Results 161 to 170 of about 1,135,071 (192)

Disorders of peroxisome biogenesis

Human Molecular Genetics, 1995
The 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, G, Dodt, S J, Gould, D, Valle   +3 more
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Molecular insights into peroxisome homeostasis and peroxisome biogenesis disorders

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2022
Peroxisomes 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, Kanji, Okumoto, Masanori, Honsho, Yuichi, Abe   +3 more
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Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders

Molecular Genetics and Metabolism, 2023
The 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., Lesko, Barbara, Dahal, Rejwi, Jangam, Sharayu, Bhadane, Pradnya, Wilson, Theodore E., McPheron, Molly, Miller, Marcus J.   +7 more
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Peroxisome Biogenesis Disorders

Annual Review of Genomics and Human Genetics, 2003
The 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, Stephen J, Gould, David, Valle   +2 more
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Pharmacological induction of peroxisomes in peroxisome biogenesis disorders

Annals of Neurology, 2000
Inherited 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., Kemp, S., McGuinness, M. C., Moser, A. B., Smith, K. D.   +4 more
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Therapeutic developments in peroxisome biogenesis disorders

Expert Opinion on Investigational Drugs, 2000
Clinically, peroxisome biogenesis disorders (PBDs) are a group of lethal diseases with a continuum of severity of clinical symptoms ranging from the most severe form, Zellweger syndrome, to the milder forms, infantile Refsum disease and rhizomelic chondrodysplasia punctata.
M C, McGuinness, H, Wei, K D, Smith
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Peroxisome Biogenesis and Molecular Defects in Peroxisome Assembly Disorders

Cell Biochemistry and Biophysics, 2000
Peroxisome 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, K, Okumoto, H, Otera, S, Tamura   +3 more
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Mouse Models for Peroxisome Biogenesis Disorders

Cell Biochemistry and Biophysics, 2000
The 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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Zellweger syndrome — a lethal peroxisome biogenesis disorder

Journal of Pediatric Endocrinology and Metabolism, 2013
Zellweger syndrome (ZS) is the severest variety of peroxisomal biogenesis disorder (PBD). This is a fatal hereditary, autosomal recessive disorder. It is characterized by the absence of peroxisomes in the cells which are essential for many metabolic functions especially beta oxidation of very long chain fatty acids (VLCFAs).
Muhammad, Rafique, Shumaila, Zia, Muhammad Nasir, Rana, Ossama A, Mostafa   +3 more
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Peroxisomal biogenesis disorder biomarkers.

Clinical laboratory, 2011
The 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, Hala T, El-Bassyouni, Soheir A, Abdel Maksoud   +2 more
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