Research case
MVA · BUB1B
Evidence-guided drug repurposing. Explore how two germline BUB1B variants raise separate RNA and protein questions in mosaic variegated aneuploidy, and which evidence could inform drug-repurposing hypotheses.
Research case
From published data · lib/biolab.js case registry
Connections (36)
- concerns Mosaic variegated aneuploidy syndrome 1 From published data
- concerns BUB1B From published data
- concerns L737* From published data
- concerns N1002K From published data
- includes Rescue of nonsense mutations by amlexanox in human cells From published data
- includes FDA historical Aphthasol label From published data
- includes Prophylactic and long-lasting efficacy of senolytic CAR T cells against age-related metabolic dysfunction From published data
- includes FDA — MIPLYFFA prescribing information (2024) From published data
- includes Clearance of p16Ink4a-positive senescent cells delays ageing-associated disorders From published data
- includes BubR1 TPR domain supports the mitotic checkpoint by promoting MCC formation and MCC-APC/C interaction From published data
- includes Induction of heat shock proteins in differentiated human neuronal cells following co-application of celastrol and arimoclomol From published data
- includes Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot–Marie–Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in GDAP1 Gene From published data
- includes Rapamycin reduces fibroblast proliferation without causing quiescence and induces STAT5A/B-mediated cytokine production From published data
- includes Autologous HER2-specific CAR T cells after lymphodepletion for advanced sarcoma: a phase 1 trial From published data
- includes Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons From published data
- includes Nivolumab in children and young adults with relapsed or refractory solid tumours or lymphoma (ADVL1412): a multicentre, open-label, single-arm, phase 1–2 trial From published data
- includes A Phase I/II Trial of Nivolumab plus Ipilimumab in Children and Young Adults with Relapsed/Refractory Solid Tumors: A Children's Oncology Group Study ADVL1412 From published data
- includes NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough From published data
- includes BubR1 allelic effects drive phenotypic heterogeneity in mosaic-variegated aneuploidy progeria syndrome From published data
- includes Quantitative Comparison of HSF1 Activators From published data
- includes Molecular Causes for BUBR1 Dysfunction in the Human Cancer Predisposition Syndrome Mosaic Variegated Aneuploidy From published data
- includes Genome-scale quantification and prediction of pathogenic stop codon readthrough by small molecules From published data
- includes Translational readthrough therapy for ADPKD induces polycystin1 expression and partially rescues functional deficits in PKD1 mutant cells From published data
- includes BUBR1 recruits PP2A via the B56 family of targeting subunits to promote chromosome congression From published data
- includes Molecular profiling of individual FDA-approved clinical drugs identifies modulators of nonsense-mediated mRNA decay From published data
- includes Amlexanox: context-dependent readthrough evidence From published data
- includes Arimoclomol: target engagement and exposure gap From published data
- includes BUBR1 functional controls: arrest duration From published data
- includes Cytostasis confounding: denominator unit test From published data
- includes Immunotherapy: disease rescue versus tumor control From published data
- includes L737* NMD-first: test truncated-protein function From published data
- includes N1002K stabilization: equal-expression gate From published data
- includes 704-drug NMD screen: reporter specificity From published data
- includes Rapamycin in human fibroblasts: BUB1B locus RNA signal From published data
- includes L737* readthrough: exact versus nearby contexts From published data
- includes Readthrough combinations: endogenous-protein transfer gap From published data