Marianne A. Stef

Derio, PV, Spain

Last Updated: 09/26/2026

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Found 10 publications

Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia.

Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia.

Journal: Arteriosclerosis, thrombosis, and vascular biology

Published: May 05, 2022

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

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

Journal: PloS one

Published: July 12, 2018

p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro.

p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro.

Journal: Scientific reports

Published: May 23, 2018

Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.

Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.

Journal: Circulation. Cardiovascular genetics

Published: May 10, 2016

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

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

Journal: The Journal of clinical endocrinology and metabolism

Published: March 26, 2016

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

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

Journal: Atherosclerosis

Published: July 23, 2014

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

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

Journal: Human mutation

Published: June 20, 2014

Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.

Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.

Journal: Journal of internal medicine

Published: May 03, 2014

A DNA microarray for the detection of point mutations and copy number variation causing familial hypercholesterolemia in Europe.

A DNA microarray for the detection of point mutations and copy number variation causing familial hypercholesterolemia in Europe.

Journal: The Journal of molecular diagnostics : JMD

Published: January 05, 2012

Molecular characterization of familial hypercholesterolemia in Spain.

Molecular characterization of familial hypercholesterolemia in Spain.

Journal: Atherosclerosis

Published: November 03, 2011

Showing 1-10 of 10

Last Updated: 09/26/2026