tangier disease

Summary

Summary: An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD.

Top Publications

  1. Kolovou G, Mikhailidis D, Anagnostopoulou K, Daskalopoulou S, Cokkinos D. Tangier disease four decades of research: a reflection of the importance of HDL. Curr Med Chem. 2006;13:771-82 pubmed
    ..Extremely low serum HDL-C levels occur in patients with Tangier disease (TD), which is caused by mutations in the adenosine triphosphate (ATP)-binding cassette transporter A1 (ABCA1)..
  2. Herrmann W, von Mohrenfels C, Lohmann C. Confocal microscopy and corneal sensitivity in a patient with corneal manifestations of Tangier disease. Cornea. 2004;23:825-7 pubmed
    b>Tangier disease is an autosomal recessive disorder in which cholesterol-rich lipids are deposited at various tissues of the body including the cornea...
  3. Lorkowski S, Kratz M, Wenner C, Schmidt R, Weitkamp B, Fobker M, et al. Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease. Biochem Biophys Res Commun. 2001;283:821-30 pubmed
    ..A defect in one member, ABCA1, results in Tangier disease, a condition characterized by cholesterol accumulation in macrophages and virtual absence of mature ..
  4. Huang W, Moriyama K, Koga T, Hua H, Ageta M, Kawabata S, et al. Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. Biochim Biophys Acta. 2001;1537:71-8 pubmed
    ..the ATP-binding cassette transporter 1 (ABCA1) gene have been recently identified as the molecular defect in Tangier disease (TD) and familial high density lipoprotein deficiency (FHA)...
  5. Maekawa M, Kikuchi J, Kotani K, Nagao K, Odgerel T, Ueda K, et al. A novel missense mutation of ABCA1 in transmembrane alpha-helix in a Japanese patient with Tangier disease. Atherosclerosis. 2009;206:216-22 pubmed publisher
    b>Tangier disease (TD) is a hereditary disorder characterized by the severe deficiency or absence of high-density lipoprotein cholesterol (HDL-C)...
  6. Nofer J, Remaley A. Tangier disease: still more questions than answers. Cell Mol Life Sci. 2005;62:2150-60 pubmed
    ..b>Tangier disease is a severe HDL deficiency syndrome characterized by the accumulation of cholesterol in tissue macrophages ..
  7. von Eckardstein A, Huang Y, Kastelein J, Geisel J, Real J, Kuivenhoven J, et al. Lipid-free apolipoprotein (apo) A-I is converted into alpha-migrating high density lipoproteins by lipoprotein-depleted plasma of normolipidemic donors and apo A-I-deficient patients but not of Tangier disease patients. Atherosclerosis. 1998;138:25-34 pubmed
    Plasma of patients with Tangier disease (TD) is devoid of alpha-LpA-I (apolipoprotein A-I-containing lipoprotein), which in normolipidemic plasma constitutes the majority of high density lipoprotein (HDL)...
  8. Oram J. Tangier disease and ABCA1. Biochim Biophys Acta. 2000;1529:321-30 pubmed
    b>Tangier disease is an autosomal recessive genetic disorder characterized by a severe high-density lipoprotein (HDL) deficiency, sterol deposition in tissue macrophages, and prevalent atherosclerosis...
  9. Kim W, Hill A, Fitzgerald M, Freeman M, Evin G, Garner B. Wild type and Tangier disease ABCA1 mutants modulate cellular amyloid-? production independent of cholesterol efflux activity. J Alzheimers Dis. 2011;27:441-52 pubmed publisher
    ..These data suggest that ABCA1 may regulate A?PP processing independent of its impact on membrane lipid homeostasis...

More Information

Publications82

  1. Brousseau M, Schaefer E, Dupuis J, Eustace B, Van Eerdewegh P, Goldkamp A, et al. Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds. J Lipid Res. 2000;41:433-41 pubmed
    b>Tangier disease (TD) is an autosomal co-dominant disorder in which homozygotes have a marked deficiency of high density lipoprotein (HDL) cholesterol and, in some cases, peripheral neuropathy and premature coronary heart disease (CHD)...
  2. Orso E, Broccardo C, Kaminski W, Bottcher A, Liebisch G, Drobnik W, et al. Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice. Nat Genet. 2000;24:192-6 pubmed
    Mutations in the gene encoding ATP-binding cassette transporter 1 ( ABC1) have been reported in Tangier disease (TD), an autosomal recessive disorder that is characterized by almost complete absence of plasma high-density lipoprotein (..
