Genomes and Genes
Gene Symbol: PIGO
Description: phosphatidylinositol glycan anchor biosynthesis class O
Alias: HPMRS2, GPI ethanolamine phosphate transferase 3, phosphatidylinositol-glycan biosynthesis class O protein
- Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndromeDenise Horn
Institut für Medizinische Genetik und Humangenetik, Charite Universitatsmedizin Berlin, Berlin, Germany
Eur J Hum Genet 22:762-7. 2014Three 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 ..
- PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levelsKazuyuki 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-..
- New insights into the functions of PIGF, a protein involved in the ethanolamine phosphate transfer steps of glycosylphosphatidylinositol biosynthesisMatthew 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...
- Phenytoin-induced gingival overgrowth management with periodontal treatmentBruno César de Vasconcelos Gurgel
Department of Dentistry, UFRN Federal University of Rio Grande do Norte, Natal, RN, Brazil
Braz Dent J 26:39-43. 2015Phenytoin-induced gingival overgrowth (PIGO) is a common complication of the continuous use of medications...
- Mutations in PIGL in a patient with Mabry syndromeIkuma 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 ..
- Phenytoin-induced gingival overgrowthR 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...
- Detection of PIGO-deficient cells using proaerolysin: a valuable tool to investigate mechanisms of mutagenesis in the DT40 cell systemJun 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...
- Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardationPeter 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 ..
- Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disabilityLars 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 ..
- PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndromePeter 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, ..
- Filtering for compound heterozygous sequence variants in non-consanguineous pedigreesTom 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...
- Requirement of PIG-F and PIG-O for transferring phosphoethanolamine to the third mannose in glycosylphosphatidylinositolY 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...
- Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesisT 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...
- Virulence and prodigiosin antibiotic biosynthesis in Serratia are regulated pleiotropically by the GGDEF/EAL domain protein, PigXPeter 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)...
- Folic acid supplementation prevents phenytoin-induced gingival overgrowth in childrenR 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.