Results 81 to 90 of about 7,333,851 (157)

Analysis of the effects of PPAR-a-ligand fenofibrate on ABCD1-deficient mice

, 2014
The X-linked adrenoleukodystrophy is a peroxisomal hereditary metabolic disease that is due to the loss of function of the peroxisomal transmembrane transporter ABCD1.
Linßen, Johannes
core   +1 more source

Secondary failure of lentiviral vector gene therapy in a cerebral adrenoleukodystrophy patient with an ABCD1 whole-gene deletion

Molecular Therapy
A 9-year-old boy with adrenoleukodystrophy due to ABCD1 whole-gene deletion was diagnosed with active cerebral adrenoleukodystrophy characterized by demyelination and gadolinium enhancement on brain MRI. He underwent hematopoietic cell transplant (HCT) with autologous CD34+ cells transduced with an ABCD1-expressing lentiviral vector (eli-cel ...
Troy C. Lund, Paul J. Orchard, David R. Nascene, Carina J. King, Jennifer Braun, Stuti Thakkar, Willa Durose, Ilya Shestopalov, Himal Thakar, Ashish O. Gupta   +9 more
openaire   +2 more sources

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  

An in vitro and in vivo efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs [PDF]

Adrenomyeloneuropathy is a progressive neurodegenerative disease caused by pathogenic variants in the ABCD1 gene, resulting in very-long-chain fatty acid (VLCFA) accumulation that leads to dying-back axonopathy.
Maguire, Casey A., Eichler, Florian, Pujol, Aurora, Ng, Carrie, Verdés, Sergi, Kemp, Stephan, Leal-Julià, Marc, Park, HongGeun, Bosch i Merino, Assumpció, Anderson, David W., Clark, Sean W., Vasireddy, Vidyullatha, Lutz, Tiffany, Onieva Salgado, Andrea, Gong, Yi, Kozarsky, Karen, Fourcade, Stéphane, Dijkstra, Inge M.E., Guilera, Cristina, Sanchez, Angela   +19 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., Mooyer,Petra A.W., Dijkstra,Inge M.E., Dekker,Conny J.M., Vats,Divya, Vera,Moin, Ruzhnikov,Maura R.Z., van Haren,Keith, Tang,Nelson, Koop, K, Willemsen, Michel A., Hui,Joannie, Vaz,Frédéric M., Ebberink,Merel S., Engelen,Marc, Kemp,Stephan, Ferdinandusse,Sacha, PMC Medisch specialisten, Metabole ziekten patientenzorg   +18 more
openaire   +1 more source

Induction of the adrenoleukodystrophy-related gene (ABCD2) by thyromimetics

, 2009
peer reviewedX-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by mutations in the ABCD1 (ALD) gene. The ABCD2 gene, its closest homolog, has been shown to compensate for ABCD1 deficiency when overexpressed.
Gondcaille, Catherine, Trompier, Doriane, Savary, Stéphane, Genin, Emmanuelle   +3 more
core   +1 more source

Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy

, 2019
Mutations in the gene encoding the peroxisomal ATP-binding cassette transporter (ABCD1) cause elevations in very long-chain fatty acids (VLCFAs) and the neurodegenerative disease adrenoleukodystrophy (ALD).
Maguire, Casey A., Eichler, Florian, Ng, Carrie, Wang, Dan, Kemp, Stephan, Berenson, Anna, Volak, Adrienn, Kok, Rene, Kreouzis, Vasileios, Laheji, Fiza, Dijkstra, Inge M., Gao, Guangping, Gong, Yi   +12 more
core   +1 more source

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

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

Characterization of a new rabbit model of X-linked adrenoleukodystrophy and developing adeno-associated virus-based gene therapy

, 2019
Adrenoleukodystrophy (X-ALD) is an X-linked metabolic disorder caused by mutations in the ABCD1 gene. ABCD1 encodes a peroxisomal transmembrane protein called ATP-binding cassette subfamily D member 1.
Ma, Chui Yan, 馬趣欣
core  

Histone Deacetylase Inhibitor Upregulates Peroxisomal Fatty Acid Oxidation And Inhibits Apoptotic Cell Death In Abcd1-deficient Glial Cells

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.
Pujol Onofre, Aurora, Khan, Mushfiquddin, Singh, Jaspreet, Singh, Inderjit, Baarine, Mauhamad   +4 more
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