Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.

[1]  T. Stojkovic,et al.  Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease , 2012, Journal of Neurology.

[2]  Soonkyu Chung,et al.  Hepatic ABCA1 and VLDL triglyceride production. , 2012, Biochimica et biophysica acta.

[3]  I. Iatan,et al.  Genetics of Cholesterol Efflux , 2012, Current Atherosclerosis Reports.

[4]  R. Fresa,et al.  Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia. , 2011, Clinica chimica acta; international journal of clinical chemistry.

[5]  S. Bertolini,et al.  Altered mRNA splicing in lipoprotein disorders , 2011, Current opinion in lipidology.

[6]  K. Hovingh,et al.  UvA-DARE ( Digital Academic Repository ) HDL cholesterol : atherosclerosis and beyond , 2013 .

[7]  E. Schaefer,et al.  Marked HDL deficiency and premature coronary heart disease , 2010, Current opinion in lipidology.

[8]  P. R. Kamstrup Lipoprotein(a) and ischemic heart disease--a causal association? A review. , 2010, Atherosclerosis.

[9]  T. Sampietro,et al.  Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease. , 2010, Clinica chimica acta; international journal of clinical chemistry.

[10]  Soonkyu Chung,et al.  A novel role for ABCA1-generated large pre-β migrating nascent HDL in the regulation of hepatic VLDL triglyceride secretion[S] , 2010, Journal of Lipid Research.

[11]  M. Hayden,et al.  Targeted Deletion of Hepatocyte ABCA1 Leads to Very Low Density Lipoprotein Triglyceride Overproduction and Low Density Lipoprotein Hypercatabolism* , 2010, The Journal of Biological Chemistry.

[12]  R. Frikke-Schmidt Genetic variation in the ABCA1 gene, HDL cholesterol, and risk of ischemic heart disease in the general population. , 2010, Atherosclerosis.

[13]  M. Hayden,et al.  Adenosine-triphosphate-binding cassette transporter-1 trafficking and function. , 2010, Trends in cardiovascular medicine.

[14]  J. Oram,et al.  The cell cholesterol exporter ABCA1 as a protector from cardiovascular disease and diabetes. , 2009, Biochimica et biophysica acta.

[15]  F. Bernini,et al.  Severe HDL deficiency due to novel defects in the ABCA1 transporter , 2009, Journal of internal medicine.

[16]  M. Hayden,et al.  Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis. , 2006, Annual review of nutrition.

[17]  A. Eckardstein Differential diagnosis of familial high density lipoprotein deficiency syndromes. , 2006 .

[18]  J. Heinecke,et al.  ATP-binding cassette transporter A1: a cell cholesterol exporter that protects against cardiovascular disease. , 2005, Physiological reviews.

[19]  G. Franceschini,et al.  The Molecular Basis of Lecithin:Cholesterol Acyltransferase Deficiency Syndromes: A Comprehensive Study of Molecular and Biochemical Findings in 13 Unrelated Italian Families , 2005, Arteriosclerosis, thrombosis, and vascular biology.

[20]  B. Nordestgaard,et al.  Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population. , 2004, The Journal of clinical investigation.

[21]  Jonathan C. Cohen,et al.  Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol , 2004, Science.

[22]  T. Langmann,et al.  Screening for functional sequence variations and mutations in ABCA1. , 2004, Atherosclerosis.

[23]  R. Burgos-Vargas,et al.  Metabolic Syndrome and Ischemic Heart Disease in Gout , 2004, Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases.

[24]  R. Westendorp,et al.  Cardiovascular disease and mortality in statin-treated patients with familial hypercholesterolemia. , 2004, Atherosclerosis.

[25]  E. Mannarino,et al.  Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders. , 2004, Atherosclerosis.

[26]  G. Franceschini,et al.  Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency. , 2003, Atherosclerosis.

[27]  C. Vergani,et al.  Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene Published, JLR Papers in Press, November 4, 2002. DOI 10.1194/jlr.M200248-JLR200 , 2003, Journal of Lipid Research.

[28]  K. Zeller,et al.  Novel ABCA1 compound variant associated with HDL cholesterol deficiency. , 2002, Biochimica et biophysica acta.

[29]  R. Ravazzolo,et al.  A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease. , 2001, Atherosclerosis.

[30]  C. Scriver,et al.  The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.

[31]  M. Hayden,et al.  Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. , 2000, The Journal of clinical investigation.

[32]  L. M. Thurston,et al.  Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds. , 2000, Journal of lipid research.

[33]  G. Aßmann Familial analphalipoproteinemia : Tangier disease , 2001 .