Loss-of-function mutation of PCSK9 as a protective factor in the clinical expression of familial hypercholesterolemia-Reference-Cited by-同舟云学术

Loss-of-function mutation of PCSK9 as a protective factor in the clinical expression of familial hypercholesterolemia

Published:2020-08-21 Issue:34 Volume:99 Page:e21754
ISSN:0025-7974
Container-title:Medicine
language:en
Short-container-title:

Author:

Bayona Ane,Arrieta Francisco,Rodríguez-Jiménez Carmen,Cerrato Francisco,Rodríguez-Nóvoa Sonia,Fernández-Lucas Milagros,Gómez-Coronado Diego,Mata Pedro

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference10 articles.

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2. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia;Abifadel;Nat Genet,2003

3. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease;Cohen;N Engl J Med,2006

4. Efficacy and safety of evolocumab (AMG 145), a fully human monoclonal antibody to PCSK9, in hyperlipidaemic patients on various background lipid therapies: pooled analysis of 1359 patients in four phase 2 trials;Stein;Eur Heart J,2014

5. A new variant (c.1A>G) in LDLRAP1 causing autosomal recessive hypercholesterolemia: Characterization of the defect and response to PCSK9 inhibition;Rodríguez-Jiménez;Atherosclerosis,2019

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3. Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis;Frontiers in Physiology;2023-07-04

4. A Review of Progress on Targeting LDL Receptor-Dependent and -Independent Pathways for the Treatment of Hypercholesterolemia, a Major Risk Factor of ASCVD;Cells;2023-06-16

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