Associated Papers
Discovery and mechanism of K63-linkage-directed deubiquitinase activity in USP53.
Wendrich K et al.
Nature Chemical Biology, 2025
39587316 (PubMed )
Supplement: 41589_2024_1777_MOESM1_ESM.pdf
The First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with Novel USP53 Splicing Variants by Next Generation Sequencing.
Ahn S et al.
Yonsei Medical Journal, 2023
Genome Sequencing of Consanguineous Family Implicates Ubiquitin-Specific Protease 53 (USP53) Variant in Psychosis/Schizophrenia: Wild-Type Expression in Murine Hippocampal CA 1-3 and Granular Dentate with AMPA Synapse Interactions.
Kanwal A et al.
Genes, 2023
Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature.
Gezdirici A et al.
Molecular Syndromology, 2023
Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.
Koh J et al.
Blood Advances, 2021
34535012 (PubMed )
Supplement: advancesADV2021004562-suppl2.xlsx › S8
A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53.
Shatokhina O et al.
Genes, 2021
Progressive Familial Intrahepatic Cholestasis Associated With USP53 Gene Mutation in a Brazilian Child.
Porta G et al.
Journal of Pediatric Gastroenterology and Nutrition, 2021
Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.
Zhang J et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2020
Cholestatic Liver Disease due to Novel USP53 Mutations: A Case Series of Three Indian Children.
Samanta A et al.
Journal of Clinical and Experimental Hepatology, 0
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