Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

doi:10.1016/j.ajhg.2017.09.020

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

American journal of human genetics - 2 Nov 2017

Nguyen Thi Tuyet Mai, Murakami Yoshiko, Sheridan Eamonn, Ehresmann Sophie, Rousseau Justine, St-Denis Anik, Chai Guoliang, Ajeawung Norbert F, Fairbrother Laura, Reimschisel Tyler, Bateman Alexandra, Berry-Kravis Elizabeth, Xia Fan, Tardif Jessica, Parry David A, Logan Clare V, Diggle Christine, Bennett Christopher P, Hattingh Louise, Rosenfeld Jill A, Perry Michael Scott, Parker Michael J, Le Deist Françoise, Zaki Maha S, Ignatius Erika, Isohanni Pirjo, Lönnqvist Tuula, Carroll Christopher J, Johnson Colin A, Gleeson Joseph G, Kinoshita Taroh, Campeau Philippe M

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acyltransferases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Atrophy

Share to Bone Diseases, Metabolic

Share to Cerebellum

Share to Developmental Disabilities

Share to Glycosylphosphatidylinositols

Share to Muscle Hypotonia

Share to Seizures

Source

Open in PubMed Open full text

Identifiers

PMID: 29100095
DOI: 10.1016/j.ajhg.2017.09.020
PMCID: PMC5673666

Genes

GPI
GPAA1
PIGK
PIGS
PIGT
PIGU

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.PMID 29100095Read ↗

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.Semantic proximity Read ↗

Functional Analysis of the GPI Transamidase Complex by Screening for Amino Acid Mutations in Each Subunit.Semantic proximity Read ↗

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.Semantic proximity Read ↗

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

Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1Semantic proximity Read ↗

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.Semantic proximity Read ↗

Molecular insights into biogenesis of glycosylphosphatidylinositol anchor proteinsSemantic proximity Read ↗

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.Semantic proximity Read ↗

A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes.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 ↗

Expanding the Genotypic and Phenotypic Spectrum of PGAP1 Deficiency: Clinical and Functional Insights from 15 PatientsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.