2018
Metabolism and mitochondria in polycystic kidney disease research and therapy
Padovano V, Podrini C, Boletta A, Caplan MJ. Metabolism and mitochondria in polycystic kidney disease research and therapy. Nature Reviews Nephrology 2018, 14: 678-687. PMID: 30120380, DOI: 10.1038/s41581-018-0051-1.Peer-Reviewed Original ResearchConceptsPolycystic kidney disease 1Polycystin-1Autosomal dominant polycystic kidney diseaseHallmark of ADPKDFluid-filled renal cystsPolycystin proteinsADPKD cellsPKD genesMolecular mechanismsOxidative phosphorylationCell metabolismRegulatory rolePhysiological functionsADPKD pathogenesisEnergy metabolismPotential therapeutic targetMonogenic diseasesEnergy productionMitochondriaDominant polycystic kidney diseasePolycystic kidney diseaseTherapeutic targetMutationsAlternative pathwayMetabolism
2010
A yeast‐based recombinogenic targeting toolset for transgenic analysis of human disease genes
Bentley KL, Shashikant CS, Wang W, Ruddle NH, Ruddle FH. A yeast‐based recombinogenic targeting toolset for transgenic analysis of human disease genes. Annals Of The New York Academy Of Sciences 2010, 1207: e58-e68. PMID: 20961307, DOI: 10.1111/j.1749-6632.2010.05712.x.Peer-Reviewed Original ResearchConceptsPolycystic kidney disease 1Yeast-bacterial shuttle vectorHuman disease genesFunction of genesLarge insert DNABacterial artificial chromosomeGene of interestTransgenic analysisGenomic fragmentArtificial chromosomesDNA insertsDisease genesBiological processesShuttle vectorHuman diseasesGenesGene modificationClaspettesPClasperMouse modelValuable resourceTransgenic mouse modelTransgenic miceCritical insightsImmune system
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