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Arabidopsis thaliana Polyclonal ABCD1 Primary Antibody für WB - ABIN334558
Sun, Suen, Zhang, Liang, Carrie, Whelan, Ward, Hawkins, Jiang, Lim: A dual-targeted purple acid phosphatase in Arabidopsis thaliana moderates carbon metabolism and its overexpression leads to faster plant growth and higher seed yield. in The New phytologist 2012
Show all 2 Pubmed References
Human Polyclonal ABCD1 Primary Antibody für ELISA - ABIN548123
Höftberger, Kunze, Weinhofer, Aboul-Enein, Voigtländer, Oezen, Amann, Bernheimer, Budka, Berger: Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: implications for X-linked adrenoleukodystrophy. in Neurobiology of disease 2007
Human Monoclonal ABCD1 Primary Antibody für IHC, WB - ABIN2715622
Musolino, Gong, Snyder, Jimenez, Lok, Lo, Moser, Grabowski, Frosch, Eichler: Brain endothelial dysfunction in cerebral adrenoleukodystrophy. in Brain : a journal of neurology 2015
a novel heterozygous mutation IVS4+2T>A (c.1393+2T>A) of the ABCD1 gene are associated with different clinical phenotypes in a family with adrenoleukodystrophy.
Expression of human ABCD1 in oligodendrocytes rescued apoptosis in the abcd1 mutant.
In X-linked adrenoleukodystrophy, lack of ABCD1 function causes increased capillary flow heterogeneity in asymptomatic hemizygotes predominantly in the white matter regions and developmental stages with the highest probability for conversion to cerebral disease.
To assist in the evaluation process, the New York Newborn Screening Program also routinely performs Sanger sequencing to determine if there are mutations in the ABCD1 gene.
ABCD1 and ABCD2 are involved in the transport of long and very long chain fatty acids (VLCFA) or their CoA-derivatives into peroxisomes with different substrate specificities, while ABCD3 is involved in the transport of branched chain acyl-CoA into peroxisomes.ABCD4 is deduced to take part in the transport of vitamin B12 from lysosomes into the cytosol.
This study showed that the mutations of were detected in SPG11, ATL1, NIPA1, and ABCD1 in patient with hereditary spastic paraplegia.
Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation
CCALD is the most common phenotype (64%) in our Chinese patients with X-ALD. Eight novel mutations in the ABCD1 gene identified are disease-causing mutations.
The current study demonstrates that a single splicing mutation affects the ABCD1 transcripts and the ALDP protein function.
both BCAP31 and ABCD1 were associated with hepatic cholestasis and death before 1 year. Remarkably, a patient with an isolated deletion at the 3'-end of SLC6A8 had a similar severe phenotype as seen in BCAP31 deficiency
Exome sequencing in two brothers with distinct phenotype including congenital language disorder, growth retardation, intellectual disability and urinary and fecal incontinence, identifies missense mutations in ABCD1 and DACH2.
As a result of loss of ABCD1, there is pathogenic accumulation of very long chain fatty acids which leads to mitochondrial dysfunction.
In the titel.
We detected the same mutation of the ABCD1 gene in two unrelated patients with X-linked adrenoleukodystrophy.
We describe four unrelated women with a late-onset progressive spastic paraparesis and heterozygous mutations in the ABCD1 gene
X-inactivation pattern of the ABCD1 gene is associated with symptomatic status in female X-linked adrenoleukodystrophy carriers.
This study unveil unequivocally that cryptic splicing-induced aberrant messenger-RNA carrying an internal frameshift deletion results from an intronic mutation in the ABCD1 gene.
Array comparative genomic hybridization analysis suggested that the deletion was a genomic rearrangement in the 90-kb span starting in exon 4 and included ABCD1
Identified 8 mutationsof ABCD1 , including one novel deletion (c.1477_1488+11del23) and 7 known mutations.
in contrast to yeast cells, very long-chain acyl-CoA esters are transported into peroxisomes by ABCD1 independently of additional synthetase activity
ABCD1 and its homolog ABCD2 exist mainly as homotetramers in the peroxisomal membrane
during the active myelination phase the microsomal fatty acid elongation activity is stimulated in abcd1-deficient mice
Deletion of AMPKalpha1 in the mixed glial cells of Abcd1-KO mice induced spontaneous mitochondrial dysfunction
Abcd2 is a strong modifier of the metabolic impairments in peritoneal macrophages of ABCD1-deficient mice
Data indicate that astrocytes from adrenoleukodystrophy protein Abcd1-/- mice respond sensitively to long-term very-long-chain fatty acids (VLCFA) treatment.
Our data support a link between oxidative stress and the deficiency of Abcd1 or Acox1 peroxisomal proteins.
Study demonstrates that oxidative damage to proteins specifically affects five key enzymes of glycolysis and TCA (Tricarboxylic acid) cycle in spinal cords of Abcd1(-) mice.
ALDP facilitates the interaction between peroxisomes and mitochondria, resulting, when ALDP is deficient in X-ALD, in increased VLCFA accumulation
characterization of the quaternary structure and identification as a homomeric protein
Accumulation of very long-chain fatty acids does not affect mitochindrial function in Abcd1 protein deficiency.
Abcd1 and Abcd2 gene silencing sensitizes astrocytes for inflammation and may have a role in X-adrenoleukodystrophy
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system.
ATP-binding cassette sub-family D member 1
, adrenoleukodystrophy protein
, ATP-binding cassette, sub-family D (ALD), member 1
, ATP-binding cassette, sub-family D, member 1
, X-linked adrenoleukodystrophy (ALD) gene homolog
, ATP-binding cassette sub-family D member 1-like