2002
A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease
Castillo S, Reyes G, Tejedor D, Mozas P, Suarez Y, Lasuncion M, Cenarro A, Civeira F, Alonso R, Mata P, Pocovi M, Group of FH O. A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease. Human Mutation 2002, 20: 477-477. PMID: 12442279, DOI: 10.1002/humu.9087.Peer-Reviewed Original ResearchConceptsDouble mutant alleleLDL receptor geneFamilial hypercholesterolemiaHomozygous patientsReceptor geneSpanish FH patientsCholesterol-lowering treatmentLDL cholesterol reductionPlasma cholesterol levelsAbility of LDLMitogen-stimulated lymphocytesCholesterol levelsCholesterol reductionFH patientsCardiovascular diseasePatientsHomozygous FHHeterozygous patientsUnrelated patientsCytometric analysisHypercholesterolemiaLDL bindingDefective LDL bindingCell proliferationGenetic disorders
1999
Impact of different low-density lipoprotein (LDL) receptor mutations on the ability of LDL to support lymphocyte proliferation
Martínez-Botas J, Suárez Y, Reshef A, Carrero P, Ortega H, Gómez-Coronado D, Teruel J, Leitersdorf E, Lasunción M. Impact of different low-density lipoprotein (LDL) receptor mutations on the ability of LDL to support lymphocyte proliferation. Metabolism 1999, 48: 834-839. PMID: 10421221, DOI: 10.1016/s0026-0495(99)90214-7.Peer-Reviewed Original ResearchConceptsLow-density lipoproteinAbility of LDLFamilial hypercholesterolemiaReceptor mutationsLow-density lipoprotein receptor mutationNormal low density lipoproteinHomozygous familial hypercholesterolemiaDifferent LDL receptor mutationsEndogenous cholesterol synthesisLDL receptor mutationsMitogen-stimulated lymphocytesLymphocyte proliferationPeripheral lymphocytesLDL particlesLymphocytesMitogenic effectCytometric analysisCholesterol synthesisLDL bindingCase 2Case 1Similar extentCompound heterozygotesDefective internalizationDifferent phenotypes