Associated Papers
Expanding the Phenotype of STAMBP-Related Microcephaly-Capillary Malformation Syndrome.
Gowda VK et al.
American Journal of Medical Genetics. Part A, 2026
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes
Novel compound heterozygous mutation in STAMBP causes a neurodevelopmental disorder by disrupting cortical proliferation.
Hu M et al.
Frontiers in Neuroscience, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype
Early‑onset epilepsy and microcephaly‑capillary malformation syndrome caused by a novel STAMBP mutation in a Chinese boy.
Wu F et al.
Molecular Medicine Reports, 2019
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome.
Hori I et al.
Journal of Human Genetics, 2018
Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.
Naseer MI et al.
American Journal of Medical Genetics. Part A, 2016
Insights into the mechanism of deubiquitination by JAMM deubiquitinases from cocrystal structures of the enzyme with the substrate and product.
Shrestha RK et al.
Biochemistry, 2014
Mechanism of recruitment and activation of the endosome-associated deubiquitinase AMSH.
Davies CW et al.
Biochemistry, 2013
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
McDonell LM et al.
Nature Genetics, 2013
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