List of works - Cesar Martin

<i>BIRC6</i> Is Associated with Vulnerability of Carotid Atherosclerotic Plaque

scientific article published on 09 December 2020

Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.

scientific article published on 20 December 2014

Adenylate Cyclase Toxin promotes bacterial internalisation into non phagocytic cells.

scientific article published on 8 September 2015

Adenylate cyclase toxin promotes internalisation of integrins and raft components and decreases macrophage adhesion capacity

scientific article

Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment

scientific article

An atlas of O-linked glycosylation on peptide hormones reveals diverse biological roles

scientific article published on 20 August 2020

Bordetella adenylate cyclase toxin promotes calcium entry into both CD11b+ and CD11b- cells through cAMP-dependent L-type-like calcium channels.

scientific article published on 29 October 2009

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

scientific article

Calpain-Mediated Processing of Adenylate Cyclase Toxin Generates a Cytosolic Soluble Catalytically Active N-Terminal Domain.

scientific article

Characterization of the First PCSK9 Gain of Function Homozygote

scientific article published in November 2015

Cholesterol Efflux Efficiency of Reconstituted HDL Is Affected by Nanoparticle Lipid Composition

scientific article published on 23 September 2020

Double-tailed lipid modification as a promising candidate for oligonucleotide delivery in mammalian cells.

scientific article

Functional characterization and classification of frequent low-density lipoprotein receptor variants.

scientific article published on 27 November 2014

Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus

article

Human LDL structural diversity studied by IR spectroscopy

scientific article

Lipid-modified oligonucleotide conjugates: Insights into gene silencing, interaction with model membranes and cellular uptake mechanisms.

scientific article

Membrane restructuring by Bordetella pertussis adenylate cyclase toxin, a member of the RTX toxin family

scientific article

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR

scientific article published on 03 February 2020

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia

scientific article published on 13 November 2013

PCSK9 and lipoprotein (a) levels are two predictors of coronary artery calcification in asymptomatic patients with familial hypercholesterolemia.

scientific article published on 27 August 2016

Pathophysiology of Type 2 Diabetes Mellitus

scientific article published on 30 August 2020

Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia

scientific article published on 29 November 2019

Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition

scientific article published in PLoS ONE

Statin Treatment-Induced Development of Type 2 Diabetes: From Clinical Evidence to Mechanistic Insights ⬇️

scientific article published on 02 July 2020

Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity

scientific article

Structural changes induced by acidic pH in human apolipoprotein B-100.

scientific article published on 8 November 2016

The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.

scientific article published on 5 March 2015

The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes

scientific article

The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia

scientific article

miR-27b Modulates Insulin Signaling in Hepatocytes by Regulating Insulin Receptor Expression

scientific article published on 17 November 2020

List of works by Cesar Martin

<i>BIRC6</i> Is Associated with Vulnerability of Carotid Atherosclerotic Plaque

Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.

Adenylate Cyclase Toxin promotes bacterial internalisation into non phagocytic cells.

Adenylate cyclase toxin promotes internalisation of integrins and raft components and decreases macrophage adhesion capacity

Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment

An atlas of O-linked glycosylation on peptide hormones reveals diverse biological roles

Bordetella adenylate cyclase toxin promotes calcium entry into both CD11b+ and CD11b- cells through cAMP-dependent L-type-like calcium channels.

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

Calpain-Mediated Processing of Adenylate Cyclase Toxin Generates a Cytosolic Soluble Catalytically Active N-Terminal Domain.

Characterization of the First PCSK9 Gain of Function Homozygote

Cholesterol Efflux Efficiency of Reconstituted HDL Is Affected by Nanoparticle Lipid Composition

Double-tailed lipid modification as a promising candidate for oligonucleotide delivery in mammalian cells.

Functional characterization and classification of frequent low-density lipoprotein receptor variants.

Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus

Human LDL structural diversity studied by IR spectroscopy

Lipid-modified oligonucleotide conjugates: Insights into gene silencing, interaction with model membranes and cellular uptake mechanisms.

Membrane restructuring by Bordetella pertussis adenylate cyclase toxin, a member of the RTX toxin family

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia

PCSK9 and lipoprotein (a) levels are two predictors of coronary artery calcification in asymptomatic patients with familial hypercholesterolemia.

Pathophysiology of Type 2 Diabetes Mellitus

Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia

Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition

Statin Treatment-Induced Development of Type 2 Diabetes: From Clinical Evidence to Mechanistic Insights ⬇️

Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity

Structural changes induced by acidic pH in human apolipoprotein B-100.

The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.

The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes

The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia

miR-27b Modulates Insulin Signaling in Hepatocytes by Regulating Insulin Receptor Expression