  3. Bocchi L, Pisciotta L, Fasano T, Candini C, Puntoni M, Sampietro T, et al. Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease. Clin Chim Acta. 2010;411:524-30 pubmed publisher
    Mutations in ABCA1 gene are the cause of Tangier disease (TD) and familial high density lipoprotein (HDL) deficiency. Splice site mutations of this gene were reported infrequently.
  4. Bojanovski D, Gregg R, Zech L, Meng M, Bishop C, Ronan R, et al. In vivo metabolism of proapolipoprotein A-I in Tangier disease. J Clin Invest. 1987;80:1742-7 pubmed
    b>Tangier disease is a rare familial disorder characterized by extremely low levels of apolipoprotein A-I (apoA-I) and high density lipoproteins (HDL)...
  5. Oram J. Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1. Trends Mol Med. 2002;8:168-73 pubmed
    ..Mutations in ABCA1 cause Tangier disease, a severe HDL deficiency syndrome characterized by accumulation of cholesterol in tissue macrophages and ..
  6. Schaefer E, Brousseau M, Diffenderfer M, Cohn J, Welty F, O CONNOR J, et al. Cholesterol and apolipoprotein B metabolism in Tangier disease. Atherosclerosis. 2001;159:231-6 pubmed
    b>Tangier disease (TD), caused by mutations in the gene encoding ATP-binding cassette 1 (ABCA1), is a rare genetic disorder in which homozygotes have a marked deficiency of high density lipoproteins (HDL), as well as concentrations of low ..
  7. Cameron J, Ranheim T, Halvorsen B, Kulseth M, Leren T, Berge K. Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C. Atherosclerosis. 2010;209:163-6 pubmed publisher
    ..Inherited low levels of high density lipoprotein (HDL) cholesterol may be due to mutations in the genes encoding the ATP-binding cassette transporter A1 (ABCA1), apolipoprotein (apo) A-I or lecithin:cholesterol acyltransferase (LCAT)...
  8. Koseki M, Matsuyama A, Nakatani K, Inagaki M, Nakaoka H, Kawase R, et al. Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations. J Atheroscler Thromb. 2009;16:292-6 pubmed
    b>Tangier disease (TD), caused by deficiency of ATP-binding cassette transporter A1, is characterized by the absence of high density lipoprotein and the accumulation of cholesteryl esters in many tissues...
  9. Asztalos B, Brousseau M, McNamara J, Horvath K, Roheim P, Schaefer E. Subpopulations of high density lipoproteins in homozygous and heterozygous Tangier disease. Atherosclerosis. 2001;156:217-25 pubmed
    b>Tangier disease (TD) is characterized by severe high-density lipoproteins (HDL) deficiency, hypercatabolism of HDL constituents, impaired cellular cholesterol efflux, and mutations in the gene of ATP-binding cassette 1 (ABC-1)...
  10. Kolovou G, Daskalova D, Anagnostopoulou K, Hoursalas I, Voudris V, Mikhailidis D, et al. Postprandial hypertriglyceridaemia in patients with Tangier disease. J Clin Pathol. 2003;56:937-41 pubmed
    b>Tangier disease (TD) is the phenotypic expression of rare familial syndromes with mutations in the ABCA1 transporter...
  11. Grobusch M, Krüll M, Teichmann D, Göbels K, Suttorp N. Falciparum malaria and Tangier disease. Int J Infect Dis. 2003;7:74-5 pubmed
  12. Rust S, Walter M, Funke H, von Eckardstein A, Cullen P, Kroes H, et al. Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy. Nat Genet. 1998;20:96-8 pubmed
    ..One cause of low HDL-cholesterol is Tangier disease (TD), an autosomal codominant inherited condition first described in 1961 in two siblings on Tangier Island ..
  13. Marcil M, Brooks Wilson A, Clee S, Roomp K, Zhang L, Yu L, et al. Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. Lancet. 1999;354:1341-6 pubmed
    ..We have shown that Tangier disease, a rare and severe form of HDL deficiency characterised by a biochemical defect in cellular cholesterol ..
  14. Brooks Wilson A, Marcil M, Clee S, Zhang L, Roomp K, van Dam M, et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet. 1999;22:336-45 pubmed
    ..Here we have identified two Tangier disease (TD) families, confirmed 9q31 linkage and refined the disease locus to a limited genomic region containing ..
