Tangier disease. It was discovered that a mutation in the ABCA1 protein is responsible for causing Tangier disease by several groups in 1998. Gerd Schmitz's group in Germany and Michael Hayden's group in British Columbia were using standard genetics techniques and DNA from family pedigrees to loe the mutation. Richard Lawn's group at CV Therapeutics in Palo Alto, CA used cDNA .
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· Rust S, Rosier M, Funke H et al: Tangier disease is caused by mutations in the gene encoding ATPbinding cassette transporter 1. Nat Genet 1999; 22 : .
· The ATPbinding cassette transporter A1 (ABCA1) is involved in the regulation of cholesterol efflux from cells. Mutations in ABCA1 give rise to familial highdensity lipoprotein (HDL) deficiency and Tangier disease, which is characterized by very low levels of HDL in plasma and cholesteryl ester accumulation in tonsils and other reticuloendothelial...
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Human ATPbinding cassette transporter 1 (ABC1): Genomic organization and identifiion of the genetic defect in the original Tangier disease kindred Alan T. Remaley*†, Stephan Rust†‡, Marie Rosier†§, Cathy Knapper*, Laurent Naudin§, Cyril Broccardo¶, Katherine M. Peterson*,
· Patients with genetic mutation of ATPbinding Cassette Transporter A1 (ABCA1), commonly known as Tangier Disease (TD), can be characterized by elevated levels of plasma triglycerides (hypertriglyceridemia) and low plasma highdensity lipoprotein (HDL) levels. With current HDL therapies continuously failing in clinical trials, there is no cure for TD other than maintaining a .
Abstract. CONTEXT: Tangier disease (TD) is a rare autosomal recessive genetic disorder caused by a mutation in the ATP binding cassette transporter (ABCA1) that is characterized by reduced levels of plasma high density lipoproteins (HDL) resulting in tissue acumulation of cholesterol. Clinical features include large and orange tonsils, hepatosplenomegaly, hemolytic anemia, neuropathy, corneal ...
Tangier disease Disease definition A rare, genetic neurometabolic disease characterized biochemically by an almost complete absence of plasma highdensity lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with multifocal peripheral neuropathy, corneal, skin and nail and, occasionally, cardiovascular disease.
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Tangier disease is an autosomal recessive disorder characterized by an abnormal accumulation of cholesterol esters in various organs secondary to adenotriphosphate binding cassette transporter A1 (ABCA1) transporter deficiency and disrupted reverse cholesterol transport.[1,2] First described by Fredrickson in 1960, in two siblings from Tangier Island off the Chesapeake Bay, it is known by ...
· Tangier disease is caused by mutations in the 'ATPBinding Cassette transporter A1' (ABCA1) gene, which encodes the membrane transporter ABCA1. This transporter plays a key role in the first step of reverse cholesterol transport, through which the efflux of free cholesterol from peripheral cells is transferred to lipidpoor apoAI.
· Human ATPbinding cassette transporter 1 (ABC1): genomic organization and identifiion of the genetic defect in the original Tangier disease kindred. Remaley AT(1), Rust S, Rosier M, Knapper C, Naudin L, Broccardo C, Peterson KM, Koch C, Arnould I, Prades C, Duverger N, Funke H, Assman G, Dinger M, Dean M, Chimini G, SantamarinaFojo S, Fredrickson DS, Denefle P, Brewer .
· Tangier disease is caused by mutations in the 'ATPBinding Cassette transporter Al' (ABCA1) gene, which encodes the membrane transporter ABCA1. This transporter plays a key role in the first step of reverse cholesterol transport, through which the efflux of free cholesterol from peripheral cells is transferred to lipidpoor apoAI.
KW ATP Binding Cassette Transporter 1. KW ATPBinding Cassette Transporters. KW Adult. KW Cholesterol, HDL. KW Coronary Artery Disease. KW Humans. KW Male. KW Middle Aged. KW Tangier Disease. M3 Comment/Letter to the editor. C2 . VL 255. SP 299. EP 301. JO Journal of Internal Medicine. JF Journal of ...
· Tangier disease is an inherited condition, first described in two siblings from the Tangier island of ia in the Chesapeake Bay in 1961 and named after the island. There is a significant decrease in HDL, which is also known as the good cholesterol, and accumulation of cholesterol esters in many organs within the body, particularly the reticuloendothelial systems.
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ABC transporter functions are often partially redundant as other ABC and nonABC transporter systems import the same substrates. Many ABC transporters have important effects on pathogen–host interactions, either by improving bacterial growth in nutrientrestricted conditions, wider effects on bacterial physiology, or by reducing sensitivity to host antimicrobial peptides or to antibiotics.
· Tangier disease is an autosomal recessive disorder characterized by an abnormal accumulation of cholesterol esters in various organs secondary to adenotriphosphate binding cassette transporter A1 (ABCA1) transporter deficiency and disrupted reverse cholesterol transport. It causes neuropathy in half of the affected individuals.
· Or, la maladie de Tangier est causée par des mutations dans le gène du transporteur « ATPbinding cassette A1 » (ABCA1). Le modèle actuel stipule que ce transporteur assure la lipidation de l'apolipoprotéine AI (apoAI), la composante protéique majeure des HDL, pour former des particules HDL naissantes discoïdales.
Tangier disease is characterized by two clinical hallmarks: low serum HDL and enlarged lipidladen tonsils that appear orange or yellow. Cyclosporine A is associated with hyperlipidemia due to decreased cholesterol efflux via the ABCA1 transporter leading to the increased risk .
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Rust S, Rosier M, Funke H, Real J, Amoura Z, Piette JC, Deleuze JF, Brewer HB, Duverger N, Denefle P, Assmann G. Tangier disease is caused by mutations in the gene encoding ATPbinding cassette transporter 1.
Aim: Tangier disease (TD), caused by deficiency of ATPbinding cassette transporter A1, is characterized by the absence of high density lipoprotein and the accumulation of cholesteryl esters in many tissues. Recently, it has been reported that ABCA1 is expressed in pancreatic β cells and mice with