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The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9.
Sánchez-Hernández RM, Di Taranto MD, Benito-Vicente A, Uribe KB, Lamiquiz-Moneo I, Larrea-Sebal A, Jebari S, Galicia-Garcia U, Nóvoa FJ, Boronat M, Wägner AM, Civeira F, Martín C, Fortunato G. Sánchez-Hernández RM, et al. Atherosclerosis. 2019 Oct;289:162-172. doi: 10.1016/j.atherosclerosis.2019.08.020. Epub 2019 Aug 30. Atherosclerosis. 2019. PMID: 31518966
LDLR variants functional characterization: Contribution to variant classification.
Alves AC, Azevedo S, Benito-Vicente A, Graça R, Galicia-Garcia U, Barros P, Jordan P, Martin C, Bourbon M. Alves AC, et al. Among authors: galicia garcia u. Atherosclerosis. 2021 Jul;329:14-21. doi: 10.1016/j.atherosclerosis.2021.06.001. Epub 2021 Jun 10. Atherosclerosis. 2021. PMID: 34167030
Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia.
Benito-Vicente A, Uribe KB, Larrea-Sebal A, Palacios L, Cenarro A, Calle X, Galicia-Garcia U, Jebari-Benslaiman S, Sánchez-Hernández RM, Stef M, Lambert G, Civeira F, Martín C. Benito-Vicente A, et al. Among authors: galicia garcia u. Arterioscler Thromb Vasc Biol. 2022 Jul;42(7):e203-e216. doi: 10.1161/ATVBAHA.122.315499. Epub 2022 May 5. Arterioscler Thromb Vasc Biol. 2022. PMID: 35510551
MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants.
Larrea-Sebal A, Benito-Vicente A, Fernandez-Higuero JA, Jebari-Benslaiman S, Galicia-Garcia U, Uribe KB, Cenarro A, Ostolaza H, Civeira F, Arrasate S, González-Díaz H, Martín C. Larrea-Sebal A, et al. Among authors: galicia garcia u. JACC Basic Transl Sci. 2021 Nov 22;6(11):815-827. doi: 10.1016/j.jacbts.2021.08.009. eCollection 2021 Nov. JACC Basic Transl Sci. 2021. PMID: 34869944 Free PMC article.
20 results