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USP53

Ubiquitin carboxyl-terminal hydrolase 53 · UniProt Q70EK8

Length
1073 aa
Mass
120.8 kDa
Annotated
2026-06-11
33 papers in source corpus 21 papers cited in narrative 21 extracted findings
Cross-family judge vs UniProt: tie faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

USP53 is a K63-linkage-directed deubiquitinase that integrates epithelial tight-junction architecture, intracellular trafficking, and protein-stability control across multiple tissues [PMID:bio_10.1101_2024.07.07.602376, PMID:40828662]. Originally annotated as a catalytically inactive USP-domain protein, it was reclassified as an active enzyme: biochemical and structural analysis demonstrated K63-specific cleavage through S2-ubiquitin-binding sites in its catalytic domain, and disease-associated patient mutations abolish this activity [PMID:bio_10.1101_2024.07.07.602376]. In polarized epithelia and hepatocytes USP53 colocalizes and physically associates with the tight-junction scaffolds TJP1 and TJP2, and its loss elongates hepatocyte–hepatocyte tight junctions, recapitulating TJP2 disease morphology (PMID:26609154, PMID:32124521, PMID:39705897). Its best-defined biliary mechanism is the deubiquitination of MYO5B through the MYO5B IQ domain: USP53 loss raises MYO5B ubiquitination, impairs endosomal MYO5B recruitment, and traps the bile-salt export pump BSEP in RAB11A-positive recycling endosomes, blocking its delivery to the plasma membrane (PMID:40828662). Consistent with this, human truncating USP53 variants cause low-GGT intrahepatic cholestasis with hearing loss (PMID:30250217). Beyond the liver, USP53 acts as a substrate-stabilizing DUB in diverse contexts—removing degradative ubiquitin from FKBP51, CYCS, CRKL, ZMYND11, MORF4L1, SR-A, RIPK1, NOTCH2 and SMAD5—to modulate apoptosis, glycolysis, foam-cell formation, bone and adipocyte lineage commitment, and tumor growth (PMID:32511815, PMID:35654790, PMID:37894400, PMID:38904030, PMID:39044157, PMID:40828662, PMID:41061828, PMID:40481141). Its expression is tightly controlled transcriptionally by inputs including PTH/NACA, H3K27ac, DKK1/CREB, EGR1, ATF3, FOS and EIF4A3 (PMID:33875709, PMID:34919659, PMID:38904030, PMID:40822127, PMID:39641389, PMID:41045624).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 2015 High

    Established USP53 as a tight-junction-associated protein by showing it interacts with the scaffolds TJP1/TJP2 and is required for cochlear hair-cell integrity, framing it as a junctional component rather than a free enzyme.

    Evidence ENU mutant (mambo) mice, reciprocal Co-IP, colocalization, barrier tracer and organotypic rescue assays

    PMID:26609154

    Open questions at the time
    • USP domain annotated as catalytically inactive—no enzymatic activity tested
    • no biliary phenotype examined
    • direct substrate of any junction-associated activity unknown
  2. 2018 Medium

    Linked USP53 loss-of-function to a human Mendelian disease, defining low-GGT cholestasis with hearing loss and placing USP53 in the TJP2 bile-homeostasis pathway.

    Evidence Exome sequencing with segregation in human families; interaction cited from prior mouse work

    PMID:30250217

    Open questions at the time
    • molecular mechanism of cholestasis not resolved
    • no demonstration of how junctional disruption causes bile defect
  3. 2020 Medium

    Provided ultrastructural evidence that USP53 deficiency phenocopies TJP2 disease at the tight junction, supporting a shared mechanistic pathway in hepatocytes.

    Evidence Whole-exome sequencing and transmission electron microscopy of patient liver biopsies

    PMID:32124521

    Open questions at the time
    • correlative human morphology, no manipulation
    • no enzymatic mechanism
  4. 2020 Medium

    First implicated USP53 as a deubiquitinase acting on a specific substrate (FKBP51) with downstream signaling consequences, opening the catalytic-substrate question.

