The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease (Q28141040)

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E Orsó

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J Klucken

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T Langmann

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A Böttcher

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W Diederich

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W Drobnik

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S Barlage

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C Büchler

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M Porsch-Ozcürümez

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W E Kaminski

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H W Hahmann

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K Oette

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G Rothe

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C Aslanidis

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K J Lackner

Tangier disease: a disorder of intracellular membrane traffic

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language of work or name

English

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publication date

August 1999

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published in

Nature Genetics

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volume

22

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issue

4

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page(s)

347-51

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cites work

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7 January 2021

Abnormal processing of Golgi elements and lysosomes in Tangier disease

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7 January 2021

HDL-mediated efflux of intracellular cholesterol is impaired in fibroblasts from Tangier disease patients

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7 January 2021

Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier Disease

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7 January 2021

Dysregulation of lipid metabolism in Tangier monocyte-derived macrophages

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Growth and cell cycle abnormalities of fibroblasts from Tangier disease patients

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Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy

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Cloning of two novel ABC transporters mapping on human chromosome 9

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Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages.

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ABC Transporters: From Microorganisms to Man

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Flip-flop: the transmembrane translocation of lipids

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MDR1 P-glycoprotein is a lipid translocase of broad specificity, while MDR3 P-glycoprotein specifically translocates phosphatidylcholine

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Transbilayer movement of NBD-labeled phospholipids in red blood cell membranes: outward-directed transport by the multidrug resistance protein 1 (MRP1)

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Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

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Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database

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7 January 2021

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

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7 January 2021

The lipoprotein abnormality in Tangier disease: quantitation of A apoproteins

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7 January 2021

Severe polyneuropathy in Tangier disease mimicking syringomyelia or leprosy. Clinical, biochemical, electrophysiological, and morphological evaluation, including electron microscopy of nerve, muscle, and skin biopsies

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7 January 2021

Walker mutations reveal loose relationship between catalytic and channel-gating activities of purified CFTR (cystic fibrosis transmembrane conductance regulator)

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7 January 2021

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

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7 January 2021

The ATP binding cassette transporter ABC1, is required for the engulfment of corpses generated by apoptotic cell death.

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Identification of scavenger receptor SR-BI as a high density lipoprotein receptor

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Scavenger receptor class B type I as a mediator of cellular cholesterol efflux to lipoproteins and phospholipid acceptors

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7 January 2021