A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene

Garcia, 2001, Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein, Science, 292, 1394, 10.1126/science.1060458 He, 2002, ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2, J Biol Chem, 277, 44044, 10.1074/jbc.M208539200 Mishra, 2002, The autosomal recessive hypercholesterolemia(ARH) protein interfaces directly with the clathrin-coat machinery, Proc Natl Acad Sci U S A, 99, 16099, 10.1073/pnas.252630799 Chen, 1990, NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor, J Biol Chem, 265, 3116, 10.1016/S0021-9258(19)39742-X Michaely, 2004, The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits, J Biol Chem, 279, 34023, 10.1074/jbc.M405242200 Soutar, 2003, Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolemia, Arterioscler Thromb Vasc Biol, 23, 1963, 10.1161/01.ATV.0000094410.66558.9A Arca, 2002, Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis, Lancet, 359, 841, 10.1016/S0140-6736(02)07955-2 Sniderman, 2014, The severe hypercholesterolemia phenotype: clinical diagnosis, management, and emerging therapies, J Am Coll Cardiol, 63, 1935, 10.1016/j.jacc.2014.01.060 Filigheddu, 2009, Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia, Atherosclerosis, 207, 162, 10.1016/j.atherosclerosis.2009.04.027 Vrablík, 2017, Familial hypercholesterolemia in the Czech Republic: more than 17 years of systematic screening within the MedPed project, Physiol Res, 66, S1, 10.33549/physiolres.933600 Miller, 1988, A simple salting out procedure for extracting DNA from human nucleated cells, Nucleic Acids Res, 16, 1215, 10.1093/nar/16.3.1215 Pisciotta, 2006, Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison, Atherosclerosis, 188, 398, 10.1016/j.atherosclerosis.2005.11.016 Muntoni, 2015, Pharmacological treatment of a Sardinian patient affected by Autosomal recessive hypercholesterolemia (ARH), J Clin Lipidol, 9, 103, 10.1016/j.jacl.2014.08.009 Spina, 2018, Genetic epidemiology of Autosomal recessive hypercholesterolemia in Sicily: identification by next-generation sequencing of a new kindred, J Clin Lipidol, 12, 145, 10.1016/j.jacl.2017.10.014 D'Erasmo, 2018, Autosomal recessive hypercholesterolemia: long-term cardiovascular outcomes, J Am Coll Cardiol, 71, 279, 10.1016/j.jacc.2017.11.028 Fahy, 2017, A case of Autosomal recessive hypercholesterolemia responsive to proprotein invertase subtilisin/kexin 9 inhibition, J Clin Lipidol, 11, 287, 10.1016/j.jacl.2016.10.002 Soufi, 2013, A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia, Gene, 521, 200, 10.1016/j.gene.2013.03.034 Thompson, 2015, Improved cardiovascular outcomes following temporal advances in lipid-lowering therapy in a genetically-characterised cohort of familial hypercholesterolaemia homozygotes, Atherosclerosis, 243, 328, 10.1016/j.atherosclerosis.2015.09.029 Alonso, 2014, Lipoprotein(a) levels in familial hypercholesterolemia: an important predictor of cardiovascular disease independent of the type of LDL receptor mutation, J Am Coll Cardiol, 63, 1982, 10.1016/j.jacc.2014.01.063 Ushioda, 2006, Serum lipoprotein(a) dynamics before/after menopause and long-term effects of hormone replacement therapy on lipoprotein(a) levels in middle-aged and older Japanese women, Horm Metab Res, 38, 581, 10.1055/s-2006-950504 Gidding, 2015, The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association, Circulation, 132, 2167, 10.1161/CIR.0000000000000297 Tada, 2012, Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in Autosomal recessive hypercholesterolemia: results from stable isotope kinetic study in vivo, Circ Cardiovasc Genet, 5, 35, 10.1161/CIRCGENETICS.111.960948 Raal, 2017, Long-term treatment with evolocumab added to conventional drug therapy, with or without apheresis, in patients with homozygous familial hypercholesterolaemia: an interim subset analysis of the open-label TAUSSIG study, Lancet Diabetes Endocrinol, 5, 280, 10.1016/S2213-8587(17)30044-X Hartgers, 2018, Alirocumab efficacy in patiens with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia, J Clin Lipidol, 12, 390, 10.1016/j.jacl.2017.12.008 Priest, 2016, Standards of evidence and mechanistic inference in Autosomal recessive hypercholesterolemia, Arterioscler Thromb Vasc Biol, 36, 1465, 10.1161/ATVBAHA.116.307714