Results 11 to 20 of about 3,353 (190)
Downregulation of ABCD1 in Human Renal Cell Carcinoma
The International Journal of Biological Markers, 2009 Renal cell carcinoma (RCC) is the most common malignant tumor of the kidney. Delayed diagnosis may result in progression and metastasis. Markers for early detection of RCC are lacking.
Tzyh-Chyuan Hour +8 more
doaj +4 more sources
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling [PDF]
Case Reports in Genetics, 2020 Background. The ATP-binding cassette, subfamily D, member 1 (ABCD1) protein is a peroxisomal half-transporter that allows for very long chain fatty acid (VLCFA) degradation.
John E. Richter Jr. +10 more
doaj +6 more sources
In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy [PDF]
Human Genome VariationAdrenoleukodystrophy (ALD), an X-linked leukodystrophy caused by pathogenic variants in ABCD1, exhibits a broad range of phenotypes from childhood-onset cerebral forms to adult-onset adrenomyeloneuropathy (AMN). We report a rare in-frame ABCD1 deletion c.
Takashi Matsukawa +12 more
doaj +7 more sources
Abcd2 is a strong modifier of the metabolic impairments in peritoneal macrophages of ABCD1-deficient mice. [PDF]
PLoS ONE, 2014 The inherited peroxisomal disorder X-linked adrenoleukodystrophy (X-ALD), associated with neurodegeneration and inflammatory cerebral demyelination, is caused by mutations in the ABCD1 gene encoding the peroxisomal ATP-binding cassette (ABC) transporter ...
Zahid Muneer +5 more
doaj +2 more sources
Genes and Diseases, 2021 Adrenomyeloneuropathy (AMN) is a kind of varied disease caused by ABCD1 gene mutation and characterized by very-long-chain fatty acids (VLCFA) accumulation. It is diagnosed by clinical features, high VLCFAs levels and ABCD1 gene mutation.
Yu Zhang +6 more
doaj +2 more sources
Histone deacetylase inhibitor upregulates peroxisomal fatty acid oxidation and inhibits apoptotic cell death in abcd1-deficient glial cells. [PDF]
PLoS ONE, 2013 In X-ALD, mutation/deletion of ALD gene (ABCD1) and the resultant very long chain fatty acid (VLCFA) derangement has dramatically opposing effects in astrocytes and oligodendrocytes.
Jaspreet Singh +4 more
doaj +4 more sources
Segmental Optic Atrophy with Adrenoleukodystrophy ABCD1 Gene Variant
International Journal of Medical Science and Clinical Research Studies, 2023 We report a case of Adrenoleukodystrophy ABCD1 gene variant presenting with segmental optic atrophy in a 34-year-old male. The patient presented to our Neuro-Ophthalmology clinic with complaints of defective vision in both eyes, mild headache and ...
Khishigdelger Erdenechuluun +3 more
core +4 more sources
Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population
Frontiers in Neurology, 2023 BackgroundAs a rare genetic disease, adrenomyeloneuropathy (AMN) is the most common adult phenotype of X-linked adrenoleukodystrophy (X-ALD). Mutations in the ABCD1 gene have been identified to cause AMN.MethodsWe applied clinical evaluation, laboratory ...
Raoli He +12 more
doaj +3 more sources
iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations
Journal of Proteome Research, 2021 Mapping the network of proteins provides a powerful means to investigate the function of disease genes and to unravel the molecular basis of phenotypes.
Mathias Woidy +27 more
core +7 more sources
Mediators of Inflammation, 2015 X-linked adrenoleukodystrophy (X-ALD) is caused by mutations and/or deletions in the ABCD1 gene. Similar mutations/deletions can give rise to variable phenotypes ranging from mild adrenomyeloneuropathy (AMN) to inflammatory fatal cerebral ...
Jaspreet Singh +2 more
doaj +4 more sources