Results 161 to 170 of about 4,693,382 (193)
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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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Microscopy Research and Technique, 2003
AbstractPeroxisomes are single membrane‐bound cell organelles performing numerous metabolic functions. The present article aims to give an overview of our current knowledge about inherited peroxisomal disorders in which these organelles are lacking or one or more of their functions are impaired.
Marianne, Depreter +2 more
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AbstractPeroxisomes are single membrane‐bound cell organelles performing numerous metabolic functions. The present article aims to give an overview of our current knowledge about inherited peroxisomal disorders in which these organelles are lacking or one or more of their functions are impaired.
Marianne, Depreter +2 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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Metabolic Aspects of Peroxisomal Disorders
Annals of the New York Academy of Sciences, 1996In recent years an increasing number of inherited diseases in man have been identified in which there is an impairment in one or more peroxisomal functions. This paper discusses the current state of knowledge on these disorders with particular emphasis on the metabolic abnormalities in these diseases.
Wanders, R. J. +5 more
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Peroxisomes, lipid metabolism, and peroxisomal disorders
Molecular Genetics and Metabolism, 2004Peroxisomes catalyse a large variety of different cellular functions of which most have to do with lipid metabolism. This paper deals with the role of peroxisomes in three key pathways of lipid metabolism, including: (1) etherphospholipid biosynthesis, (2) fatty acid beta-oxidation, and (3) fatty acid alpha-oxidation.
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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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American Journal of Diseases of Children, 1993
The peroxisomal disorders represent a group of inherited metabolic disorders that derive from defects of peroxisomal biogenesis and/or from dysfunction of single or multiple peroxisomal enzymes. Because peroxisomes are involved in the metabolism of lipids critical to the functioning of the nervous system, many of the peroxisomal disorders manifest with
F R, Brown +3 more
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The peroxisomal disorders represent a group of inherited metabolic disorders that derive from defects of peroxisomal biogenesis and/or from dysfunction of single or multiple peroxisomal enzymes. Because peroxisomes are involved in the metabolism of lipids critical to the functioning of the nervous system, many of the peroxisomal disorders manifest with
F R, Brown +3 more
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2012
Abstract Peroxisomes are essential organelles for normal cellular function and are responsible for performing over 50 metabolic reactions, most of which consume or generate molecular oxygen. They are highly versatile, with both anabolic and catabolic functions, many of which are induced only under appropriate conditions.
Mark E. Pennesi, Richard G. Weleber
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Abstract Peroxisomes are essential organelles for normal cellular function and are responsible for performing over 50 metabolic reactions, most of which consume or generate molecular oxygen. They are highly versatile, with both anabolic and catabolic functions, many of which are induced only under appropriate conditions.
Mark E. Pennesi, Richard G. Weleber
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2016
Peroxisomal disorders represent a group of disorders in which there is an impairment in one or more peroxisomal functions. Clinically, a dysfunction of peroxisomes results in most cases in neurologic symptoms of varying extent ranging from severe neurologic symptoms in children to late-onset disease in adults.
Bwee Tien Poll-The +2 more
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Peroxisomal disorders represent a group of disorders in which there is an impairment in one or more peroxisomal functions. Clinically, a dysfunction of peroxisomes results in most cases in neurologic symptoms of varying extent ranging from severe neurologic symptoms in children to late-onset disease in adults.
Bwee Tien Poll-The +2 more
exaly +2 more sources