Associated Papers
Houge-Janssens syndrome.
Houge GD et al.
European Journal of Human Genetics : Ejhg, 2025
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 2024
Thirteen New Patients of PPP2R5D Gene Mutation and the Fine Profile of Genotype-Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype.
Jiang Y et al.
Children (basel, Switzerland), 2024
The role of serine/threonine phosphatases in human development: Evidence from congenital disorders.
Vaneynde P et al.
Frontiers in Cell and Developmental Biology, 2022
Protein phosphatase 2A - structure, function and role in neurodevelopmental disorders.
Sandal P et al.
Journal of Cell Science, 2021
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Lenaerts L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype.
Yan L et al.
Biomed Research International, 2021
PPP2R5D-Related Intellectual Disability and Neurodevelopmental Delay: A Review of the Current Understanding of the Genetics and Biochemical Basis of the Disorder.
Biswas D et al.
International Journal of Molecular Sciences, 2020
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
Houge G et al.
The Journal of Clinical Investigation, 2015
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
O'Roak BJ et al.
Nature Communications, 2014
25418537 (PubMed )
Supplement: NIHMS636245-supplement-2.xlsx › Sheet_1
A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth.
Papke CM et al.
The Journal of Biological Chemistry, 0
33482199 (PubMed )
Supplement: mmc1.pdf
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