Results 51 to 60 of about 1,386 (146)

Atypical MRI Findings in Cerebral Adrenoleukodystrophy: a Case Report

Acta Clinica Croatica, 2021
Adrenoleukodystrophy is a rare X-linked hereditary disease that results in accumulation of very-long-chain fatty acids in all body tissues, thus causing demyelination of the white matter.
Koray Koç, Arzu Canan, Pınar Koç, Kamil Karaali, Özgür Duman, Utku Şenol   +5 more
doaj   +1 more source

Peroxisomal Lipid Metabolism as a Therapeutic Target in Leukemia

Molecular Nutrition &Food Research, Volume 70, Issue 11, 15 June 2026.
Peroxisomes are emerging as key regulators of lipid metabolism in leukemia. Enhanced metabolism of very‐long‐chain fatty acids (VLCFAs) supports leukemia cell survival, redox homeostasis, and therapeutic resistance. Pharmacologic disruption of peroxisomal fatty acid oxidation causes VLCFA accumulation, oxidative stress, and mitochondrial dysfunction ...
Ekaterina N. Parfenova, Paul A. Spagnuolo   +1 more
wiley   +1 more source

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis

Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho, Pedro Lucas G. S. B. Lima, Tito B. S. Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T. A. Furtado, Ana Lucila Moreira, André L. S. Pessoa, Paulo R. Nóbrega, Pedro Braga‐Neto   +8 more
wiley   +1 more source

Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy

, 2006
A combined genotype of polymorphisms of methionine metabolism has been associated with CNS demyelination in methotrexate-treated patients. Within a sample of 86 patients with X-linked adrenoleukodystrophy, this genotype was overrepresented in a subgroup ...
Kemp, S., Klockgether, T., Wullner, U., Kemp, S (Stephan), Kohler, W, Gartner, J, Linnebank, M, Schmidt, S, Schmidt, S., Fliessbach, K., Kleijer, WJ (Wim), Klockgether, T, Sokolowski, P, Gärtner, Jutta, van der Sterre, M. L. T., Kohler, W., Semmler, A, Wanders, Ronald J. A., Wanders, RJA, Linnebank, M., Sterre, Marianne, Fliessbach, K, Wullner, U, Semmler, A., Schlegel, U, Kleijer, W. J., Sokolowski, P., Schlegel, U.   +27 more
core   +1 more source

Current and Future Pharmacological Treatment Strategies in X-linked Adrenoleukodystrophy [PDF]

, 2018
Mutations in the ABCD1 gene cause the clinical spectrum of the neurometabolic disorder X-linked adrenoleukodystrophy/adrenomyeloneuropathy (X-ALD/AMN). Currently, the most efficient therapeutic opportunity for patients with the cerebral form of X-ALD is ...
Pujol Onofre, Aurora, Aubourg, Patrick, Forss-Petter, Sonja, Berger, Johannes   +3 more
core   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Molecular Probes for Tracking Reactive Oxygen Species at the Organelle Interface

Analysis &Sensing, Volume 6, Issue 3, May 2026.
This perspective charts the frontier of visualizing compartmentalized redox signaling across mitochondria, the ER, lysosomes, and the underexplored peroxisome. It discusses evolving molecular probe designs, the integration of multiplexed imaging, and the specific engineering challenges for tracking ROS at organelle interfaces.
Daniela Ceballos‐Ávila, Arturo Jiménez‐Sánchez   +1 more
wiley   +1 more source

Peroxisomal ABC transporters and X-linked adrenoleukodystrophy

, 2012
X-linked adrenoleukodystrophy (X-ALD) is a complex neurodegenerative disease associated with mutations in the ABCD1 gene, which encodes for a peroxisomal ABC transporter.
Gondcaille, Catherine, Flore Geillon, Trompier, Doriane, Savary, Stéphane, Stéphane Savary, Doriane Trompier, Gérard Lizard, Catherine Gondcaille, Lizard, Gérard, Geillon, Flore   +9 more
core   +1 more source

In vitro effect of N-acetyl-L-cysteine on glutathione and sulfhydryl levels in X-linked adrenoleukodystrophy patients

Clinical and Biomedical Research, 2017
Introduction: Recent evidence shows that oxidative stress seems to be related with the pathophysiology of X-linked adrenoleukodystrophy (X-ALD), a neurodegenerative disorder. Methods: In the present study, the in vitro effect of N-acetyl-L-cysteine (NAC)
Desirèe Padilha Marchetti, Bruna Donida, Marion Deon, Carlos Eduardo Jacques, Laura Bannach Jardim, Carmen Regla Vargas   +5 more
doaj   +2 more sources

‐linked adrenoleukodystrophy among adult men with Addison's disease

, 2013
ObjectivesX-linked adrenoleukodystrophy is an important cause of Addison's disease in boys, but less is known about its contribution to Addison's disease in adult men.
Morten A. Horn, Anette S. B. Wolff, Wolff, A. S. B., Skjeldal, Ola H., Ola H. Skjeldal, Husebye, E. S., Jan‐Eric Månsson, Erichsen, M. M., Månsson, Jan-Eric,, Eystein S. Husebye, Horn, M. A., Chantal M. E. Tallaksen, Martina M. Erichsen, Tallaksen, C. M. E.   +13 more
core   +1 more source