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The protein encoded by ABCD1 is a member of the superfamily of ATP-binding cassette (ABC) transporters. Additionally we are shipping ATP-Binding Cassette, Sub-Family D (Ald), Member 1 Antibodies (33) and and many more products for this protein.
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This study showed that the mutations of were detected in SPG11 (show SPG11 ELISA Kits), ATL1 (show ATL1 ELISA Kits), NIPA1 (show NIPA1 ELISA Kits), 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 ELISA Kits) 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 ELISA Kits) had a similar severe phenotype as seen in BCAP31 (show BCAP31 ELISA Kits) 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 ELISA Kits).
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.
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.
during the active myelination phase the microsomal fatty acid elongation activity is stimulated in abcd1-deficient mice
Deletion of AMPKalpha1 (show PRKAA1 ELISA Kits) in the mixed glial cells of Abcd1-KO mice induced spontaneous mitochondrial dysfunction
Abcd2 (show Abcd2 ELISA Kits) 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 ELISA Kits) 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 ELISA Kits) 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