  15. Rust S, Rosier M, Funke H, Real J, Amoura Z, Piette J, et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet. 1999;22:352-5 pubmed
    b>Tangier disease (TD) was first discovered nearly 40 years ago in two siblings living on Tangier Island...
  16. Kolovou G, Wade D, Sengupta R, Cokkinos D. Tangier disease with unusual clinical manifestations. Clin Genet. 2003;63:323-4 pubmed
  17. Uehara Y, Tsuboi Y, Zhang B, Miura S, Baba Y, Higuchi M, et al. POPC/apoA-I discs as a potent lipoprotein modulator in Tangier disease. Atherosclerosis. 2008;197:283-9 pubmed
    b>Tangier disease (TD) is a rare familial disorder with mutations in the ATP-binding cassette transporter A1 (ABCA1) gene. It results in extremely low levels of HDL cholesterol...
  18. Stafforini D, Carter M, Zimmerman G, McIntyre T, Prescott S. Lipoproteins alter the catalytic behavior of the platelet-activating factor acetylhydrolase in human plasma. Proc Natl Acad Sci U S A. 1989;86:2393-7 pubmed
    ..In abetalipoproteinemia, all of the PAF acetylhydrolase activity was in HDL, whereas in Tangier disease all of the activity was in LDL...
  19. Altilia S, Pisciotta L, Garuti R, Tarugi P, Cantafora A, Calabresi L, et al. Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene. J Lipid Res. 2003;44:254-64 pubmed
    Two point mutations of ABCA1 gene were found in a patient with Tangier disease (TD): i) G>C in intron 2 (IVS2 +5G>C) and ii) c.844 C>T in exon 9 (R282X)...
  20. Bodzioch M, Orso E, Klucken J, Langmann T, Bottcher A, Diederich W, et al. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet. 1999;22:347-51 pubmed
    b>Tangier disease (TD) is an autosomal recessive disorder of lipid metabolism...
  21. Kolovou V, Papakonstantinou V, Stamatakis G, Verouti S, Xanthopoulou M, Kolovou G, et al. Platelet activating factor levels and metabolism in Tangier disease: a case study. Lipids Health Dis. 2012;11:89 pubmed publisher
    b>Tangier disease (TD) is a phenotypic expression of rare familial syndrome with mutations in the ABCA1 transporter. The risk of coronary artery disease in patients with TD is variable...
  22. Lawn R, Wade D, Garvin M, Wang X, Schwartz K, Porter J, et al. The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. J Clin Invest. 1999;104:R25-31 pubmed
    The ABC1 transporter was identified as the defect in Tangier disease by a combined strategy of gene expression microarray analysis, genetic mapping, and biochemical studies...
  23. Hayden M, Clee S, Brooks Wilson A, Genest J, Attie A, Kastelein J. Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency. Curr Opin Lipidol. 2000;11:117-22 pubmed
    ..Two genetic disorders, Tangier disease and some cases of familial HDL deficiency, have defects of cellular cholesterol efflux...
  24. Neufeld E, Stonik J, Demosky S, Knapper C, Combs C, Cooney A, et al. The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease. J Biol Chem. 2004;279:15571-8 pubmed
    ..Late endocytic trafficking was defective in Tangier disease fibroblasts that lack functional ABCA1...
  25. Suetani R, Sorrenson B, Tyndall J, Williams M, McCormick S. Homology modeling and functional testing of an ABCA1 mutation causing Tangier disease. Atherosclerosis. 2011;218:404-10 pubmed publisher
    ..To investigate the impact of the p.R1068H mutation on the structure and function of the ATP-binding cassette A1 (ABCA1) protein...
  26. Negi S, Brautbar A, Virani S, Anand A, Polisecki E, Asztalos B, et al. A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease. J Clin Lipidol. 2013;7:82-7 pubmed publisher
    b>Tangier disease is a rare autosomal-recessive disorder caused by mutation in the ATP binding cassette transporter 1 (ABCA1) gene...
  27. Nofer J, Herminghaus G, Brodde M, Morgenstern E, Rust S, Engel T, et al. Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease). J Biol Chem. 2004;279:34032-7 pubmed
    ..ABCA1 defects cause Tangier disease, a disorder characterized by absence of high density lipoprotein and thrombocytopenia...