    Evidence Co-IP, ubiquitination assay, AKT inhibitor epistasis, xenograft in lung adenocarcinoma cells

    PMID:32511815

    Open questions at the time
    • catalytic activity not directly demonstrated at the time given inactive annotation
    • single lab
    • linkage specificity not defined
  5. 2021 Medium

    Identified USP53 as a transcriptionally regulated (PTH/NACA) modulator of mesenchymal lineage commitment, extending its role to bone and fat.

    Evidence ChIP-seq, EMSA, luciferase, shRNA, in vivo stromal cell implantation

    PMID:33875709

    Open questions at the time
    • substrate mediating lineage effect not identified
    • enzymatic dependence untested
  6. 2022 Medium

    Expanded USP53 substrate range to apoptotic and metabolic regulation, deubiquitinating CYCS to promote apoptosis and suppressing glycolysis upstream of AMPK in cancer.

    Evidence Co-IP/MS, cycloheximide chase, rescue assays (CYCS); ChIP and AMPK inhibitor epistasis (esophageal carcinoma)

    PMID:34919659 PMID:35654790

    Open questions at the time
    • linkage specificity of CYCS deubiquitination undefined
    • AMPK connection lacks direct substrate
    • single lab per study
  7. 2023 Medium

    Accumulated multiple context-specific substrates (CRKL, AMPA-receptor interactome) and a bone mechanism via VDR–SMAD3, broadening USP53 to tumor progression, synaptic, and skeletal roles.

    Evidence Co-IP and ubiquitination assays (CRKL); colocalization/Co-IP in brain (GRIA2/GRIP2); Usp53 KO mice with microCT and VDR-SMAD3 Co-IP

    PMID:36726200 PMID:37894400 PMID:37895270

    Open questions at the time
    • AMPA-receptor association lacks functional follow-up
    • CRKL study single Co-IP/single lab
    • how USP53 enhances VDR-SMAD3 binding mechanistically unclear
  8. 2024 High

    Defined the central biliary mechanism: USP53 deubiquitinates MYO5B via its IQ domain to enable endosomal recruitment and BSEP plasma-membrane trafficking, mechanistically uniting the cholestasis phenotype with a substrate.

    Evidence Co-IP, CRISPR-KO, surface biotinylation, live imaging/FRAP, site-directed mutagenesis, patient tissue

    PMID:40828662

    Open questions at the time
    • link between MYO5B deubiquitination and tight-junction morphology not fully integrated
    • ubiquitin-linkage type on MYO5B not specified in this study
  9. 2024 Medium

    Added further substrates and transcriptional regulators—SR-A (K48 chains, foam-cell formation downstream of DKK1/CREB), ZMYND11 (anti-tumor), and TJP2 in liver-specific KO mice—broadening USP53's reach in atherosclerosis, cancer, and bile homeostasis.

    Evidence Co-IP, ChIP, domain mapping, conditional/AAV mouse models

    PMID:38904030 PMID:39044157 PMID:39705897

    Open questions at the time
    • mixed linkage specificity across substrates (K48 vs K63) not reconciled
    • single lab per finding
  10. 2025 High

    Resolved the long-standing catalytic question by reconstituting USP53 as an active K63-linkage-specific DUB with K63-specific S2-ubiquitin-binding sites, and showed patient mutations abrogate this activity.

    Evidence Linkage-specific biochemical DUB assays, structural analysis, patient-variant functional testing (preprint)

    PMID:bio_10.1101_2024.07.07.602376

    Open questions at the time
    • preprint, not peer-reviewed
    • reconciliation with reported K48 activity on SR-A unresolved
    • physiological tricellular-junction substrates incompletely mapped
  11. 2025 Medium

    Extended K63-directed activity to cell-death control via site-specific deubiquitination of RIPK1 (K377) and stabilization of MLKL/GSDMD, plus NOTCH2, SMAD5 and MORF4L1, with multiple transcription factors (EGR1, FOS, EIF4A3, ATF3) controlling USP53 levels.

