Results 11 to 20 of about 5,661,504 (280)

Regulation of lipid and redox metabolism in X-linked Adrenoleukodystrophy (X-ALD): therapeutic implications [PDF]

, 2021
X-linked adrenoleukodystrophy (X-ALD) is a rare neurometabolic disease characterized by the loss of function of the peroxisomal transporter ABCD1, which leads to an accumulation of very long-chain fatty acids (VLCFA), inducing the production of mitochondrial reactive oxygen species.
Goicoechea Barrenechea, Leire
core   +10 more sources

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management [PDF]

Orphanet Journal of Rare Diseases, 2012
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; ≥ C22). A defect in ALDP results in elevated levels of VLCFA in plasma and tissues.
Engelen, Marc, Kemp, Stephan, de Visser, Marianne, van Geel, Björn, Wanders, Ronald, Aubourg, Patrick, Poll-The, Bwee   +6 more
core   +7 more sources

Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample [PDF]

Journal of Neurology, 2009
X-linked adrenoleukodystrophy (X-ALD) is the most common inherited leukodystrophy. Nevertheless, no genotype-phenotype correlation has been established so far. Unidentified modifier genes or other cofactors are suspected to modulate phenotype and prognosis.
Semmler, A, Bao, X, Cao, G, Köhler, W, Weller, M, Aubourg, P, Linnebank, M   +6 more
openaire   +5 more sources

NRF2 and RIP140 as new therapeutic targets for X-linked adrenoleukodystrophy (X-ALD): Control of redox/metabolic homeostasis and inflammation [PDF]

, 2017
[eng] X-linked adrenoleukodystrophy (X-ALD) is a rare neurometabolic disease characterized by the loss of function of the peroxisomal transporter ABCD1, which leads to an accumulation of very long-chain fatty acids, inducing mitochondrial reactive ...
Ranea Robles, Pablo
core   +7 more sources

The role of inflammatory mediators in the pathophysiology of X‐ALD disease [PDF]

Journal of Neurochemistry, 2002
CER is the most frequent clinical phenotype of the defective X‐ALD (ALD; ABCD1) gene, which results in accumulation of VLCFAs (in plasma, brain, adrenal glands and testis), inflammatory demyelination and subsequent death in children. To understand the inflammatory mediators that play a role in the neuropathology of CER, we studied mRNA expressions of ...
A. S. Paintlia, A. K. Singh, I. Singh
openaire   +1 more source

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Frontiers in Cell and Developmental Biology, 2020
X-linked adrenoleukodystrophy (ALD) is a devastating metabolic disorder affecting the adrenal glands, brain and spinal cord. Males with ALD are at high risk for developing adrenal insufficiency or progressive cerebral white matter lesions (cerebral ALD ...
Rinse W. Barendsen, Rinse W. Barendsen, Inge M. E. Dijkstra, Wouter F. Visser, Mariëlle Alders, Jet Bliek, Anita Boelen, Marelle J. Bouva, Saskia N. van der Crabben, Ellen Elsinghorst, Ankie G. M. van Gorp, Annemieke C. Heijboer, Annemieke C. Heijboer, Mandy Jansen, Yorrick R. J. Jaspers, Henk van Lenthe, Ingrid Metgod, Ingrid Metgod, Christiaan F. Mooij, Elise H. C. van der Sluijs, A. S. Paul van Trotsenburg, Rendelien K. Verschoof-Puite, Frédéric M. Vaz, Hans R. Waterham, Frits A. Wijburg, Marc Engelen, Eugènie Dekkers, Stephan Kemp, Stephan Kemp   +28 more
doaj   +1 more source

Comparative Study of Thermal and Plasma-Enhanced Atomic Layer Deposition of Iron Oxide Using Bis(N,N′-di-butylacetamidinato)iron(II)

Nanomaterials, 2023
Only a few iron precursors that can be used in the atomic layer deposition (ALD) of iron oxides have been examined thus far. This study aimed to compare the various properties of FeOx thin films deposited using thermal ALD and plasma-enhanced ALD (PEALD)
Boyun Choi, Gun-Woo Park, Jong-Ryul Jeong, Nari Jeon   +3 more
doaj   +1 more source

Novel Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease [PDF]

Endocrinology and Metabolism, 2020
X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1).
Yun Kyung Cho, Seo-Young Lee, Sang-Wook Kim   +2 more
doaj   +1 more source

Newborn Screening for X-Linked Adrenoleukodystrophy

International Journal of Neonatal Screening, 2016
Early diagnosis of males with X-linked adrenoleukodystrophy (X-ALD) is essential for preventing loss of life due to adrenal insufficiency and for timely therapy of the childhood cerebral form of X-ALD with hematopoietic cell transplantation. This article
Ann B. Moser, Richard O. Jones, Walter C. Hubbard, Silvia Tortorelli, Joseph J. Orsini, Michele Caggana, Beth H. Vogel, Gerald V. Raymond   +7 more
doaj   +1 more source

The Role of Oxidative Stress and Inflammation in X-Link Adrenoleukodystrophy

Frontiers in Nutrition, 2022
X-linked adrenoleukodystrophy (X-ALD) is an inherited disease caused by a mutation in the ABCD1 gene encoding a peroxisomal transmembrane protein. It is characterized by the accumulation of very-long-chain fatty acids (VLCFAs) in body fluids and tissues,
Jiayu Yu, Jiayu Yu, Ting Chen, Ting Chen, Xin Guo, Mohammad Ishraq Zafar, Huiqing Li, Huiqing Li, Zhihua Wang, Zhihua Wang, Juan Zheng, Juan Zheng   +11 more
doaj   +1 more source