The genetics of ATP-binding cassette transporters (Q45108337)

9 December 2017

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title

The genetics of ATP-binding cassette transporters (English)

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9 December 2017

1

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9 December 2017

language of work or name

English

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publication date

1 January 2005

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9 December 2017

published in

Methods in Enzymology

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9 December 2017

volume

400

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9 December 2017

page(s)

409-429

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Simple and complex ABCR: genetic predisposition to retinal disease

9 December 2017

cites work

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7 January 2021

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)

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https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Identification of 315 genes essential for early zebrafish development

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https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Cystic fibrosis patients from the black sea region: The 1677delTA mutation

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https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Mutations in ABCC6 cause pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

A family of drug transporters: the multidrug resistance-associated proteins.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

ABC transporters in lipid transport

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Structure of MsbA from Vibrio cholera: a multidrug resistance ABC transporter homolog in a closed conformation

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

RETRACTED: Structure of MsbA from E. coli: a homolog of the multidrug resistance ATP binding cassette (ABC) transporters

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

A functionally defective allele of TAP1 results in loss of MHC class I antigen presentation in a human lung cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Evolution of ATP-binding cassette transporter genes

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Evolution of the ATP-binding cassette (ABC) transporter superfamily in vertebrates

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

The human ATP-binding cassette (ABC) transporter superfamily

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

The essential ATP-binding cassette protein RLI1 functions in translation by promoting preinitiation complex assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Genetic defects in hepatobiliary transport.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Development of a PCR-based diagnostic test detecting a nt230(del4) MDR1 mutation in dogs: verification in a moxidectin-sensitive Australian Shepherd

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Multidrug resistance in cancer: role of ATP-dependent transporters

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Hepatobiliary cholesterol transport is not impaired in Abca1-null mice lacking HDL

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

ABC Transporters: From Microorganisms to Man

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Adrenomyeloneuropathy-report on a family

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Structural model of ATP-binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

The ATP binding cassette transporter A1 (ABCA1) modulates the development of aortic atherosclerosis in C57BL/6 and apoE-knockout mice

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Effect of mutated transporters associated with antigen-processing 2 on characteristic major histocompatibility complex binding peptides: analysis using electrospray ionization tandem mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Association of a new allele of the TAP2 gene, TAP2*Bky2 (Val577), with susceptibility to Sjögren's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Structure and mechanism of ABC transporters

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

The E. coli BtuCD structure: a framework for ABC transporter architecture and mechanism

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Mutations in the ABC 1 gene in familial HDL deficiency with defective cholesterol efflux

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

High density lipoprotein deficiency and foam cell accumulation in mice with targeted disruption of ATP-binding cassette transporter-1

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

ABC1, the mammalian homologue of the engulfment gene ced-7, is required during phagocytosis of both necrotic and apoptotic cells

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Iron trafficking in the mitochondrion: novel pathways revealed by disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Breed distribution and history of canine mdr1-1Delta, a pharmacogenetic mutation that marks the emergence of breeds from the collie lineage

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Genetic mechanisms of surfactant deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Salmonella typhi uses CFTR to enter intestinal epithelial cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Very long chain fatty acids in X-linked adrenoleukodystrophy brain after treatment with Lorenzo's oil.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Hypercatabolism of lipoprotein-free apolipoprotein A-I in HDL-deficient mutant chickens

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

ABCA3 gene mutations in newborns with fatal surfactant deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Increased ABCA1 activity protects against atherosclerosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

A case of primary immunodeficiency due to a defect of the major histocompatibility gene complex class I processing and presentation pathway

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

The C. elegans cell corpse engulfment gene ced-7 encodes a protein similar to ABC transporters.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Very-long-chain fatty acid metabolism in adrenoleukodystrophy protein-deficient mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

A single-nucleotide deletion leads to rapid degradation of TAP-1 mRNA in a melanoma cell line.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

Atp-binding cassette transporter ABC2/ABCA2 in the rat brain: a novel mammalian lysosome-associated membrane protein and a specific marker for oligodendrocytes but not for myelin sheaths.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900024-8

7 January 2021

10.1016/S0076-6879(05)00024-8

Identifiers

DOI

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9 December 2017

1 reference