Results 21 to 30 of about 18,288 (188)

Peroxisomal dysfunctions cause lysosomal storage and axonal Kv1 channel redistribution in peripheral neuropathy [PDF]

, 2017
Impairment of peripheral nerve function is frequent in neurometabolic diseases, but mechanistically not well understood. Here, we report a novel disease mechanism and the finding that glial lipid metabolism is critical for axon function, independent of ...
Asadollahi, Ebrahim, Baes, Myriam, Blanz, Judith, Brügger, Britta, de Hoz, Livia, Kassmann, Celia Michèle, Kleinecke, Sandra, Kungl, Theresa, Lüchtenborg, Christian, McGonigal, Rhona, Möbius, Wiebke, Naseri, Kobra, Nave, Klaus-Armin, Quintes, Susanne, Richert, Sarah, Sachsenheimer, Timo, Sereda, Michael W., Willison, Hugh   +17 more
core   +3 more sources

Adrenoleukodystrophy: Childhood and Adult Forms Compared

Pediatric Neurology Briefs, 1991
Saturated, very long-chain fatty acids in erythrocyte membranes, blood plasma, and mononuclear cells were studied in 4 patients with childhood-adolescent adrenoleukodystrophy, 4 patients with adult adrenoleukodystrophy and 19 normal control subjects in ...
J Gordon Millichap
doaj   +1 more source

Brain Peroxisomes [PDF]

, 2013
Peroxisomes are essential organelles in higher eukaryotes as they play a major role in numerous metabolic pathways and redox homeostasis. Some peroxisomal abnormalities, which are often not compatible with life or normal development, were identified in ...
Geillon, Flore, Gondcaille, Catherine, Lizard, Gérard, Nury, T., Savary, Stéphane, Trompier, Doriane, Vejux, A., Zarrouk, A.   +7 more
core   +2 more sources

Immune response of BV-2 microglial cells is impacted by peroxisomal beta-oxidation

Frontiers in Molecular Neuroscience, 2023
Microglia are crucial for brain homeostasis, and dysfunction of these cells is a key driver in most neurodegenerative diseases, including peroxisomal leukodystrophies.
Ali Tawbeh, Quentin Raas, Mounia Tahri-Joutey, Mounia Tahri-Joutey, Céline Keime, Romain Kaiser, Doriane Trompier, Boubker Nasser, Emma Bellanger, Marie Dessard, Yannick Hamon, Alexandre Benani, Francesca Di Cara, Tânia Cunha Alves, Johannes Berger, Isabelle Weinhofer, Stéphane Mandard, Mustapha Cherkaoui-Malki, Pierre Andreoletti, Catherine Gondcaille, Stéphane Savary   +20 more
doaj   +1 more source

Lipid homeostasis and inflammatory activation are disturbed in classically activated macrophages with peroxisomal β-oxidation deficiency [PDF]

, 2017
Macrophage activation is characterized by pronounced metabolic adaptation. Classically activated macrophages show decreased rates of mitochondrial fatty acid oxidation and oxidative phosphorylation and acquire a glycolytic state together with their pro ...
Baes, Myriam, De Schryver, Evelyn, Geric, Ivana, Kagan, Valerian E, Krysko, Dmitri, Krysko, Olga, Tyurina, Yulia Y, Van Veldhoven, Paul P, Verheijden, Simon   +8 more
core   +2 more sources

Clinical and Genetic Analysis of Adrenoleukodystrophy in Adults

罕见病研究, 2022
Objective Adrenoleukodystrophy (ALD) is the most common peroxisomal diseases with high clinical and genetic heterogeneity. Our study is to analyze the phenotype and genotype characteristics of adult patients with ALD. Methods A total of 18 adult patients
WANG Mengwen, WU Chujun, ZHANG Zaiqiang
doaj   +1 more source

Adrenoleukodystrophy

, 2011
Abstract This chapter provides pictures and clinical details of ...
Roger E. Stevenson, Charles E. Schwartz, R. Curtis Rogers   +2 more
  +4 more sources

Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up

International Journal of Neonatal Screening, 2021
X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder.
Jamie Matteson, Stanley Sciortino, Lisa Feuchtbaum, Tracey Bishop, Richard S. Olney, Hao Tang   +5 more
doaj   +1 more source

Mitochondrial Thioredoxin System as a Modulator of Cyclophilin D Redox State [PDF]

, 2016
The mitochondrial thioredoxin system (NADPH, thioredoxin reductase, thioredoxin) is a major redox regulator. Here we have investigated the redox correlation between this system and the mitochondrial enzyme cyclophilin D.
Bindoli, Alberto, Cali', Tito, Citta, Anna, Folda, Alessandra, Rigobello, MARIA PIA, Scalcon, Valeria, Scutari, Guido, Zonta, Francesco   +7 more
core   +1 more source

Adrenoleukodystrophy: A Rare Clinical Scenario [PDF]

Indian Journal of Private Psychiatry
Background: Adrenoleukodystrophy is a genetic disorder involving the peroxisomes, that leads to defects in beta-oxidation and collection of very long-chain fatty acids.
Antara Kunwar, Jitendriya Biswal
doaj   +1 more source