    Evidence Co-IP/MS, site-specific ubiquitination mapping, conditional KO mice, ChIP/luciferase, rescue experiments

    PMID:39641389 PMID:40481141 PMID:40822127 PMID:41045624 PMID:41061828 PMID:41482165

    Open questions at the time
    • substrate set is large and largely single-lab
    • tissue selectivity of substrate choice unexplained
    • RIPK1/MLKL/GSDMD studies lack structural validation

Open questions

Synthesis pass · forward-looking unresolved questions
  • How a single K63-directed DUB selects such divergent substrates across liver, bone, brain, heart, and tumor tissues—and how this reconciles with reported K48 cleavage—remains unresolved.
  • no unified model of substrate-recruitment specificity
  • linkage-specificity conflict (K63 vs K48) unreconciled
  • most non-hepatic substrates rest on single Co-IP/ubiquitination studies

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140096 catalytic activity, acting on a protein 8 GO:0016787 hydrolase activity 2
Localization
GO:0005886 plasma membrane 2 GO:0005768 endosome 1
Pathway
R-HSA-1266738 Developmental Biology 3 R-HSA-5357801 Programmed Cell Death 3 R-HSA-5653656 Vesicle-mediated transport 1
Complex memberships
tight junction

Evidence

Reading pass · 21 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2015 USP53 contains a catalytically inactive ubiquitin-specific protease domain (as annotated at the time) and colocalizes and physically interacts with tight junction scaffolding proteins TJP1 and TJP2 in polarized epithelial cells, indicating it is part of the tight junction complex. Loss of USP53 in mambo mice causes outer hair cell degeneration and reduced endocochlear potential; hair cell loss is rescued in low-potassium cochlear organotypic cultures, indicating it is triggered by extracellular factors. ENU mutagenesis mouse model, co-immunoprecipitation, colocalization imaging, biotin tracer assay for tight junction barrier, cochlear organotypic culture rescue experiment The Journal of neuroscience High 26609154
2018 USP53 interacts with tight junction constituent TJP2, and loss-of-function (homozygous truncating variants) causes low-GGT cholestasis and hearing loss in humans, placing USP53 functionally in the TJP2-containing tight junction pathway in bile homeostasis. Exome sequencing with segregation analysis; prior interaction evidence cited from mouse data Genetics in medicine Medium 30250217
2020 USP53 deubiquitinates FKBP51 (identified by co-immunoprecipitation and ubiquitination assay), stabilizing it; stabilized FKBP51 then dephosphorylates AKT1, thereby inhibiting tumor growth in lung adenocarcinoma cells. Co-immunoprecipitation, ubiquitination assay, stable overexpression/shRNA cell lines, AKT pathway inhibitor (LY294002), in vivo xenograft Molecular carcinogenesis Medium 32511815
2020 USP53 interacts with TJP2; in USP53-deficient human liver biopsies, hepatocyte–hepatocyte tight junctions are elongated by ultrastructural analysis, recapitulating TJP2 disease morphology. Whole-exome sequencing, transmission electron microscopy of liver biopsies, clinical phenotype correlation Liver international Medium 32124521
2021 USP53 is a transcriptional target of PTH-activated NACA in osteoblasts; a NACA binding site in the Usp53 promoter was confirmed by EMSA. Usp53 knockdown in ST2 stromal cells increases osteoblastic markers and decreases adipogenic markers, and in vivo implantation of Usp53-knockdown bone marrow stromal cells increases osteoblast number and decreases adipocyte counts, indicating USP53 modulates mesenchymal lineage commitment. ChIP-Seq, RNA-seq, EMSA, promoter-activity luciferase assay, shRNA knockdown, in vivo implantation in immunocompromised mice Scientific reports Medium 33875709
