Associated Papers
Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect.
Küçükçongar Yavaş A et al.
Molecular Syndromology, 2025
Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.
Gibson LM et al.
International Journal of Molecular Sciences, 2025
40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S2.xlsx › Colorectal_CHASM_p-values
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides
A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review.
Pan Y et al.
Frontiers in Pediatrics, 2024
Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid.
Messina M et al.
Jimd Reports, 2023
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T et al.
Orphanet Journal of Rare Diseases, 2020
32466763 (PubMed )
Supplement: 13023_2020_1401_MOESM1_ESM.xlsx › Sheet1
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.
Naseer MI et al.
Journal of the Neurological Sciences, 2016
Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome.
Cole DE et al.
Sub-cellular Biochemistry, 2015
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
Murakami Y et al.
Plos Genetics, 2014
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
Krawitz PM et al.
American Journal of Human Genetics, 2013
Select a paper to view details