2023
Dnajb11-Kidney Disease Develops from Reduced Polycystin-1 Dosage but not Unfolded Protein Response in Mice
Roy S, Li Z, Guo Z, Long K, Rehrl S, Tian X, Dong K, Besse W. Dnajb11-Kidney Disease Develops from Reduced Polycystin-1 Dosage but not Unfolded Protein Response in Mice. Journal Of The American Society Of Nephrology 2023, 34: 1521-1534. PMID: 37332102, PMCID: PMC10482070, DOI: 10.1681/asn.0000000000000164.Peer-Reviewed Original ResearchConceptsUnfolded protein responseAutosomal dominant tubulointerstitial kidney diseaseAutosomal dominant polycystic kidney diseasePolycystin-1Autosomal-dominant polycystic kidney diseaseProtein responseTubulointerstitial kidney diseaseKidney diseaseRenal failureRenal failure in adulthoodPolycystic kidney diseaseUnfolded protein response activationFull-length proteinProteins polycystin-1C-terminal fragmentCystic kidneysSite of maturationCystic kidney dysplasiaKidney disease pathogenesisHeterozygous inactivating mutationsHsp40 cochaperonesEndoplasmic reticulumMouse model studiesConditional allelesDNAJB11
2022
The extra-cerebellar effects of spinocerebellar ataxia type 1 (SCA1): looking beyond the cerebellum
Olmos V, Gogia N, Luttik K, Haidery F, Lim J. The extra-cerebellar effects of spinocerebellar ataxia type 1 (SCA1): looking beyond the cerebellum. Cellular And Molecular Life Sciences 2022, 79: 404. PMID: 35802260, PMCID: PMC9993484, DOI: 10.1007/s00018-022-04419-7.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsSpinocerebellar ataxia type 1Type 1Ataxia type 1Cerebellar Purkinje cell lossProgressive motor deficitsSCA1 patientsPurkinje cell lossMouse model studiesMotor deficitsLimb incoordinationNumber of CAGMouse modelRespiratory problemsMemory impairmentCell lossCerebellar regionsCognitive defectsNeurodegenerative diseasesPatientsAtaxin-1 proteinDiverse pathologiesATXN1 expressionCerebellumDiseaseFurther investigation
2016
TRPV2 is a novel biomarker and therapeutic target in triple negative breast cancer
Elbaz M, Ahirwar D, Xiaoli Z, Zhou X, Lustberg M, Nasser M, Shilo K, Ganju R. TRPV2 is a novel biomarker and therapeutic target in triple negative breast cancer. Oncotarget 2016, 9: 33459-33470. PMID: 30323891, PMCID: PMC6173360, DOI: 10.18632/oncotarget.9663.Peer-Reviewed Original ResearchTriple-negative breast cancerTransient receptor potential vanilloid type-2Negative breast cancerTNBC patientsTRPV2 expressionBreast cancerHigher recurrence-free survivalRecurrence-free survivalLimited therapeutic optionsGood prognostic markerEfficacy of chemotherapyNovel therapeutic strategiesNormal breast tissueMouse model studiesFree survivalNegative patientsAggressive diseaseTherapeutic optionsCancer patientsTNBC tumorsPrognostic markerTNBC tissuesTRPV2 activationNovel biomarkersTherapeutic strategies
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