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Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition.
Benito-Vicente A, Uribe KB, Siddiqi H, Jebari S, Galicia-Garcia U, Larrea-Sebal A, Cenarro A, Stef M, Ostolaza H, Civeira F, Palacios L, Martin C. Benito-Vicente A, et al. Among authors: stef m. PLoS One. 2018 Oct 17;13(10):e0204771. doi: 10.1371/journal.pone.0204771. eCollection 2018. PLoS One. 2018. PMID: 30332439 Free PMC article.
The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes.
Cenarro A, Etxebarria A, de Castro-Orós I, Stef M, Bea AM, Palacios L, Mateo-Gallego R, Benito-Vicente A, Ostolaza H, Tejedor T, Martín C, Civeira F. Cenarro A, et al. Among authors: stef m. J Clin Endocrinol Metab. 2016 May;101(5):2113-21. doi: 10.1210/jc.2015-3874. Epub 2016 Mar 25. J Clin Endocrinol Metab. 2016. PMID: 27014949
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: stef m. 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
Molecular characterization of familial hypercholesterolemia in Spain.
Palacios L, Grandoso L, Cuevas N, Olano-Martín E, Martinez A, Tejedor D, Stef M. Palacios L, et al. Among authors: stef m. Atherosclerosis. 2012 Mar;221(1):137-42. doi: 10.1016/j.atherosclerosis.2011.12.021. Epub 2011 Dec 23. Atherosclerosis. 2012. PMID: 22244043
31 results