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Human Polyclonal ABCD1 Primary Antibody for EIA, IHC (p) - ABIN950202
Xie, Ke, Wang, Huang, Lan: [A novel missense mutation resulting in X-linked adrenoleukodystrophy in female heterozygotes of a Chinese family]. in Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2010
Show all 3 references for ABIN950202
Arabidopsis thaliana Polyclonal ABCD1 Primary Antibody for 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 references for ABIN334558
Human Polyclonal ABCD1 Primary Antibody for EIA, WB - ABIN452684
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
ABCD1 and ABCD2 (show Abcd2 Antibodies) 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 (show ABCD3 Antibodies) is involved in the transport of branched chain acyl-CoA (show GNPAT Antibodies) into peroxisomes.ABCD4 is deduced to take part in the transport of vitamin B12 (show NDUFB3 Antibodies) from lysosomes into the cytosol.
This study showed that the mutations of were detected in SPG11 (show SPG11 Antibodies), ATL1 (show ATL1 Antibodies), NIPA1 (show NIPA1 Antibodies), and ABCD1 in patient with hereditary spastic paraplegia.
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 (show BCAP31 Antibodies) 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 (show SLC6A8 Antibodies) had a similar severe phenotype as seen in BCAP31 (show BCAP31 Antibodies) 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 (show DACH2 Antibodies).
As a result of loss of ABCD1, there is pathogenic accumulation of very long chain fatty acids which leads to mitochondrial dysfunction.
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.
during the active myelination phase the microsomal fatty acid elongation activity is stimulated in abcd1-deficient mice
Deletion of AMPKalpha1 (show PRKAA1 Antibodies) in the mixed glial cells of Abcd1-KO mice induced spontaneous mitochondrial dysfunction
Abcd2 (show Abcd2 Antibodies) 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 (show ACOX1 Antibodies) 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
Accumulation of very long-chain fatty acids does not affect mitochindrial function in Abcd1 protein deficiency.
Abcd1 and Abcd2 (show Abcd2 Antibodies) 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 (ALD), member 1
, adrenoleukodystrophy protein
, ATP-binding cassette sub-family D member 1
, ATP-binding cassette sub-family D member 1-like
, ATP-binding cassette, sub-family D, member 1
, X-linked adrenoleukodystrophy (ALD) gene homolog