Results 51 to 60 of about 3,353 (190)

Saturated very long-chain fatty acids regulate macrophage plasticity and invasiveness

open access: yesJournal of Neuroinflammation, 2022
Saturated very long-chain fatty acids (VLCFA, ≥ C22), enriched in brain myelin and innate immune cells, accumulate in X-linked adrenoleukodystrophy (X-ALD) due to inherited dysfunction of the peroxisomal VLCFA transporter ABCD1.
Bettina Zierfuss   +15 more
doaj   +1 more source

The RNA N6-Methyladenosine Methyltransferase METTL3 Promotes the Progression of Kidney Cancer via N6-Methyladenosine-Dependent Translational Enhancement of ABCD1

open access: yesFrontiers in Cell and Developmental Biology, 2021
The role of N6-methyladenosine (m6A)-modifying proteins in cancer progression depends on the cell type and mRNA affected. However, the biological role and underlying mechanism of m6A in kidney cancer is limited. Here, we discovered the variability in m6A
Yue Shi   +15 more
doaj   +1 more source

Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophy

open access: yesMolecular Genetics & Genomic Medicine, 2022
Background Variants in the ATP binding cassette protein subfamily D member 1 (ABCD1) gene are known to cause X‐linked adrenoleukodystrophy (X‐ALD). This study focused on the characteristics of ABCD1 variants in Chinese X‐ALD families and elucidated the ...
Siwen Liu   +8 more
doaj   +1 more source

SAHA treatment upregulates Abcd2 and Abcd3 levels in Abcd1-deficient U87 astrocytes and B12 oligodendrocytes.

open access: yes, 2013
There was no change in Abcd1 protein levels (A-i and E-i) and mRNA expression (A-ii and E-ii) in Abcd1-deficient U87 astrocytes and B12 oligodendrocytes treated with SAHA. Abcd2 (B and F) and Abcd3 (C and G) protein levels (i) and mRNA expression (ii) in
Inderjit Singh (33771)   +4 more
core   +1 more source

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse   +13 more
wiley   +1 more source

Elovl1 mRNA levels in wild-type, Abcd1-, Abcd2-, and Abcd1/Abcd2 double-deficient mouse peritoneal macrophages.

open access: yes, 2014
The Elovl1 mRNA copy numbers were determined by qRT-PCR in total RNA from mouse peritoneal macrophages of wild-type (WT), Abcd1-deficient (Abcd1 KO), Abcd2-deficient (Abcd2 KO) and Abcd1/Abcd2 double-deficient (DOKO) mice. The graphs indicate mean values
Christoph Wiesinger (634568)   +5 more
core   +1 more source

Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations

open access: yesStem Cell Research, 2021
Adrenoleukodystrophy (ALD) is an X-linked genetic disorder, characterized by demyelination in the central nervous system and adrenal insufficiency. Human induced pluripotent stem cell (hiPSC) lines derived from two Japanese male patients with ALD were ...
Yuji Kuramochi   +15 more
doaj   +1 more source

Transcriptomic Profiling of SLC and ABC Transporters in the Human Term Placenta

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
Solute carriers (SLC) and ATP‐binding cassette (ABC) transporters are essential for placental solute exchange and fetal protection, yet their transcriptomic profiles in the human placenta remain poorly characterized. Although fetal sex influences placental development and function, its impact on transporter expression is unclear.
Elijah Marsh Jung   +12 more
wiley   +1 more source

Lentiviral-mediated stable silencing of Abcd1 in human U87 astrocytoma and rat B12 oligodendrocytes.

open access: yes, 2013
Pool of three GFP-tagged lentiviral-shRNAs for Abcd1 was used for transduction of human U87 astrocytes and rat B12 oligodendrocytes. Human U87 astrocytoma cells (U87-astrocytes) and rat B12 oligodendrocytes (B12 oligodendrocytes) were tranduced with ...
Inderjit Singh (33771)   +4 more
core   +1 more source

Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy

open access: yes, 2023
X-linked adrenoleukodystrophy (X-ALD) is a rare inborn error of the peroxisomal metabolism caused by pathologic variants in the ATP-binding cassette transporter type D, member 1 (ABCD1) gene located on the X-chromosome.
Magdalena Gastager-Ehgartner   +6 more
core   +1 more source

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