Results 31 to 40 of about 12,596 (155)
Molecular Genetics and Metabolism Reports, 2020 Zellweger spectrum disorders (ZSD) are rare, debilitating genetic diseases of peroxisome biogenesis that affect multiple organ systems and present with broad clinical heterogeneity. Although many case studies have characterized the multitude of signs and
Mousumi Bose +10 more
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Fission Impossible (?)—New Insights into Disorders of Peroxisome Dynamics
Cells, 2022 Peroxisomes are highly dynamic and responsive organelles, which can adjust their morphology, number, intracellular position, and metabolic functions according to cellular needs.
Ruth E. Carmichael +2 more
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Journal of Lipid Research, 1999 Recent studies have indicated that two peroxisomal enzymes involved in ether lipid synthesis, i.e., dihydroxyacetonephosphate acyltransferase and alkyl-dihydroxyacetonephosphate synthase, are directed to peroxisomes by different targeting signals, i.e ...
E.C.J.M. de Vet +6 more
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Cells, 2022 Retinal degeneration is a common feature in peroxisomal disorders leading to blindness. Peroxisomes are present in the different cell types of the retina; however, their precise contribution to retinal integrity is still unclear.
Daniëlle Swinkels +7 more
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Reassessing very long chain fatty acids elevations: Sitosterolemia as a non-peroxisomal cause
Molecular Genetics and Metabolism ReportsVery-long-chain fatty acids (VLCFAs) are commonly used to diagnose peroxisomal disorders, but elevated levels may also result from other non-peroxisomal causes, leading to diagnostic challenges.
Merve Yoldaş Çelik +3 more
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Journal of Inborn Errors of Metabolism and Screening, 2018 The clinical as well as biochemical and genetic spectrum of peroxisomal diseases has markedly increased over the last few years, thanks to the revolutionary advances in the field of genome analysis and several -omics technologies.
Ronald J. A. Wanders PhD +5 more
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Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes
The Turkish Journal of Pediatrics, 2019 Alpha methy acyl CoA racemase (AMACR) deficiency is a rare autosomal recessive peroxisomal disorder characterized by cholestatic liver disease in the neonatal period, and variable neurologic symptoms affecting central and peripheral nervous systems in ...
Mehmet Gündüz +3 more
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Peroxisomes in Different Skeletal Cell Types during Intramembranous and Endochondral Ossification and Their Regulation during Osteoblast Differentiation by Distinct Peroxisome Proliferator-Activated Receptors. [PDF]
PLoS ONE, 2015 Ossification defects leading to craniofacial dysmorphism or rhizomelia are typical phenotypes in patients and corresponding knockout mouse models with distinct peroxisomal disorders. Despite these obvious skeletal pathologies, to date no careful analysis
Guofeng Qian +4 more
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Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration
Frontiers in Genetics, 2018 Mitochondrial Fission Factor (MFF) is part of a protein complex that promotes mitochondria and peroxisome fission. Hitherto, only 5 patients have been reported harboring mutations in MFF, all of them with the clinical features of a very early onset Leigh-
Alessia Nasca +8 more
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Autosomal recessive cerebellar ataxia caused by mutations in the
Orphanet Journal of Rare Diseases, 2011 Objective To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA). Case report Two brothers are described who developed progressive cerebellar ataxia at 3 1/2 and 18 years, respectively.
Wanders Ronald J +4 more
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