Kepa B. Uribe

Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity

Poulabi Banerjee, Kuo‐Chen Chan, Michel Tarabocchia et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2019 · 96 citations · Full text

Life Sciences, Immunology, Pharmacology +17

Site-specific O-glycosylation of members of the low-density lipoprotein receptor superfamily enhances ligand interactions

Shengjun Wang, Yang Mao, Yoshiki Narimatsu et al. · Journal of Biological Chemistry · 2018 · 82 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Functional characterization of splicing and ligand-binding domain variants in the LDL receptor

Aitor Etxebarria, Lourdes Palacios, Marianne Stef et al. · Human Mutation · 2011 · 47 citations

Medicine, Genetics, Molecular Genetics +17

Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia

Maria Donata Di Taranto, Asier Benito‐Vicente, Carola Giacobbe et al. · Scientific Reports · 2017 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Unai Galicia-García, Asier Benito‐Vicente, Kepa B. Uribe et al. · Scientific Reports · 2020 · 42 citations · Full text

Life Sciences, Genetics, Molecular Biology +17