Article

Expanding the Genotypic and Phenotypic Spectrum of PGAP1 Deficiency: Clinical and Functional Insights from 15 Patients

2026-01-21

Abstract excerpt

<title>Abstract</title> <p>Glycosylphosphatidylinositol-anchored proteins (GPI-APs) play essential roles in neuronal development, synaptic organisation, and signal transduction. Defects in GPI-anchor biosynthesis and remodelling cause rare multisystem neurodevelopmental disorders, among which post-GPI attachment to proteins 1 (PGAP1) deficiency is particularly uncommon. PGAP1 encodes an inositol deacylase that re...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 57a8f01e-5699-5bcd-b2db-93a14b2d3549
DOI: 10.21203/rs.3.rs-8463184/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Expanding the Genotypic and Phenotypic Spectrum of PGAP1 Deficiency: Clinical and Functional Insights from 15 PatientsDOI 10.21203/rs.3.rs-8463184/v1Read

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.Semantic proximity Read

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.Semantic proximity Read

Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.Semantic proximity Read

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.Semantic proximity Read

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.Semantic proximity Read

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.Semantic proximity Read

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.Semantic proximity Read

Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review.Semantic proximity Read

Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.Semantic proximity Read

Cerebral visual impairment and intellectual disability caused by PGAP1 variants.Semantic proximity Read

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.Semantic proximity Read