  28. Guan J, Tamasawa N, Brunham L, Matsui J, Murakami H, Suda T, et al. A case of Tangier disease with a novel mutation in the C-terminal region of ATP-binding cassette transporter A1. Am J Med Genet A. 2004;130A:398-401 pubmed
    b>Tangier disease (TD), a rare disorder characterized by extremely low levels of high density lipoprotein cholesterol (HDL-C), is caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene...
  29. Hooper A, Robertson K, Ng L, Kattampallil J, Latchem D, Willsher P, et al. A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency. Clin Chim Acta. 2009;409:136-9 pubmed publisher
    ..ABCA1 gene defects cause Tangier disease, an autosomal recessive disorder characterised by the absence of HDL-cholesterol in plasma, abnormal ..
  30. Haidar B, Mott S, Boucher B, Lee C, Marcil M, Genest J. Cellular cholesterol efflux is modulated by phospholipid-derived signaling molecules in familial HDL deficiency/Tangier disease fibroblasts. J Lipid Res. 2001;42:249-57 pubmed
    Familial HDL deficiency (FHD) is the heterozygous form of Tangier disease (TD). Mutations of the ABCA1 gene cause FHD and TD...
  31. Remaley A, Rust S, Rosier M, Knapper C, Naudin L, Broccardo C, et al. Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred. Proc Natl Acad Sci U S A. 1999;96:12685-90 pubmed
    b>Tangier disease is characterized by low serum high density lipoproteins and a biochemical defect in the cellular efflux of lipids to high density lipoproteins...
  32. Hirano K, Ikegami C, Zhang Z. Contribution of Cdc42 to cholesterol efflux in fibroblasts from Tangier disease and Werner syndrome. Methods Enzymol. 2008;439:159-69 pubmed publisher
    ..The defect of cholesterol efflux leads to the development of atherosclerosis. Tangier disease (TD), a hereditary high-density lipoprotein deficiency, is characterized by the presence of defective ..
  33. Williamson P, Halleck M, Malowitz J, NG S, Fan X, Krahling S, et al. Transbilayer phospholipid movements in ABCA1-deficient cells. PLoS ONE. 2007;2:e729 pubmed
    b>Tangier disease is an inherited disorder that results in a deficiency in circulating levels of HDL...
  34. Stalenhoef A. Interaction between genes and environment in inherited lipid disorders determines clinical presentation. Cardiovasc Drugs Ther. 2002;16:271-2 pubmed
  35. Gan X, Kaplan R, Menke J, MacNaul K, Chen Y, Sparrow C, et al. Dual mechanisms of ABCA1 regulation by geranylgeranyl pyrophosphate. J Biol Chem. 2001;276:48702-8 pubmed
    ..A1 (ABCA1) mediates an active efflux of cholesterol and phospholipids and is mutated in patients with Tangier disease. Expression of ABCA1 may be increased by certain oxysterols such as 22(R)-hydroxycholesterol via activation ..
  36. Soufi M, Ruppert V, Kurt B, Schaefer J. The impact of severe LDL receptor mutations on SREBP-pathway regulation in homozygous familial hypercholesterolemia (FH). Gene. 2012;499:218-22 pubmed publisher
    Familial hypercholesterolemia (FH), Niemann-Pick disease type C (NPC) and Tangier disease (TD) are genetic inherited disorders with impaired processing of cholesterol, caused by mutations in genes that regulate cellular uptake, ..
  37. Pisciotta L, Calabresi L, Lupattelli G, Siepi D, Mannarino M, Moleri E, et al. Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes. Atherosclerosis. 2005;182:153-9 pubmed
    ..Despite the unfavourable lipoprotein profile, the proband had only mild clinical signs of atherosclerosis. This unexpected finding is probably due to the intensive lipid lowering treatment the patient has been on over the last decade. ..
  38. Kitjaroentham A, Hananantachai H, Tungtrongchitr A, Pooudong S, Tungtrongchitr R. R219K polymorphism of ATP binding cassette transporter A1 related with low HDL in overweight/obese Thai males. Arch Med Res. 2007;38:834-8 pubmed
    ..Mutations of this gene cause wide-ranging HDL deficiency, as evident in Tangier disease and familial hypoalphalipoproteinemia...
  39. Minuz P, Meneguzzi A, Femia E, Fava C, Calabria S, Scavone M, et al. Reduced platelet count, but no major platelet function abnormalities, are associated with loss-of-function ATP-binding cassette-1 gene mutations. Clin Sci (Lond). 2017;131:2095-2107 pubmed publisher
    Loss-of-function mutations of the the ATP-binding cassette-1 (ABCA1) gene are the cause of Tangier disease (TD) in homozygous subjects and familial HDL deficiency (FHD) in heterozygous subjects...
