Results 21 to 30 of about 12,596 (155)

Peroxisome biogenesis disorders

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2006
Defects in PEX genes impair peroxisome assembly and multiple metabolic pathways confined to this organelle, thus providing the biochemical and molecular bases of the peroxisome biogenesis disorders (PBD). PBD are divided into two types--Zellweger syndrome spectrum (ZSS) and rhizomelic chondrodysplasia punctata (RCDP).
Steinberg, Steven J., Dodt, Gabriele, Raymond, Gerald V., Braverman, Nancy E., Moser, Ann B., Moser, Hugo W.   +5 more
openaire   +2 more sources

A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

Molecular Genetics and Metabolism Reports, 2015
We present a patient with a unique neurological phenotype with a progressive neurodegenerative. An 18-year diagnostic odyssey for the patient ended when exome sequencing identified a homozygous PEX16 mutation suggesting an atypical peroxisomal biogenesis
Carlos A. Bacino, Yu-Hsin Chao, Elaine Seto, Tim Lotze, Fan Xia, Richard O. Jones, Ann Moser, Michael F. Wangler   +7 more
doaj   +1 more source

Peroxisomal biogenesis disorders in Zellweger syndrome spectrum: diagnosis, monitoring and treatment according to the recommendations of the Global Foundation for Peroxisomal Disorders

Zdorovʹe Rebenka, 2018
The article deals with the modern principles for the diagnosis and treatment of peroxisomal biogenesis disorders of Zellweger syndrome spectrum according to the recommendations of the Global Foundation for Peroxisomal Disorders 2016.
M.A. Gonchar, G.R. Muratov, O.L. Logvinova, E.M. Pushkar, E.P. Pomazunovskaya, E.V. Omelchenko, N.V. Shulga, I.M. Galdina, A.S. Zubko, N.V. Strebul   +9 more
doaj   +1 more source

Epoxide hydrolase in human and rat peroxisomes: implication for disorders of peroxisomal biogenesis.

Journal of Lipid Research, 1996
To understand the basis of excretion of excessive amounts of epoxydicarboxylic fatty acids (EDFA) in urine of patients with disorders of peroxisomal biogenesis (Pitt, J. J., and A. Poulos. 1993. Clin. Chim. Acta.
K Pahan, B T Smith, I Singh
doaj   +1 more source

Depletion of LONP2 unmasks differential requirements for peroxisomal function between cell types and in cholesterol metabolism

Biology Direct, 2023
Peroxisomes play a central role in tuning metabolic and signaling programs in a tissue- and cell-type-specific manner. However, the mechanisms by which the status of peroxisomes is communicated and integrated into cellular signaling pathways are not yet ...
Akihiro Yamashita, Olesia Ignatenko, Mai Nguyen, Raphaëlle Lambert, Kathleen Watt, Caroline Daneault, Isabelle Robillard-Frayne, Ivan Topisirovic, Christine Des Rosiers, Heidi M. McBride   +9 more
doaj   +1 more source

Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse.

PLoS Genetics, 2017
Peroxisome biogenesis disorders (PBD) are a group of multi-system human diseases due to mutations in the PEX genes that are responsible for peroxisome assembly and function.
Michael F Wangler, Yu-Hsin Chao, Vafa Bayat, Nikolaos Giagtzoglou, Abhijit Babaji Shinde, Nagireddy Putluri, Cristian Coarfa, Taraka Donti, Brett H Graham, Joseph E Faust, James A McNew, Ann Moser, Marco Sardiello, Myriam Baes, Hugo J Bellen   +14 more
doaj   +1 more source

Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography.

Journal of Lipid Research, 1992
A sensitive and selective stable isotope dilution method was developed for the accurate quantitation of pristanic acid and phytanic acid using electron capture negative ion mass fragmentography on pentafluorobenzyl derivatives.
HJ ten Brink, F Stellaard, CM van den Heuvel, RM Kok, DS Schor, RJ Wanders, C Jakobs   +6 more
doaj   +1 more source

Peroxisomal defects in microglial cells induce a disease-associated microglial signature

Frontiers in Molecular Neuroscience, 2023
Microglial cells ensure essential roles in brain homeostasis. In pathological condition, microglia adopt a common signature, called disease-associated microglial (DAM) signature, characterized by the loss of homeostatic genes and the induction of disease-
Quentin Raas, Ali Tawbeh, Mounia Tahri-Joutey, Mounia Tahri-Joutey, Catherine Gondcaille, Céline Keime, Romain Kaiser, Doriane Trompier, Boubker Nasser, Valerio Leoni, Emma Bellanger, Maud Boussand, Yannick Hamon, Alexandre Benani, Francesca Di Cara, Caroline Truntzer, Mustapha Cherkaoui-Malki, Pierre Andreoletti, Stéphane Savary   +18 more
doaj   +1 more source

Control of mitochondrial dynamics and apoptotic pathways by peroxisomes

Frontiers in Cell and Developmental Biology, 2022
Peroxisomes are organelles containing different enzymes that catalyze various metabolic pathways such as β-oxidation of very long-chain fatty acids and synthesis of plasmalogens. Peroxisome biogenesis is controlled by a family of proteins called peroxins,
Chenxing Jiang, Tomohiko Okazaki
doaj   +1 more source

Lipoprotein[a] is not present in the plasma of patients with some peroxisomal disorders

Journal of Lipid Research, 1997
Peroxisomal disorders arise either from defects in the biogenesis of peroxisomes or from the defective synthesis of one or more peroxisomal enzymes. These defects result in metabolic disturbances in peroxisomal beta-oxidation of various fatty acids and ...
Y Y van der Hoek, R J Wanders, A E van den Ende, H G Kraft, B R Gabel, J J Kastelein, M L Koschinsky   +6 more
doaj   +1 more source