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Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features.
Bertolini S, Calandra S, Arca M, Averna M, Catapano AL, Tarugi P; Italian Study Group of Homozygous Familial Hypercholesterolemia. Bertolini S, et al. Among authors: arca m. Atherosclerosis. 2020 Nov;312:72-78. doi: 10.1016/j.atherosclerosis.2020.08.027. Epub 2020 Sep 9. Atherosclerosis. 2020. PMID: 32977124
Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytes.
Sirinian MI, Belleudi F, Campagna F, Ceridono M, Garofalo T, Quagliarini F, Verna R, Calandra S, Bertolini S, Sorice M, Torrisi MR, Arca M. Sirinian MI, et al. Among authors: arca m. J Biol Chem. 2005 Nov 18;280(46):38416-23. doi: 10.1074/jbc.M504343200. Epub 2005 Aug 29. J Biol Chem. 2005. PMID: 16129683 Free article.
Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia.
Filigheddu F, Quagliarini F, Campagna F, Secci T, Degortes S, Zaninello R, Argiolas G, Verna R, Pitzoi S, Frau F, Troffa C, Bulla E, Bertolini S, Glorioso N, Arca M. Filigheddu F, et al. Among authors: arca m. Atherosclerosis. 2009 Nov;207(1):162-7. doi: 10.1016/j.atherosclerosis.2009.04.027. Epub 2009 May 4. Atherosclerosis. 2009. PMID: 19477448
Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization.
Minicocci I, Montali A, Robciuc MR, Quagliarini F, Censi V, Labbadia G, Gabiati C, Pigna G, Sepe ML, Pannozzo F, Lütjohann D, Fazio S, Jauhiainen M, Ehnholm C, Arca M. Minicocci I, et al. Among authors: arca m. J Clin Endocrinol Metab. 2012 Jul;97(7):E1266-75. doi: 10.1210/jc.2012-1298. Epub 2012 Jun 1. J Clin Endocrinol Metab. 2012. PMID: 22659251 Free PMC article.
514 results