • S Gulati
  • Peter C Fineran
  • Carlos Roberto Batista de Morais
  • Euler Maciel Dantas
  • Antonio de Lisboa Lopes Costa
  • Osamu Sakamoto
  • Keiko Nakayama
  • Junko Kanno
  • Yoichi Matsubara
  • Ryo Funayama
  • Shigeo Kure
  • Pedro Carlos da Rocha-Neto
  • Nobuhiko Okamoto
  • Takeshi Nagashima
  • Tetsuya Niihori
  • Akiko Hakoda
  • Leão Pereira Pinto
  • Yoko Aoki
  • Dagmar Wieczorek
  • Tobias Linden
  • Rie Anzai
  • Mario Cuk
  • Ivo Baric
  • Peter Krawitz
  • Noriko Miyake
  • Stephanie Demuth
  • Danijela Petković Ramadza
  • Hirofumi Kodera
  • Lidija Paležac
  • Naomichi Matsumoto
  • Hitoshi Osaka
  • Yoshinori Tsurusaki
  • Yasu S Morita
  • Hirotomo Saitsu
  • Kay Metcalfe
  • Jens Koenig
  • Kiyomi Nishiyama
  • Mitsuko Nakashima
  • Wolfram Heinritz
  • Stefanie Schäffer
  • Dmitri Parkhomchuk
  • Yuan Mang
  • Andre Reis
  • Safia Muhammad
  • Hasan Tawamie
  • Marja Hietala
  • Verena Heinrich
  • Markus M Nothen
  • Mads Bak
  • Michael Aigner
  • Eric P Bennett
  • Shahid Mahmood Baig
  • Shoaib Ur Rehman
  • Angelika Ries
  • Rami Abou Jamra
  • Niels Tommerup
  • Rebecca Buchert
  • Peggy Sabri
  • Miles D Thompson
  • Geert R Mortier
  • Elfride De Baere
  • Tony Roscioli
  • Susan E Holder
  • Szymon Kielbasa
  • Barbara Delle Chiaie
  • M Kabra
  • J K Sahu
  • V Kalra
  • Y Hong
  • Neil R Williamson
  • Kathryn S Lilley
  • George P C Salmond

Detail Information

Publications15

  1. pmc Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome
    Denise Horn
    Institut für Medizinische Genetik und Humangenetik, Charite Universitatsmedizin Berlin, Berlin, Germany
    Eur J Hum Genet 22:762-7. 2014
    Three different genes of the glycosylphosphatidylinositol anchor synthesis pathway, PIGV, PIGO, and PGAP2, have recently been implicated in hyperphosphatasia-mental retardation syndrome (HPMRS), also known as Mabry syndrome, a rare ..
  2. doi PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels
    Kazuyuki Nakamura
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Epilepsia 55:e13-7. 2014
    ..Among them, mutations in PIGV and PIGO, which are involved in the late stages of GPI-anchor synthesis, and PGAP2, which is involved in fatty-acid GPI-..
  3. doi New insights into the functions of PIGF, a protein involved in the ethanolamine phosphate transfer steps of glycosylphosphatidylinositol biosynthesis
    Matthew J Stokes
    Laboratory of Immunoglycobiology, WPI Immunology Frontier Research Center, Osaka University, Osaka 565 0871, Japan
    Biochem J 463:249-56. 2014
    ..PIGF forms a heterodimer with either PIGG or PIGO, two enzymes that transfer an EtNP to the second or third mannoses of GPI respectively...
  4. doi Phenytoin-induced gingival overgrowth management with periodontal treatment
    Bruno César de Vasconcelos Gurgel
    Department of Dentistry, UFRN Federal University of Rio Grande do Norte, Natal, RN, Brazil
    Braz Dent J 26:39-43. 2015
    Phenytoin-induced gingival overgrowth (PIGO) is a common complication of the continuous use of medications...
  5. doi Mutations in PIGL in a patient with Mabry syndrome
    Ikuma Fujiwara
    Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet A 167:777-85. 2015
    ..Recent studies have revealed mutations in PIGV, PIGW, PIGO, PGAP2, and PGAP3 (genes that encode molecules of the glycosylphosphatidylinositol (GPI)-anchor biosynthesis ..
  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 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...
  8. 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 ..
  9. 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 ..
  10. 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, ..
  11. 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...
  12. 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...
  13. 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...
  14. 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)...
  15. 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.