Results 11 to 20 of about 12,596 (155)

Dysfunctional peroxisomal lipid metabolisms and their ocular manifestations

Frontiers in Cell and Developmental Biology, 2022
Retina is rich in lipids and dyslipidemia causes retinal dysfunction and eye diseases. In retina, lipids are not only important membrane component in cells and organelles but also fuel substrates for energy production.
Chuck T. Chen, Zhuo Shao, Zhuo Shao, Zhuo Shao, Zhongjie Fu   +4 more
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Cytoprotective and Antioxidants in Peroxisomal Neurodegenerative Diseases

Proceedings, 2019
Several of the peroxisomal neurodegenerative disorders are the consequence of a specific deficiency of an enzyme or a transporter involved in peroxisomal beta-oxidation of very long chain fatty acids [1,2].
Mustapha Cherkaoui-Malki, Saad Shaaban, Mounia Tahri-Joutey, Ahmed Elshobaky, Fatima-Ezzahra Saih, Dominique Vervandier-Fasseur, Claus Jacob, Boubker Nasser, Norbert Latruffe, Pierre Andreoletti   +9 more
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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
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Peroxisomal Disorders Diagnosis

Pediatric Neurology Briefs, 1998
The clinical manifestations of 27 patients affected with peroxisomal disorders and seen between 1982 and 1997 are described from the Hopital Necker-Enfants Malades, Paris, and other centers.
J Gordon Millichap
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PEX6 Mutations in Peroxisomal Biogenesis Disorders

Ophthalmology Science, 2021
Purpose: Peroxisomal biogenesis disorders (PBDs) represent a spectrum of conditions that result in vision loss, sensorineural hearing loss, neurologic dysfunction, and other abnormalities resulting from aberrant peroxisomal function caused by mutations ...
Matthew D. Benson, MD, Kimberly M. Papp, BSc, Geoffrey A. Casey, BSc(EE), BSc(MolBiol), Alina Radziwon, BSc, Chris D. St Laurent, BSc, Lance P. Doucette, PhD, Ian M. MacDonald, MD, CM   +6 more
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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

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
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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
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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
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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
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