Results 101 to 110 of about 3,353 (190)

Flow Cytometric Analysis of the Expression Pattern of Peroxisomal Proteins, Abcd1, Abcd2, and Abcd3 in BV-2 Murine Microglial Cells.

, 2017
International audienceMicroglial cells play important roles in neurodegenerative diseases including peroxisomal leukodystrophies. The BV-2 murine immortalized cells are widely used in the context of neurodegenerative researches. It is therefore important
Gondcaille, Catherine, Imen Helali, Mustapha Cherkaoui-Malki, Cherkaoui-Malki, Mustapha, Doriane Trompier, Gérard Lizard, Lizard, Gérard, Geillon, Flore, Andreoletti, Pierre, Flore Geillon, Savary, Stéphane, Terreau, Sébastien, Thomas Nury, Najid, Amina, Vejux, Anne, Stéphane Savary, Debbabi, Meryam, Anne Vejux, Sébastien Terreau, El Mostafa Karym, Bezine, Maryem, Maryem Bezine, Helali, Imen, Nury, Thomas, Trompier, Doriane, Pierre Andreoletti, Zarrouk, Amira, Amira Zarrouk, Karym, El Mostafa, Catherine Gondcaille, Amina Najid, Meryam Debbabi   +31 more
core   +1 more source

Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics

, 2016
X-linked adrenoleukodystrophy (ALD), a progressive neurodegenerative disease, is caused by mutations in ABCD1 and characterized by very-long-chain fatty acids (VLCFA) accumulation.
Schackmann, Martin J. A., van Geel, Björn M., Dijkstra, Inge M E, Dijkstra, Inge M. E., Wanders, Ronald J. A., Engelen, Marc, Ofman, Rob, Schackmann, Martin J A, Kemp, Stephan, Wanders, Ronald J A, van Engelen, Klaartje   +10 more
core   +1 more source

ABCD1 Gene [PDF]

, 2020
openaire   +1 more source

Lipoxidative and pro-apoptotic response in Abcd1-deficient U87 astrocytes and B12 oligodendrocytes is inhibited by SAHA.

, 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

Central precocious puberty in a boy with X-linked adrenoleukodystrophy caused by a novel ABCD1 mutation

Heliyon
X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder caused by pathogenic variants in the ABCD1 gene. The symptoms include primary adrenal insufficiency (PAI), progressive spinal cord disease, inflammatory demyelinating cerebral disease, and ...
Chaoyue Zhao, Hanhong Zhu, Jie Wang, Wenlong Liu, Yongzhen Xue, Yanyan Hu   +5 more
doaj   +1 more source

Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review

Molecular Genetics & Genomic Medicine
Background X‐linked adrenoleukodystrophy (X‐ALD) is the most common peroxisomal disorder attributed to ABCD1 mutations. Case reports with predominant brainstem involvement are rare.
Yulai Kang, Lu Guo, Zhuo Min, Lei Zhang, Lili Zhang, Chunhua Tang   +5 more
doaj   +1 more source

ABCD1 Gene Mutation [PDF]

, 2020
openaire   +1 more source

Comprehensive Analysis of ATP Synthase-binding Cassette Transporter Genes in Breast Cancer: Prognostic Value of ABCD1, ABCA5 [PDF]

Research in Molecular Medicine
Background: 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, Mohammad Fazilati, Habibolah Nazem, Hossein Salavati, Mohammad Mahdevar   +4 more
doaj  

ABCD1 wt Allele [PDF]

, 2020
openaire   +1 more source

Letter to the Editor from Erdoğan Özbuğday and Karakurt: "Primary adrenal insufficiency resulting in diagnosis of rare <i>ABCD1</i> pathogenic variant in X-linked adrenoleukodystrophy". [PDF]

JCEM Case Rep
Erdoğan Özbuğday H, Karakurt F.
europepmc   +1 more source