  40. Schmitz G, Langmann T. Structure, function and regulation of the ABC1 gene product. Curr Opin Lipidol. 2001;12:129-40 pubmed
    ..metabolism has been recently documented by mutations in genetic HDL deficiency syndromes such as classical Tangier disease. Analysis of ABCA1 knockout mice and overexpression studies have established the importance of ABCA1 as a ..
  41. Srinivasan S, Li S, Chen W, Boerwinkle E, Berenson G. R219K polymorphism of the ABCA1 gene and its modulation of the variations in serum high-density lipoprotein cholesterol and triglycerides related to age and adiposity in white versus black young adults. The Bogalusa heart study. Metabolism. 2003;52:930-4 pubmed
    ..ATP)-binding cassette transporter 1 (ABCA1) gene have been established as the molecular defect in Tangier disease and familial hypoalphalipoproteinemia, uncommon genetic disorders characterized by deficient or depressed ..
  42. Kim W, Fitzgerald M, Kang K, Okuhira K, Bell S, Manning J, et al. Abca7 null mice retain normal macrophage phosphatidylcholine and cholesterol efflux activity despite alterations in adipose mass and serum cholesterol levels. J Biol Chem. 2005;280:3989-95 pubmed
    ..in the A class of ATP-binding cassette transporters (ABCA) are causally implicated in three human diseases: Tangier disease (ABCA1), Stargadt's macular degeneration (ABCA4), and neonatal respiratory failure (ABCA3)...
  43. Lemmer E. Zebras and bergkwaggas--the case for research on rare and very rare genetic diseases in South Africa. S Afr Med J. 2005;95:814-6 pubmed
  44. Bailey D, Ruel I, Hafiane A, Cochrane H, Iatan I, Jauhiainen M, et al. Analysis of lipid transfer activity between model nascent HDL particles and plasma lipoproteins: implications for current concepts of nascent HDL maturation and genesis. J Lipid Res. 2010;51:785-97 pubmed publisher
    ..The finding that nascent particles were depleted of their lipids and remodeled in the presence of plasma lipoproteins raises questions about their stability and subsequent interaction with LCAT. ..
  45. Yokoyama S. Release of cellular cholesterol: molecular mechanism for cholesterol homeostasis in cells and in the body. Biochim Biophys Acta. 2000;1529:231-44 pubmed
    ..The impairment of the apolipoprotein-mediated reaction was found in Tangier disease and other familial HDL deficiencies to strongly suggest that this is a main mechanism to produce plasma HDL...
  46. Mahley R, Can S, Ozbayrakçi S, Bersot T, Tanir S, Palaoğlu K, et al. Modulation of high-density lipoproteins in a population in istanbul, Turkey, with low levels of high-density lipoproteins. Am J Cardiol. 2005;96:547-55 pubmed
    ..Why education failed to affect the HDL cholesterol levels in Turkish men remains unclear. ..
  47. Wang N, Tall A. Regulation and mechanisms of ATP-binding cassette transporter A1-mediated cellular cholesterol efflux. Arterioscler Thromb Vasc Biol. 2003;23:1178-84 pubmed
    ..This and other evidence suggest that ABCA1 promotes cholesterol and phospholipid efflux, probably by directly transporting both lipids as substrates...
  48. Sampietro T, Bigazzi F, Dal Pino B, Rossi G, Chella E, Lusso S, et al. Up regulation of C3, C4, and soluble intercellular adhesion molecule-1 co-expresses with high sensitivity C reactive protein in familial hypoalphalipoproteinaemia: further evidence of inflammatory activation. Heart. 2004;90:1438-42 pubmed
    ..The lack of signs and symptoms of inflammation in these patients may suggest that the immune response is up regulated as part of the pro-inflammatory mechanisms that are activated in this atherogenic condition. ..
  49. Aiello R, Brees D, Francone O. ABCA1-deficient mice: insights into the role of monocyte lipid efflux in HDL formation and inflammation. Arterioscler Thromb Vasc Biol. 2003;23:972-80 pubmed
    ..The phenotype of the ABCA1-deficient mouse parallels the phenotype observed in human Tangier disease, including substantial reductions in both apolipoprotein B and apolipoprotein AI with confounding affects on ..
