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
Natural course and outcomes of children with ubiquitin-specific protease 53 (USP53)-related genetic chronic cholestasis.
Alam S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2024
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
A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report.
Ateş BB et al.
The Turkish Journal of Pediatrics, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
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
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