Results 71 to 80 of about 3,353 (190)

Generation of an urine-derived induced pluripotent stem cell line from a 6-year old X-linked adrenoleukodystrophy (X-ALD) patient

Stem Cell Research, 2021
The gene mutations of the ATP-binding-cassette transporter subfamily D member 1 (ABCD1) can lead to the inherited neuro-metabolic malfunction disease X-linked adrenoleukodystrophy (X-ALD).
Long Wang, Beibei Gao, Xuming Mo, Xiaoling Guo, Jinyu Huang   +4 more
doaj   +1 more source

Caspase-9 and caspase-3 are involved in the Abcd1-deficiency-induced apoptotic response.

, 2013
Cells were treated with cytokines/SAHA in serum-free media and harvested after 24 h. Cell lysate was prepared from control, NT, and untreated/treated Abcd1-deficient U87 astrocytes and B12 oligodendrocytes as described in methods section.
Inderjit Singh (33771), Aurora Pujol (22834), Mauhamad Baarine (584660), Jaspreet Singh (533281), Mushfiquddin Khan (584659)   +4 more
core   +1 more source

Generation of a WA14 hESC sub-line carrying a hemizygous ABCD1 (C.1696_1710 del) mutation introduced by CRISPR/Cas9 technology

Stem Cell Research, 2021
ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene is a member of ABC transporter super family, which conduct peroxisomal import of very long chain fatty acid and crucial underlying factor that induces X-linked adrenoleukodystrophy (X-ALD)
Wonjun Hong, Wonjin Yun, Wonji Choi, Daryeon Son, Gwonhwa Song, Seungkwon You   +5 more
doaj   +1 more source

Understanding the Epigenetic Landscape of Barrett's Esophagus and Esophageal Cancer: A Review of Current Findings, Caveats and Future Directions

Genes, Chromosomes and Cancer, Volume 65, Issue 9, September 2026.
ABSTRACT Esophageal cancer (OC) is currently the eighth most common form of cancer worldwide with a 5‐year survival rate of 10%–20%, with the primary risk factor of esophageal adenocarcinoma (OAC) being the development of Barrett's Esophagus (BO).
Louise Lawless, Trevor Doherty, Carla Surlis, Niamh Gilmartin, Therese M. Murphy   +4 more
wiley   +1 more source

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy

Case Reports in Genetics, 2019
Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with classical features, which can be also recognised in a low resource setting. It had been described in various populations across the globe, but very few cases have been reported from ...
M. C. J. Dekker, A. M. Sadiq, R. Mc Larty, R. M. Mbwasi, M. A. A. P. Willemsen, H. R. Waterham, B. C. Hamel   +6 more
doaj   +1 more source

ABCD2 is a direct target of β-catenin and TCF-4: implications for X-linked adrenoleukodystrophy therapy. [PDF]

PLoS ONE, 2013
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene that encodes the peroxisomal ATP-binding cassette (ABC) transporter subfamily D member 1 protein (ABCD1), which is referred to as the ...
Chul-Yong Park, Han-Soo Kim, Jiho Jang, Hyunji Lee, Jae Souk Lee, Jeong-Eun Yoo, Dongjin R Lee, Dong-Wook Kim   +7 more
doaj   +1 more source

Synaptic Mitochondrial Oxidative Stress Contributes to Individual Variability in Age‐Related Cognitive Inflexibility in Mice

Aging Cell, Volume 25, Issue 9, September 2026.
Aged mice showed substantial individual variability in cognitive inflexibility, associated with greater abundance of synapse‐associated mitochondrial proteins in the medial prefrontal cortex. The mitochondria‐targeted antioxidant MitoQ improved attentional set‐shifting performance and reduced the abundance of synaptosomal mitochondrial proteins ...
Rui Yamada, Hirotaka Nagai, Chisato Numa, Yunhui Zhu, Midori Nagai, Kohei Ota, Yusuke Kawashima, Nobuhiko Ohno, Tomoyuki Furuyashiki   +8 more
wiley   +1 more source

Silencing of Abcd1 and Abcd2 genes sensitizes astrocytes for inflammation: implication for X-adrenoleukodystrophy*

Journal of Lipid Research, 2009
X-linked adrenoleukodystrophy is a metabolic disorder arising from a mutation/deletion in the ABCD1 gene, leading to a defect in the peroxisomal adrenoleukodystrophy protein (ALDP), which inhibits the oxidation of very long chain fatty acids (VLCFAs ...
Jaspreet Singh, Mushfiquddin Khan, Inderjit Singh   +2 more
doaj   +1 more source

Endogenous Abcd1 and Abcd2 mRNA levels in peritoneal macrophages of wild-type and Abcd1-deficient mice.

, 2014
(A) The Abcd1 and Abcd2 mRNA copy numbers in C57BL/6J wild-type MPMΦ were determined by qRT-PCR. (B) Comparison of Abcd2 mRNA levels in wild-type (WT) and Abcd1-deficient (KO) MPMΦ. The numbers of samples (n) are indicated below the graphs.
Christoph Wiesinger (634568), Till Voigtländer (634569), Johannes Berger (6439), Zahid Muneer (606786), Hauke B. Werner (176255), Sonja Forss-Petter (188101)   +5 more
core   +1 more source

A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification

Frontiers in Genetics
Adrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of
Xiaoxue Shi, Xiaoxue Shi, Xiaoxue Shi, Xuelin Qi, Xuelin Qi, Jinhua Zheng, Jinhua Zheng, Jinhua Zheng, Jianjun Ma, Jianjun Ma, Jianjun Ma, Dongsheng Li, Dongsheng Li, Dongsheng Li   +13 more
doaj   +1 more source