2022 USP53 physically interacts with cytochrome c (CYCS), identified by co-immunoprecipitation and mass spectrometry, and overexpression of USP53 increases CYCS protein stability following cycloheximide treatment. Overexpression of CYCS compensates for decreased apoptosis in USP53-knockdown HCC cells, demonstrating that USP53 promotes apoptosis through deubiquitination of CYCS. Co-immunoprecipitation, mass spectrometry, cycloheximide chase, shRNA knockdown, overexpression rescue assay Oncogenesis Medium 35654790
2022 H3K27 acetylation activates USP53 transcription by binding to the USP53 promoter region, as shown by ChIP assay. USP53 suppresses glycolysis, oxidative metabolism, and mitochondrial dynamics, and its knockdown is reversed by AMPK inhibitor, placing USP53 upstream of the AMPK signaling pathway in esophageal carcinoma. ChIP assay, AMPK inhibitor treatment, shRNA knockdown, in vitro and in vivo growth assays, metabolic assays Carcinogenesis Medium 34919659
2023 USP53 regulates RANKL (Rankl) expression by enhancing the interaction between VDR and SMAD3 in osteoblasts and bone marrow adipocytes. Usp53 null mice show low bone mass, increased osteoclast numbers, and elevated serum RANKL. Usp53 knockout mice, microCT, histomorphometry, ELISA for RANKL, co-immunoprecipitation of VDR-SMAD3 complex Journal of bone and mineral research Medium 36726200
2023 USP53 directly binds CRKL and deubiquitinates it, preventing proteasomal degradation and stabilizing CRKL protein, thereby promoting tumor growth, metastasis, and chemoresistance in triple-negative breast cancer. Co-immunoprecipitation, ubiquitination assay, overexpression and knockdown functional assays Cancers Low 37894400
2023 USP53 colocalizes in hippocampal CA1-3 and granular dentate neurons with GRIA2/GluA2 and GRIP2, and all three proteins co-immunoprecipitate, placing USP53 within the AMPA receptor interactome in brain tissue. Immunofluorescence colocalization, co-immunoprecipitation Genes Low 37895270
2024 USP53 binds SR-A via its USP domain and cysteine at position 41, removes K48-linked ubiquitin chains from SR-A, and prevents its proteasomal degradation, thereby mediating foam cell formation in smooth muscle cells downstream of endothelial DKK1 signaling. DKK1 regulates USP53 transcription by facilitating CREB binding to the USP53 promoter. Co-immunoprecipitation, ChIP, RNA-seq, endothelium-specific DKK1 KO and overexpression mice, AAV-mediated SMC-specific USP53 overexpression, parallel-plate co-culture flow system International journal of biological sciences Medium 38904030
2024 USP53 interacts with ZMYND11, catalyzes its deubiquitination and stabilization. The Cys-box domain (aa 33–50) is key for USP53 enzymatic activity but not required for binding to ZMYND11. Rescue experiments show USP53's anti-tumor effect in breast cancer is at least partially mediated through ZMYND11. Co-immunoprecipitation, ubiquitination assay, domain deletion/mutation analysis, rescue overexpression experiments, xenograft Biological procedures online Medium 39044157
2024 USP53 interacts with and deubiquitinates MYO5B via its IQ domain. Loss of USP53 causes increased ubiquitination of MYO5B and impairs endosomal recruitment of MYO5B, resulting in BSEP accumulation in MYO5B/RAB11A-positive recycling endosomes and failure of BSEP trafficking to the plasma membrane. The recurrent PFIC-associated MYO5B p.(Arg824Cys) variant (in the IQ domain) fails to interact with USP53. Co-immunoprecipitation, CRISPR-KO, surface protein biotinylation, confocal immunofluorescence, live cell imaging, FRAP, site-directed mutagenesis, immunohistochemistry of patient tissue Hepatology High 40828662
2024 USP53 interacts with and deubiquitinates USP53 interacts with TJP2 in hepatocytes, demonstrated by co-immunoprecipitation and immunofluorescence. Usp53 liver-specific KO mice show upregulation of Tjp2 and longer hepatocellular tight junctions, and are protected from DDC-induced liver injury, suggesting USP53 and TJP2 share mechanistic pathways in bile homeostasis. Liver-specific Cre-lox knockout mice, immunofluorescence, co-immunoprecipitation, dietary challenge models, RT-qPCR, histopathology, electron microscopy Biochimica et biophysica acta. Molecular basis of disease Medium 39705897