  50. Hovingh G, Van Wijland M, Brownlie A, Bisoendial R, Hayden M, Kastelein J, et al. The role of the ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia. J Lipid Res. 2003;44:1251-5 pubmed
  51. Tamasawa N. [Disorder of cholesterol metabolism: regulation of intracellular cholesterol and membrane trafficking]. Rinsho Byori. 2010;58:1203-10 pubmed
    ..We demonstrated that Tangier disease and Niemann-Pick disease type B and type C are metabolic disorders of membrane cholesterol...
  52. Puntoni M, Bigazzi F, Sbrana F, Pennato B, Sampietro T. [Heart without HDL.Tangier disease]. Recenti Prog Med. 2009;100:180-3 pubmed
    ..The patient was diagnosed with Tangier disease on the basis of the pathognomonic triad of the disease: HDL deficiency, low plasma cholesterol concentration ..
  53. Tarugi P, Lonardo A, Gabelli C, Sala F, Ballarini G, Cortella I, et al. Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene. J Lipid Res. 2001;42:1552-61 pubmed
  54. Sinha S, Mahadevan A, Lokesh L, Ashraf V, Chandrasekhar Sagar B, Taly A, et al. Tangier disease--a diagnostic challenge in countries endemic for leprosy. J Neurol Neurosurg Psychiatry. 2004;75:301-4 pubmed
    A case of Tangier disease (TD) is reported from India. The patient had presented with indolent mononeuritis multiplex and trophic ulcers of 16 years duration mimicking Hansen's disease...
  55. Espinel J, Suarez P, Olcoz J, Izquierdo F. Gastric mucosa appearance in a patient with Tangier disease. Rev Esp Enferm Dig. 2006;98:786-7 pubmed
  56. Puntoni M, Bigazzi F, Sabatino L, Sbrana F, Musio A, Dal Pino B, et al. Early senescence in heterozygous ABCA1 mutation skin fibroblasts: a gene dosage effect beyond HDL deficiency?. Biochem Biophys Res Commun. 2014;447:231-6 pubmed publisher
    Homozygous ABCA1 gene mutation causes Tangier disease (TD). The effects reported in heterozygous state regard plasma HDL, cell cholesterol efflux and coronary artery disease...
  57. Hovingh G, de Groot E, van der Steeg W, Boekholdt S, Hutten B, Kuivenhoven J, et al. Inherited disorders of HDL metabolism and atherosclerosis. Curr Opin Lipidol. 2005;16:139-45 pubmed
    ..Ultrasound imaging of carotid arteries has provided a tool to assess the risk in hereditary hypo and hyperalphalipoproteinemia. This review gives a comprehensive summary...
  58. Oram J, Vaughan A, Stocker R. ATP-binding cassette transporter A1 mediates cellular secretion of alpha-tocopherol. J Biol Chem. 2001;276:39898-902 pubmed
    ..ApoA-I lacked the ability to remove alpha-TOH from Tangier disease fibroblasts that have a nonfunctional ABCA1...
  59. Sorrenson B, Suetani R, Bickley V, George P, Williams M, Scott R, et al. An ABCA1 truncation shows no dominant negative effect in a familial hypoalphalipoproteinemia pedigree with three ABCA1 mutations. Biochem Biophys Res Commun. 2011;409:400-5 pubmed publisher
    ..There was no evidence of a dominant negative effect on wildtype or p.N1800H protein levels. We conclude that in the case of the p.C978fsX988 truncated mutant a lack of expression precludes it from having a dominant negative effect...
  60. Walter M, Forsyth N, Wright W, Shay J, Roth M. The establishment of telomerase-immortalized Tangier disease cell lines indicates the existence of an apolipoprotein A-I-inducible but ABCA1-independent cholesterol efflux pathway. J Biol Chem. 2004;279:20866-73 pubmed
    b>Tangier disease (TD) is a human genetic disorder associated with defective apolipoprotein-I-induced lipid efflux and increased atherosclerotic susceptibility. It has been linked to mutations in the ATP-binding cassette protein A1 (ABCA1)...
  61. Pichit P, Quillard M, Couvert P, Senant J, Carrie A, Bittar R, et al. Tangier disease phenotype diversity in dizygous twin sisters. Rev Neurol (Paris). 2010;166:534-7 pubmed publisher
    b>Tangier disease (TD) is a rare autosomal recessive disorder characterized by a deficiency or absence of high-density lipoprotein (HDL) caused by mutations in the adenotriphosphate-binding cassette transporter-1 gene (ABCA1)...
