Results 41 to 50 of about 4,693,382 (193)

A clinical case of a familial form of hereditary metabolic disease from the group of peroxisomal diseases (D-bifunctional protein deficiency) in the neonatal period

Медицинский вестник Юга России, 2023
A clinical case of a familial form of peroxisomal D-bifunctional protein (DBP) deficiency (OMIM 261515) with an unfavorable (fatal) outcome caused by a mutation in type 4 17ß-hydroxysteroid dehydrogenase (HSD17B4) with a nucleotide replacement of chr5 ...
S. B. Berezhanskaya, A. A. Afonin, N. N. Vostrikh, K. I. Lazareva, I. G. Loginova, L. V. Kravchenko, A. V. Medoyan, L. I. Monat   +7 more
doaj   +1 more source

Genomic organization, expression analysis, and chromosomal localization of the mouse PEX3 gene encoding a peroxisomal assembly protein [PDF]

, 2000
The peroxin Pex3p has been identified as an integral peroxisomal membrane protein in yeast where pex3 mutants lack peroxisomal remnant structures.
Muntau, Anja C., Muntau, AC, Mayerhofer, Peter U., Albet, Sabrina, Bugaut, Maurice, Bugaut, M, Mayerhofer, PU, Roscher, AA, Albet, S, Kammerer, S, Schmid, Thomas E., Roscher, Adelbert A., Kammerer, Stefan, Schmid, TE   +13 more
core   +1 more source

SIRT1 activation alleviates brain microvascular endothelial dysfunction in peroxisomal disorders

International Journal of Molecular Medicine, 2019
Peroxisomal disorders are genetically heterogeneous metabolic disorders associated with a deficit of very long chain fatty acid β-oxidation that commonly manifest as early-onset neurodegeneration.
Yunshan Zhang, G. Cui, Yue Wang, Yi Gong, Yu-Lan Wang   +4 more
semanticscholar   +1 more source

Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect

Frontiers in Cell and Developmental Biology, 2021
Peroxisome biogenesis disorders within the Zellweger spectrum (PBD-ZSDs) are most frequently associated with the c.2528G>A (p.G843D) mutation in the PEX1 gene (PEX1-G843D), which results in impaired import of peroxisomal matrix proteins and ...
Femke C. C. Klouwer, Femke C. C. Klouwer, Kim D. Falkenberg, Rob Ofman, Janet Koster, Démi van Gent, Sacha Ferdinandusse, Ronald J. A. Wanders, Hans R. Waterham   +8 more
doaj   +1 more source

From peroxisomal disorders to common neurodegenerative diseases – the role of ether phospholipids in the nervous system

FEBS Letters, 2017
The emerging diverse roles of ether (phospho)lipids in nervous system development and function in health and disease are currently attracting growing interest.
Fabian Dorninger, S. Forss-Petter, J. Berger   +2 more
semanticscholar   +1 more source

Peroxisome Biogenesis Disorders

Translational Science of Rare Diseases, 2016
The peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders in which peroxisome assembly is impaired, leading to deficiencies of peroxisomal enzymes, complex developmental sequelae and progressive disabilities.
Argyriou, Catherine, D’Agostino, Maria Daniela, Braverman, Nancy   +2 more
openaire   +3 more sources

Bile acids: the role of peroxisomes

Journal of Lipid Research, 2009
It is well established that peroxisomes play a crucial role in de novo bile acid synthesis. Studies in patients with a peroxisomal disorder have been indispensable for the elucidation of the precise role of peroxisomes.
Sacha Ferdinandusse, Simone Denis, Phyllis L. Faust, Ronald J.A. Wanders   +3 more
doaj   +1 more source

Phytanic acid alpha-oxidation: accumulation of 2-hydroxyphytanic acid and absence of 2-oxophytanic acid in plasma from patients with peroxisomal disorders.

Journal of Lipid Research, 1992
A stable isotope dilution method was developed for the measurement of 2-hydroxyphytanic acid and 2-oxophytanic acid in plasma. In plasma from healthy individuals and from patients with Refsum's disease, 2-hydroxyphytanic acid was found at levels less ...
HJ ten Brink, DS Schor, RM Kok, BT Poll-The, RJ Wanders, C Jakobs   +5 more
doaj   +1 more source

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

BOLILE PEROXIZOMALE LA COPIL [PDF]

Romanian Journal of Pediatrics, 2010
Peroxizomii sunt organite celulare prezente în majoritatea celulelor organismului, cu excepţia eritrocitelor mature. Peroxizomii sunt indispensabili pentru sinteza acizilor biliari, colesterolului şi lipidelor, incluzând plasmalogenele şi alte ...
Valeriu Popescu, Andrei Zamfirescu
doaj   +1 more source