2025 USP53 is active against K63-linked polyubiquitin chains (not catalytically inactive as previously annotated). USP53 patient mutations abrogate catalytic activity. USP53 deubiquitinates substrates in a K63-linkage-dependent manner, and depletion of USP53 increases K63-linked ubiquitination of tricellular junction components. Structural analysis reveals K63-specific S2-ubiquitin-binding sites within the catalytic domain. Biochemical DUB activity assays with defined ubiquitin chain linkages, structural analysis, patient mutation functional testing, substrate-bound polyubiquitin assays, depletion experiments with K63-ubiquitination readout bioRxiv (preprint)preprint High bio_10.1101_2024.07.07.602376
2025 USP53 interacts with RIPK1 (via its intermediate domain) and removes K63-linked ubiquitination at lysine-377 (K377) of RIPK1, facilitating RIPK1 autophosphorylation and triggering apoptotic and necroptotic pathways in cardiomyocytes. Ethanol induces USP53 expression via transcription factor EGR1. Cardiomyocyte-specific USP53 knockout mice show improved survival and less cardiomyocyte death in an alcoholic cardiomyopathy model. Co-immunoprecipitation combined with LC-MS/MS, site-specific ubiquitination mapping (K377), cardiomyocyte-specific KO mouse model, in vivo/in vitro ethanol exposure models Research (Washington, D.C.) Medium 40822127
2025 USP53 interacts with NOTCH2 and its knockdown prevents Aβ-induced deubiquitination of NOTCH2 in microglia. USP53 knockdown reduces Aβ-induced neuroinflammatory mediators (IL-1β, TNF-α) and represses IKKβ/NFκB signaling pathway activation. USP53 knockout in 5XFAD mice improves learning and memory and reduces Tau accumulation. Co-immunoprecipitation, USP53 knockout in 5XFAD AD mouse model, Morris Water Maze, Western blot, immunofluorescence, qRT-PCR, primary human microglia knockdown Neurochemistry international Medium 41482165
2025 USP53 binds MORF4L1 and deubiquitinates it, with K249 and K227 of MORF4L1 identified as key ubiquitination sites. USP53 overexpression prevents MORF4L1 ubiquitination and degradation, and suppresses colorectal cancer cell growth; this effect is abrogated by MORF4L1 silencing. Co-immunoprecipitation combined with LC-MS/MS (IP-LC/MS), ubiquitylome analysis, site-directed mutagenesis of MORF4L1 ubiquitination sites, in vitro and in vivo gain/loss-of-function, rescue experiments Biochimica et biophysica acta. Molecular basis of disease Medium 41061828
2025 ATF3 transcriptionally represses USP53 by binding the USP53 promoter (validated by ChIP and luciferase reporter assay). USP53 upregulation promotes adipogenesis and activates the RhoA/ROCK pathway; USP53 overexpression partially rescues the inhibitory effect of ATF3 overexpression on adipogenesis. ChIP assay, luciferase reporter assay, Oil Red O staining, triglyceride measurement, Western blot, RT-qPCR, 3T3-L1 adipocyte differentiation model Journal of molecular endocrinology Medium 39641389
2025 USP53 deubiquitinates SMAD5, stabilizing its protein expression; the EIF4A3 RNA-binding protein stabilizes USP53 mRNA. Knockdown of USP53 inhibits BMSC viability, invasion, and osteogenic differentiation, effects rescued by SMAD5 overexpression, establishing the EIF4A3–USP53–SMAD5 axis in BMSC osteogenic differentiation. Co-immunoprecipitation, ubiquitination assay, shRNA knockdown, overexpression rescue, ALP activity assay, Alizarin Red S staining, RT-qPCR, Western blot Scientific reports Low 40481141
2025 USP53 deubiquitinates MLKL and GSDMD, promoting their stability; FOS transcriptionally activates USP53 expression by directly binding the USP53 promoter (validated by ChIP-qPCR). Reduced FOS (by juglone treatment) lowers USP53, promoting ubiquitination and degradation of MLKL and GSDMD, thereby inhibiting necroptosis and pyroptosis in injured neurons. ChIP-qPCR, immunoprecipitation, Western blot, RNA-seq, qRT-PCR, in vitro OGD/R and in vivo SCI models Phytomedicine Low 41045624

