ArticleAmerican journal of human genetics2017
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
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Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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39citing papers in PubMed, 1 pooled it
5.2field-weighted citation impact, top 4% of its field
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.
- Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review.Frontiers in neurology · 2021Pooled it
- Radiation-Enhanced CD24 Membrane Trafficking via GPI Anchoring Mediates Antitumor Immune Evasion.Cancer research · 2026Article
- Molecular Insights into Fungal Glycosylphosphatidylinositol Transamidase Complex.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Biosynthesis of GPI anchored proteins, its deficiencies and treatment.Journal of human genetics · 2025Review
- Identification of immune escape-related prognostic genes and immune infiltration analysis in hepatocellular carcinoma based on bioinformatics.Biochemistry and biophysics reports · 2025Article
- A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures.Journal of human genetics · 2024Article
- The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.Brain : a journal of neurology · 2024Observational
- Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.Molecular genetics and metabolism · 2024Article
- Proteomic screens of SEL1L-HRD1 ER-associated degradation substrates reveal its role in glycosylphosphatidylinositol-anchored protein biogenesis.Nature communications · 2024Article
- Structure and Function of the Glycosylphosphatidylinositol Transamidase, a Transmembrane Complex Catalyzing GPI Anchoring of Proteins.Sub-cellular biochemistry · 2024Review
- [Glycosylphosphatidylinositol biosynthesis deficiency 15 caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Genetic analysis and prenatal diagnosis of a pedigree with developmental retardation due to paternal 8q/18q translocation.Clinical case reports · 2023Article
- Structures of liganded glycosylphosphatidylinositol transamidase illuminate GPI-AP biogenesis.Nature communications · 2023Article
- A Novel HomozygousGenes · 2023Article
- Exploring the genetic etiology of drug-resistant epilepsy: incorporation of exome sequencing into practice.Acta neurologica Belgica · 2022Article
- Ethanolamine-phosphate on the second mannose is a preferential bridge for some GPI-anchored proteins.EMBO reports · 2022Article
- Establishment of mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapy.Nature communications · 2022Article
- Lipid Dyshomeostasis and Inherited Cerebellar Ataxia.Molecular neurobiology · 2022Review
- Molecular insights into biogenesis of glycosylphosphatidylinositol anchor proteins.Nature communications · 2022Article
- Structure of human glycosylphosphatidylinositol transamidase.Nature structural & molecular biology · 2022Article
Corrections and comments
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Authors and funding
32 authors at 15 institutions in 6 countries.
Thi Tuyet Mai NguyenCentre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada.
Yoshiko MurakamiYabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, and Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan.
Eamonn SheridanFaculty of Medicine and Health University of Leeds, Leeds LS2 9JT, UK.
Sophie EhresmannCentre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada.
Justine RousseauCentre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada.
Anik St-DenisCentre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada.
Guoliang ChaiHoward Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, Department of Neuroscience, University of California, San Diego, San Diego, CA 92093, USA.
Norbert F AjeawungCentre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada.
Laura FairbrotherDepartment of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Tyler ReimschiselDepartment of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Alexandra BatemanDepartment of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Elizabeth Berry-KravisDepartments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Rush University, Chicago, IL 60612, USA.
Fan XiaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jessica TardifCentre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada.
David A ParryFaculty of Medicine and Health University of Leeds, Leeds LS2 9JT, UK.
Clare V LoganFaculty of Medicine and Health University of Leeds, Leeds LS2 9JT, UK.
Christine DiggleFaculty of Medicine and Health University of Leeds, Leeds LS2 9JT, UK.
Christopher P BennettFaculty of Medicine and Health University of Leeds, Leeds LS2 9JT, UK.
Louise HattinghDepartment of Radiology, Bradford Royal Infirmary, Duckworth Lane, Bradford BD9 6RJ, UK.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Michael Scott PerryComprehensive Epilepsy Program, Jane and John Justin Neuroscience Center, Cook Children's Medical Center, Fort Worth, TX 76104, USA.
Michael J ParkerSheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK.
Françoise Le DeistCentre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
Erika IgnatiusResearch Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland; Department of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Hospital District of Helsinki and Uusimaa, 00029 Helsinki, Finland.
Pirjo IsohanniResearch Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland; Department of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Hospital District of Helsinki and Uusimaa, 00029 Helsinki, Finland.
Tuula LönnqvistDepartment of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Hospital District of Helsinki and Uusimaa, 00029 Helsinki, Finland.
Christopher J CarrollResearch Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland; Molecular and Clinical Sciences Research Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK.
Colin A JohnsonFaculty of Medicine and Health University of Leeds, Leeds LS2 9JT, UK.
Joseph G GleesonHoward Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, Department of Neuroscience, University of California, San Diego, San Diego, CA 92093, USA.
Taroh KinoshitaYabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, and Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan.
Philippe M CampeauCentre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1J4, Canada. Electronic address: p.campeau@umontreal.ca.
Centre Hospitalier Universitaire Sainte-Justine · CAUniversity of Leeds · GBUniversity of Helsinki · FIVanderbilt University Medical Center · USBaylor College of Medicine · USOsaka University · JPBradford Royal Infirmary · GBChildren’s Institute · USCook Children's Medical Center · USHelsinki University Hospital · FIHoward Hughes Medical Institute · USNational Research Centre · EGRush University Medical Center · USSheffield Children's Hospital · GBUniversité de Montréal · CA
Funding
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MMolecular Characterization of Joubert SyndromeR01NS048453 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2004 to 2020
$6.0MMolecular Characterization of Pontocerebellar HypoplasiaR01NS098004 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI JOSEPH G GLEESON · 2016 to 2026
$4.6MMedical Research Council MR/K011154/1NHGRI NIH HHS UM1 HG008900NINDS NIH HHS R01 NS048453NINDS NIH HHS R01 NS098004Wellcome Trust
Abstract
Approximately one in every 200 mammalian proteins is anchored to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. These proteins play important roles notably in neurological development and function. To date, more than 20 genes have been implicated in the biogenesis of GPI-anchored proteins. GPAA1 (glycosylphosphatidylinositol anchor attachment 1) is an essential component of the transamidase complex along with PIGK, PIGS, PIGT, and PIGU (phosphatidylinositol-glycan biosynthesis classes K, S, T, and U, respectively). This complex orchestrates the attachment of the GPI anchor to the C terminus of precursor proteins in the endoplasmic reticulum. Here, we report bi-allelic mutations in GPAA1 in ten individuals from five families. Using whole-exome sequencing, we identified two frameshift mutations (c.981_993del [p.Gln327Hisfs
Indexed as
AcyltransferasesAdolescentAdultAllelesAtrophyBone Diseases, MetabolicCerebellumChildChild, PreschoolDevelopmental DisabilitiesEpilepsyExomeFemaleFibroblastsGlycosylphosphatidylinositolsHumansAcyltransferasesCOOH-terminal signal transamidaseGlycosylphosphatidylinositolsGPAA1 protein, humanMembrane GlycoproteinsRNA, Messengeralkaline phosphataseepilepsyglycosylphosphatidylinositolGPAA1GPIosteopeniaseizures
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