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Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

25 Jul 2019

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Share to Glycosylation and Glycoproteins Research
Share to Peptidase Inhibition and Analysis
Share to Signaling Pathways in Disease

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31353022
DOI: 10.1016/j.ajhg.2019.06.009

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Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain AnomaliesPMID 31353022Read ↗

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic EncephalopathySemantic proximity Read ↗

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

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

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.Semantic proximity Read ↗

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

A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype-phenotype correlation.Semantic proximity Read ↗

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

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.Semantic proximity Read ↗

In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder.Semantic proximity Read ↗

PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.Semantic proximity Read ↗

A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.Semantic proximity Read ↗

A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.Semantic proximity Read ↗

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