ArticlePloS one2017
A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review.Frontiers in neurology · 2021Pooled it
- Disease-modifying treatments in paroxysmal nocturnal hemoglobinuria: a systematic review of economic evaluations.Cost effectiveness and resource allocation : C/E · 2025Review
- Elucidating the pathogenic mechanism of a pedigree with complex rearrangements on chromosome 4 using optical genome mapping technology: a study on the genetics and functional pathways in a child with developmental delay.Molecular cytogenetics · 2025Article
- [Glycosylphosphatidylinositol biosynthesis deficiency 15 caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.Orphanet journal of rare diseases · 2020Review
- CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model.Human molecular genetics · 2020Article
- Progress in the molecular mechanisms of genetic epilepsies using patient-induced pluripotent stem cells.Epilepsia open · 2018Review
- CDG Therapies: From Bench to Bedside.International journal of molecular sciences · 2018Review
- Characterization of the Genomic Landscape in HPV-positive Cervical and Head and Neck Squamous Cell Carcinomas by Whole Genome Next Generation Sequencing.Cancer genomics & proteomicsArticle
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in genes involved in glycosylphosphatidylinositol (GPI) anchor biosynthesis underlie a group of congenital syndromes characterized by severe neurodevelopmental defects. GPI anchored proteins have diverse roles in cell adhesion, signaling, metabolism and complement regulation. Over 30 enzymes are required for GPI anchor biosynthesis and PIGA is involved in the first step of this process. A hypomorphic mutation in the X-linked PIGA gene (c.1234C>T) causes multiple congenital anomalies hypotonia seizure syndrome 2 (MCAHS2), indicating that even partial reduction of GPI anchored proteins dramatically impairs central nervous system development, but the mechanism is unclear. Here, we established a human induced pluripotent stem cell (hiPSC) model containing the PIGAc.1234C>T mutation to study the effects of a hypomorphic allele of PIGA on neuronal development. Neuronal differentiation from neural progenitor cells generated by EB formation in PIGAc.1234C>T is significantly impaired with decreased proliferation, aberrant synapse formation and abnormal membrane depolarization. The results provide direct evidence for a critical role of GPI anchor proteins in early neurodevelopment. Furthermore, neural progenitors derived from PIGAc.1234C>T hiPSCs demonstrate increased susceptibility to complement-mediated cytotoxicity, suggesting that defective complement regulation may contribute to neurodevelopmental disorders.
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Registered trials
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