2016
The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations
Tsai PL, Zhao C, Turner E, Schlieker C. The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations. ELife 2016, 5: e16011. PMID: 27336722, PMCID: PMC4951196, DOI: 10.7554/elife.16011.Peer-Reviewed Original ResearchConceptsLamin B receptorInner nuclear membraneNuclear membraneHuman lamin B receptorPolytopic membrane proteinsGreenberg skeletal dysplasiaProtein turnover mechanismsHigher eukaryotesDisease-causing mutationsHuman cell linesNuclear laminaMutant proteinsMembrane proteinsMutant derivativesB receptorCholesterol auxotrophyTurnover mechanismsDisease-causing variantsPoint mutationsCholesterol synthesisEnzymatic activityCofactor NADPHFunction mechanismCell linesRapid degradation
2013
Regulation of Torsin ATPases by LAP1 and LULL1
Zhao C, Brown RS, Chase AR, Eisele MR, Schlieker C. Regulation of Torsin ATPases by LAP1 and LULL1. Proceedings Of The National Academy Of Sciences Of The United States Of America 2013, 110: e1545-e1554. PMID: 23569223, PMCID: PMC3637692, DOI: 10.1073/pnas.1300676110.Peer-Reviewed Original ResearchConceptsType II transmembrane proteinATP-bound stateTorsin ATPasesActivator functionLuminal domainTransmembrane proteinATP hydrolysisNuclear envelopeLULL1Endoplasmic reticulumAutosomal dominant movement disorderTorsinALAP1Activation mechanismATPase activityDistinct fashionFunction mechanismCongenital disorderMutantsATPasesCofactorProteinReticulumATPaseRegulation