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 ResearchMeSH KeywordsCells, CulturedCholesterolHumansMutationOsteochondrodysplasiasPelger-Huet AnomalyReceptors, Cytoplasmic and NuclearConceptsLamin 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