  62. Hong S, Rhyne J, Zeller K, Miller M. ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. Atherosclerosis. 2002;164:245-50 pubmed
    ..Recent studies have implicated mutations in ABCA1 as the cause of Tangier disease (TD) and familial hypoalphalipoproteinemia (FHA)...
  63. Haidar B, Denis M, Krimbou L, Marcil M, Genest J. cAMP induces ABCA1 phosphorylation activity and promotes cholesterol efflux from fibroblasts. J Lipid Res. 2002;43:2087-94 pubmed
    ..activity, fibroblasts from subjects with familial HDL deficiency (FHD, heterozygous ABCA1 defect) and Tangier disease (TD, homozygous/compound heterozygous ABCA1 defect) were treated with 8-Br-cAMP or forskolin...
  64. Matsuura F, Hirano K, Ikegami C, Sandoval J, Oku H, Yuasa Kawase M, et al. Senescent phenotypes of skin fibroblasts from patients with Tangier disease. Biochem Biophys Res Commun. 2007;357:493-8 pubmed
    b>Tangier disease (TD) is characterized by a deficiency of high density lipoprotein (HDL) in plasma and patients with TD have an increased risk for coronary artery disease (CAD)...
  65. Oram J. ATP-binding cassette transporter A1 and cholesterol trafficking. Curr Opin Lipidol. 2002;13:373-81 pubmed
    ..The present review summarizes the more recent of those studies and evaluates their implications for the role of ABCA1 in cholesterol transport, HDL metabolism, and atherogenesis...
  66. Sampietro T, Bigazzi F, Dal Pino B, Fusaro S, Greco F, Tuoni M, et al. Increased plasma C-reactive protein in familial hypoalphalipoproteinemia: a proinflammatory condition?. Circulation. 2002;105:11-4 pubmed
    ..Our study investigated whether familial hypoalphalipoproteinemia, a genetic form of dyslipidemia characterized by very low HDL levels, might be associated with increased inflammation markers such as C-reactive protein...
  67. Rigot V, Hamon Y, Chambenoit O, Alibert M, Duverger N, Chimini G. Distinct sites on ABCA1 control distinct steps required for cellular release of phospholipids. J Lipid Res. 2002;43:2077-86 pubmed
  68. Probst M, Thumann H, Aslanidis C, Langmann T, Buechler C, Patsch W, et al. Screening for functional sequence variations and mutations in ABCA1. Atherosclerosis. 2004;175:269-79 pubmed
    ..Several mutations have been identified so far as responsible either for Tangier disease or for reduced HDL levels...
  69. Stonik J, Remaley A, Demosky S, Neufeld E, Bocharov A, Brewer H. Serum amyloid A promotes ABCA1-dependent and ABCA1-independent lipid efflux from cells. Biochem Biophys Res Commun. 2004;321:936-41 pubmed
    ..Furthermore, SAA effluxed cholesterol from Tangier disease fibroblasts and from cells after inhibition of ABCA1 by fixation with paraformaldehyde...
  70. Oram J. Novel approaches to treating cardiovascular disease: lessons from Tangier disease. Expert Opin Investig Drugs. 2001;10:427-38 pubmed
    ..Mutations in ABCA1 cause Tangier disease, a severe HDL deficiency syndrome characterised by accumulation of cholesterol in tissue macrophages and ..
  71. Fasano T, Bocchi L, Pisciotta L, Bertolini S, Calandra S. Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency. J Lipid Res. 2005;46:817-22 pubmed
    ..No variants were detected in amplicons with a homoduplex profile. DHPLC is a sensitive and reliable method for the detection of ABCA1 gene mutations...
  72. Quazi F, Molday R. Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. J Biol Chem. 2013;288:34414-26 pubmed publisher
    ..Mutations in ABCA1 cause Tangier disease characterized by defective cholesterol homeostasis and high density lipoprotein (HDL) deficiency...
  73. James R, Blatter Garin M, Calabresi L, Miccoli R, von Eckardstein A, Tilly Kiesi M, et al. Modulated serum activities and concentrations of paraoxonase in high density lipoprotein deficiency states. Atherosclerosis. 1998;139:77-82 pubmed
    ..It implies that certain HDL-associated anti-atherogenic processes may not be entirely compromised by HDL deficiency. This has important implications for the cardiovascular risk associated with modulated HDL concentrations...