ReviewProceedings of the Japan Academy. Series B, Physical and biological sciences2014
Biosynthesis and deficiencies of glycosylphosphatidylinositol.
Review in Proceedings of the Japan Academy. Series B, Physical and biological sciences, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers.
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Who cites it
78 citing papers in PubMed, 133 citations in OpenAlex.
- Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.Molecular genetics & genomic medicine · 2026Review
- Gene replacement therapy for Piga GPI-anchor deficiency in the developing nervous system.bioRxiv : the preprint server for biology · 2025Article
- Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool.Frontiers in genetics · 2025Article
- Phospholipid biosynthesis regulation for improving pigment production byApplied and environmental microbiology · 2024Article
- Assessment of the In Vitro Phosphatidylinositol Glycan Class A (PIG-A) Gene Mutation Assay Using Human TK6 and Mouse Hepa1c1c7 Cell Lines.Journal of xenobiotics · 2024Article
- PIGW-related glycosylphosphatidylinositol deficiency: A case report and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Review
- Regulation mechanism of lipids for extracellular yellow pigments production by Monascus purpureus BWY-5.Applied microbiology and biotechnology · 2023Article
- Asfotase alfa improved skeletal mineralization and fracture healing in a child with MCAHS.Bone · 2023Article
- GPI anchors: Regulated as needed.The Journal of cell biology · 2023Article
- The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review.Molecular biology reports · 2022Review
- PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.Medicina (Kaunas, Lithuania) · 2022Article
- A Novel PGAP3 Gene Mutation-Related Megalocornea Can Be Misdiagnosed as Primary Congenital Glaucoma.Cureus · 2022Article
- Establishment of mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapy.Nature communications · 2022Article
- Distinct Epileptogenic Mechanisms Associated with Seizures in Wolf-Hirschhorn Syndrome.Molecular neurobiology · 2022Article
- Strategies to induce natural killer cell tolerance in xenotransplantation.Frontiers in immunology · 2022Review
- Phosphatidylinositol glycan anchor biosynthesis, class C is a prognostic biomarker and correlates with immune infiltrates in hepatocellular carcinoma.Frontiers in genetics · 2022Article
- Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants inNeurology. Genetics · 2021Article
- Rescue of Glycosylphosphatidylinositol-Anchored Protein Biosynthesis Using Synthetic Glycosylphosphatidylinositol Oligosaccharides.ACS chemical biology · 2021Article
- Congenital Metabolic Bone Disorders as a Cause of Bone Fragility.International journal of molecular sciences · 2021Review
- Limb-clasping, cognitive deficit and increased vulnerability to kainic acid-induced seizures in neuronal glycosylphosphatidylinositol deficiency mouse models.Human molecular genetics · 2021Article
18 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
At least 150 different human proteins are anchored to the outer leaflet of the plasma membrane via glycosylphosphatidylinositol (GPI). GPI preassembled in the endoplasmic reticulum is attached to the protein's carboxyl-terminus as a post-translational modification by GPI transamidase. Twenty-two PIG (for Phosphatidyl Inositol Glycan) genes are involved in the biosynthesis and protein-attachment of GPI. After attachment to proteins, both lipid and glycan moieties of GPI are structurally remodeled in the endoplasmic reticulum and Golgi apparatus. Four PGAP (for Post GPI Attachment to Proteins) genes are involved in the remodeling of GPI. GPI-anchor deficiencies caused by somatic and germline mutations in the PIG and PGAP genes have been found and characterized. The characteristics of the 26 PIG and PGAP genes and the GPI deficiencies caused by mutations in these genes are reviewed.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.