Results 31 to 40 of about 18,427 (209)

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

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

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

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

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

Oxidative stress and adrenocortical insufficiency [PDF]

, 2016
This work has been supported by the Wellcome Trust (Clinical Research Training Fellowship grant number WT095984AIA to R P) and the Medical Research Council UK (project grant number MR/K020455/1 to L A ...
Allgrove, Azhar, Basel-Vanagaite, Behne, Chanoine, Clark, Cox, Dixit, E Meimaridou, Ferrari, Forss-Petter, Galea, Galino, GONCHAROVA, Goncharova, Grinberg, Gruber, H L Storr, Hamre, Handschug, Hanukoglu, Hanukoglu, Hayashi, Hoftberger, Hornig, Hornsby, Houlden, Huebner, Huebner, Hughes, J C Kowalczyk, Kemp, Khan, Kil, Kim, Kind, Kiriyama, Krumbholz, Kulkarni, L A Metherell, Lu, Meimaridou, Metherell, Milenkovic, Miller, Neilson, Neilson, Palmieri, Powers, Pujol, R Prasad, Rapoport, Ray, Rossmeisl, Sena, Storr, Svirbely, Toye, Troffer-Charlier, Vallet, Watabe, Wichers-Rother, Woo, Zhang, Zhao, Ziegler   +65 more
core   +1 more source

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

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

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

Adrenoleukodystrophy

, 2010
X-linked adrenoleukodystrophy (ALD) is caused by mutations in the ABCD1 gene that encodes a protein of the peroxisomal membrane named ALDP. Mutations in ALDP result in elevated levels of very long chain fatty acids (VLCFA) and reduced VLCFA oxidation in peroxisomes. Three main phenotypes are seen in affected males. The childhood cerebral form manifests
Cappa M, Bizzarri C, Vollono C, Petroni A, BANNI, SEBASTIANO   +4 more
openaire   +4 more sources