Results 101 to 110 of about 2,524,227 (174)
ABCD1 Gene Therapy for X-linked Adrenoleukodystrophy Dementia
ABCD1 scores 0.88 in Open Targets and maps to peroxisome pathway (KEGG: hsa04146) and ABC transporters (hsa02010). ClinVar shows multiple ABCD1 variants. Gene therapy could restore peroxisomal function and prevent demyelination-associated cognitive decline in X-ALD.
openaire +1 more source
Gene Therapy for Allergic Diseases
, 2010 Allergic diseases, such as allergic asthma, allergic rhinitis, atopic dermatitis, conjunctivitis, urticaria, food allergy, and/or anaphylaxis, are associated with the skewing of immune responses towards a T helper 2 ( TH2) phenotype, resulting in ...
莊雅惠;楊曜旭;江伯倫 +1 more
core +1 more source
Biochemical studies in fibroblasts to interpret variants of unknown significance in the abcd1 gene
, 2021 Due to newborn screening for X-linked adrenoleukodystrophy (ALD), and the use of exome sequencing in clinical practice, the detection of variants of unknown significance (VUS) in the ABCD1 gene is increasing. In these cases, functional tests in fibroblasts may help to classify a variant as (likely) benign or pathogenic. We sought to establish reference
van de Stadt,Stephanie I.W. +18 more
openaire +1 more source
Possibly early lethal phenotype in Abcd1;CMV-ELOVL1 mice.
, 2016 (A) Distribution of the actual F1 genotypes of 4 independent crosses between Abcd1 knockout females (Abcd1-/-) with males heterozygous for the activated ELOVL1 transgene (CMV-ELOVL1+/-). Males are in blue and females in pink.
Dalia Goldhaber-Pasillas (2636161) +12 more
core +1 more source
Easily misdiagnosed X-linked adrenoleukodystrophy
Italian Journal of PediatricsBackground Addison’s disease and X-linked adrenoleukodystrophy (X-ALD) (Addison’s-only) are two diseases that need to be identified. Addison’s disease is easy to diagnose clinically when only skin and mucosal pigmentation symptoms are present. However, X-
Qiu-Hong Wang +10 more
doaj +1 more source
, 2014 The rates of β-oxidation for radiolabelled C26∶0 and C16∶0 fatty acid substrates were measured in wild-type (WT), Abcd1-deficient (Abcd1 KO), Abcd2-deficient (Abcd2 KO) and Abcd1/Abcd2 double-deficient (DOKO) cell preparations.
Christoph Wiesinger (634568) +5 more
core +1 more source
The role of ABCD1 in peroxisomal beta oxidation
, 2013 Die X-chromosomal vererbte Adrenoleukodystrophie (X-ALD) ist die am weitesten verbreitete peroxisomale Stoffwechselerkrankung und wird durch Mutationen im Gen ABCD1 verursacht.
Wiesinger, Christoph
core
Comprehensive Analysis of ATP Synthase-binding Cassette Transporter Genes in Breast Cancer: Prognostic Value of ABCD1, ABCA5 [PDF]
Research in Molecular MedicineBackground: ATP synthase-binding cassette (ABC) membrane transporter genes play a crucial role in mediating drug resistance and may serve as predictive biomarkers for treatment outcomes in breast cancer (BC).
Mohammad Parishani +4 more
doaj