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Disorders of peroxisome biogenesis
Human Molecular Genetics, 1995The peroxisome is a ubiquitous, subcellular organelle containing more than 50 matrix enzymes that participate in a diverse array of metabolic pathways. Failure to assemble normal peroxisomes is the cellular hallmark of Zellweger syndrome and other human disorders of peroxisome biogenesis.
N, Braverman +3 more
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Molecular insights into peroxisome homeostasis and peroxisome biogenesis disorders
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2022Peroxisomes are single-membrane organelles essential for cell metabolism including the β-oxidation of fatty acids, synthesis of etherlipid plasmalogens, and redox homeostasis. Investigations into peroxisome biogenesis and the human peroxisome biogenesis disorders (PBDs) have identified 14 PEX genes encoding peroxins involved in peroxisome biogenesis ...
Yukio, Fujiki +3 more
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Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders
Molecular Genetics and Metabolism, 2023The peroxisome is an essential eukaryotic organelle with diverse metabolic functions. Inherited peroxisomal disorders are associated with a wide spectrum of clinical outcomes and are broadly divided into two classes, those impacting peroxisome biogenesis (PBD) and those impacting specific peroxisomal factors.
Wangler, Michael F. +7 more
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Peroxisome Biogenesis Disorders
Annual Review of Genomics and Human Genetics, 2003The peroxisome biogenesis disorders (PBDs) comprise 12 autosomal recessive complementation groups (CGs). The multisystem clinical phenotype varies widely in severity and results from disturbances in both development and metabolic homeostasis. Progress over the last several years has lead to identification of the genes responsible for all of these ...
Sabine, Weller +2 more
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Pharmacological induction of peroxisomes in peroxisome biogenesis disorders
Annals of Neurology, 2000Inherited aberrant peroxisome assembly results in a group of neurological diseases termed peroxisome biogenesis disorders (PBDs). PBDs include three major clinical phenotypes that represent a continuum of clinical features from the most severe form, Zellweger syndrome (ZS), through neonatal adrenoleukodystrophy (NALD) to the least severe form ...
Wei, H. +4 more
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Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders
Clinical Genetics, 2004The peroxisomal disorders represent a group of genetic diseases in humans in which there is an impairment in one or more peroxisomal functions. The peroxisomal disorders are usually subdivided into two subgroups including (i) the peroxisome biogenesis disorders (PBDs) and (ii) the single peroxisomal (enzyme‐) protein deficiencies.
R J A, Wanders, H R, Waterham
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Peroxisome Biogenesis and Molecular Defects in Peroxisome Assembly Disorders
Cell Biochemistry and Biophysics, 2000Peroxisome assembly in mammals requires more than 14 genes. So far, we have isolated seven complementation groups (CGs) of peroxisome biogenesis-defective Chinese hamster ovary (CHO) cell mutants, Z65, Z24/ZP107, ZP92, ZP105/ZP139, ZP109, ZP110, ZP114. Two peroxin cDNAs, PEX2 and PEX6, were first cloned by genetic phenotype-complementation assay using ...
Y, Fujiki +3 more
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Mouse Models for Peroxisome Biogenesis Disorders
Cell Biochemistry and Biophysics, 2000The gene knockout technology has been applied to generate mice lacking functional peroxisomes. These mice are a model for Zellweger syndrome and other peroxisome biogenesis disorders that are lethal in early life. Extensive biochemical, ultrastructural, and neurodevelopmental analyses indicate that the peroxisome deficient mice closely mimic the ...
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Peroxisomal biogenesis disorder biomarkers.
Clinical laboratory, 2011The pathological mechanisms underlying peroxisomal biogenesis disorders (PBD) are not fully understood and the available therapies are not sufficient. This stresses the importance of identifying biochemical markers that reflect the extent of peroxisomal dysfunction in plasma of PBD patients.Very long chain fatty acids VLCFAs, Phytanic acid ...
Wafaa, Ghoneim +2 more
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Peroxisome Biogenesis and Human Peroxisomal Disorders
Biochemical Society Transactions, 2000openaire +2 more sources