Source papers

Stage 0 corpus · 33 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2018 Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants. Genetics in medicine : official journal of the American College of Medical Genetics 88 30250217
2015 Progressive Hearing Loss in Mice Carrying a Mutation in Usp53. The Journal of neuroscience : the official journal of the Society for Neuroscience 56 26609154
2020 Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization. Liver international : official journal of the International Association for the Study of the Liver 42 32124521
2020 USP53 promotes apoptosis and inhibits glycolysis in lung adenocarcinoma through FKBP51-AKT1 signaling. Molecular carcinogenesis 31 32511815
2021 Cholestasis Due to USP53 Deficiency. Journal of pediatric gastroenterology and nutrition 30 33075013
2020 New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin. Journal of human genetics 29 32759993
2023 USP53 Regulates Bone Homeostasis by Controlling Rankl Expression in Osteoblasts and Bone Marrow Adipocytes. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 21 36726200
2022 USP53 plays an antitumor role in hepatocellular carcinoma through deubiquitination of cytochrome c. Oncogenesis 20 35654790
2021 Ubiquitin specific peptidase Usp53 regulates osteoblast versus adipocyte lineage commitment. Scientific reports 16 33875709
2022 USP53 activated by H3K27 acetylation regulates cell viability, apoptosis and metabolism in esophageal carcinoma via the AMPK signaling pathway. Carcinogenesis 14 34919659
2021 Progressive Familial Intrahepatic Cholestasis Associated With USP53 Gene Mutation in a Brazilian Child. Journal of pediatric gastroenterology and nutrition 11 33661244
2021 Biallelic Mutations in Ubiquitin-Specific Peptidase 53 (USP53) Causing Progressive Intrahepatic Cholestasis. Report of a Case With Review of Literature. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 11 34809518
2022 Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature. Molecular syndromology 10 36660033
2021 A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53. Genes 9 34681012
2024 Endothelial Dickkopf-1 Promotes Smooth Muscle Cell-derived Foam Cell Formation via USP53-mediated Deubiquitination of SR-A During Atherosclerosis. International journal of biological sciences 8 38904030
2024 USP53 Affects the Proliferation and Apoptosis of Breast Cancer Cells by Regulating the Ubiquitination Level of ZMYND11. Biological procedures online 8 39044157
2024 An Overview of the Deubiquitinase USP53: A Promising Diagnostic Marker and Therapeutic Target. Current protein & peptide science 8 39300775
2023 USP53 Exerts Tumor-Promoting Effects in Triple-Negative Breast Cancer by Deubiquitinating CRKL. Cancers 4 37894400
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. Genes 4 37895270
2024 Natural course and outcomes of children with ubiquitin-specific protease 53 (USP53)-related genetic chronic cholestasis. Journal of pediatric gastroenterology and nutrition 3 39440620
2024 Loss of hepatocyte Usp53 protects mice from a form of xenobiotic-induced liver injury. Biochimica et biophysica acta. Molecular basis of disease 3 39705897
2025 EIF4A3 enhances the viability, invasion and osteogenic differentiation of BMSCs via the USP53/SMAD5 pathway. Scientific reports 2 40481141
2025 USP53 Drives Ethanol-Induced Myocardial Injury by Promoting K63 Deubiquitination-Dependent RIPK1 Activation at K377. Research (Washington, D.C.) 2 40822127
2025 Juglone promotes spinal cord injury recovery by suppressing pyroptosis and necroptosis through FOS/USP53/ubiquitination. Phytomedicine : international journal of phytotherapy and phytopharmacology 2 41045624
2023 A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report. The Turkish journal of pediatrics 2 38204320
2023 Cholestatic Liver Disease due to Novel USP53 Mutations: A Case Series of Three Indian Children. Journal of clinical and experimental hepatology 2 38544763
2023 The First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with Novel USP53 Splicing Variants by Next Generation Sequencing. Yonsei medical journal 1 37992747
2025 ATF3 suppresses 3T3-L1 adipocyte adipogenesis by transcriptionally repressing USP53. Journal of molecular endocrinology 0 39641389
2025 A novel mechanism involving USP53-regulated BSEP trafficking underlies low-GGT intrahepatic cholestasis. Hepatology (Baltimore, Md.) 0 40828662
2025 Deubiquitinase USP53 suppressed tumorigenesis of colorectal cancer cells by mediating deubiquitination of MORF4L1. Biochimica et biophysica acta. Molecular basis of disease 0 41061828
2025 Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion-novel findings and literature review. Frontiers in genetics 0 41356217
2025 USP53 promotes NOTCH2-induced neuroinflammation in Alzheimer's disease. Neurochemistry international 0 41482165
2024 A novel case report of benign recurrent intrahepatic cholestasis-associated USP53 genetic mutation in a Pakistani girl. SAGE open medical case reports 0 39071191

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