IndraLab

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BAP1 activates BAP1. 7 / 7
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"Reduced levels of BAP1 in the genetically predisposed carriers of the mutated BAP1 forms are responsible for the reduction both of IP3R3 levels and Ca flux, preventing BAP1 cells that accumulate DNA damage from executing apoptosis."
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"Germline pathogenic variants in the BRCA1 associated protein-1 (BAP1) gene cause the BAP1 tumor predisposition syndrome (TPDS)."
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"Pathogenic germline variants in the BRCA1 associated protein 1 (BAP1) gene cause the BAP1 tumor predisposition syndrome (BAP1-TPDS) with increased risk of several cancers, the most frequent of which is uveal melanoma (UM)."
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"While ubiquitination enzyme UBE2O monoubiquitinates the NLS of BAP1 and induces translocation (inactivation) of BAP1 from the nucleus to the cytoplasm, DUB activity of the UCH-domain of BAP1 counteracts the UBE2O activity mediated through the intramolecular interaction between the UCH-domain and COOH-terminal domain of BAP1."
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"Identified in 2011, the inherited cancer predisposition syndrome caused by germline mutations in the tumor suppressor gene BAP1 (BRCA1 Associated Protein 1) has shed light for the first time on monoge[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"The BAP1 cancer syndrome (Mendelian Inheritance in Man Tumor Predisposition Syndrome # 614327) is caused by heterozygous germline mutation in the BRCA1 associated protein-1 gene (BAP1) located at chromosome 3p21.1."
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"Heterozygous loss of BAP1 would reduce overall levels of BAP1 protein, disfavouring bidentate complex assembly and decreasing specific activity."
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