about
Adenylate cyclase toxin promotes internalisation of integrins and raft components and decreases macrophage adhesion capacityMembrane restructuring by Bordetella pertussis adenylate cyclase toxin, a member of the RTX toxin family.Double-tailed lipid modification as a promising candidate for oligonucleotide delivery in mammalian cells.Calpain-Mediated Processing of Adenylate Cyclase Toxin Generates a Cytosolic Soluble Catalytically Active N-Terminal Domain.Ca2+ influx and tyrosine kinases trigger Bordetella adenylate cyclase toxin (ACT) endocytosis. Cell physiology and expression of the CD11b/CD18 integrin major determinants of the entry route.Human LDL structural diversity studied by IR spectroscopyAdvantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment.The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.Lipid-modified oligonucleotide conjugates: Insights into gene silencing, interaction with model membranes and cellular uptake mechanisms.Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.Structural changes induced by acidic pH in human apolipoprotein B-100.Bordetella adenylate cyclase toxin promotes calcium entry into both CD11b+ and CD11b- cells through cAMP-dependent L-type-like calcium channels.Adenylate Cyclase Toxin promotes bacterial internalisation into non phagocytic cells.The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes.PCSK9 and lipoprotein (a) levels are two predictors of coronary artery calcification in asymptomatic patients with familial hypercholesterolemia.Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.Functional characterization and classification of frequent low-density lipoprotein receptor variants.Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognitionGsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locusCharacterization of the First PCSK9 Gain of Function HomozygoteMutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLRPredicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia
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description
researcher ORCID ID = 0000-0002-4087-8729
@en
wetenschapper
@nl
name
Cesar Martin
@ast
Cesar Martin
@en
Cesar Martin
@es
Cesar Martin
@nl
type
label
Cesar Martin
@ast
Cesar Martin
@en
Cesar Martin
@es
Cesar Martin
@nl
prefLabel
Cesar Martin
@ast
Cesar Martin
@en
Cesar Martin
@es
Cesar Martin
@nl
P106
P1153
7405843847
P31
P496
0000-0002-4087-8729