date: 2024-02-20T08:51:11Z
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pdf:docinfo:title: Monogenic Disorders of ROS Production and the Primary Anti-Oxidative Defense
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Keywords: oxidative stress; reactive oxygen species (ROS); cellular redox balance; monogenic disorder; inherited disease
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subject: Oxidative stress, characterized by an imbalance between the production of reactive oxygen species (ROS) and the cellular anti-oxidant defense mechanisms, plays a critical role in the pathogenesis of various human diseases. Redox metabolism, comprising a network of enzymes and genes, serves as a crucial regulator of ROS levels and maintains cellular homeostasis. This review provides an overview of the most important human genes encoding for proteins involved in ROS generation, ROS detoxification, and production of reduced nicotinamide adenine dinucleotide phosphate (NADPH), and the genetic disorders that lead to dysregulation of these vital processes. Insights gained from studies on inherited monogenic metabolic diseases provide valuable basic understanding of redox metabolism and signaling, and they also help to unravel the underlying pathomechanisms that contribute to prevalent chronic disorders like cardiovascular disease, neurodegeneration, and cancer.
dc:creator: Nana-Maria Grüning and Markus Ralser
dcterms:created: 2024-02-20T08:20:55Z
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title: Monogenic Disorders of ROS Production and the Primary Anti-Oxidative Defense
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pdf:docinfo:keywords: oxidative stress; reactive oxygen species (ROS); cellular redox balance; monogenic disorder; inherited disease
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dc:title: Monogenic Disorders of ROS Production and the Primary Anti-Oxidative Defense
modified: 2024-02-20T08:51:11Z
cp:subject: Oxidative stress, characterized by an imbalance between the production of reactive oxygen species (ROS) and the cellular anti-oxidant defense mechanisms, plays a critical role in the pathogenesis of various human diseases. Redox metabolism, comprising a network of enzymes and genes, serves as a crucial regulator of ROS levels and maintains cellular homeostasis. This review provides an overview of the most important human genes encoding for proteins involved in ROS generation, ROS detoxification, and production of reduced nicotinamide adenine dinucleotide phosphate (NADPH), and the genetic disorders that lead to dysregulation of these vital processes. Insights gained from studies on inherited monogenic metabolic diseases provide valuable basic understanding of redox metabolism and signaling, and they also help to unravel the underlying pathomechanisms that contribute to prevalent chronic disorders like cardiovascular disease, neurodegeneration, and cancer.
pdf:docinfo:subject: Oxidative stress, characterized by an imbalance between the production of reactive oxygen species (ROS) and the cellular anti-oxidant defense mechanisms, plays a critical role in the pathogenesis of various human diseases. Redox metabolism, comprising a network of enzymes and genes, serves as a crucial regulator of ROS levels and maintains cellular homeostasis. This review provides an overview of the most important human genes encoding for proteins involved in ROS generation, ROS detoxification, and production of reduced nicotinamide adenine dinucleotide phosphate (NADPH), and the genetic disorders that lead to dysregulation of these vital processes. Insights gained from studies on inherited monogenic metabolic diseases provide valuable basic understanding of redox metabolism and signaling, and they also help to unravel the underlying pathomechanisms that contribute to prevalent chronic disorders like cardiovascular disease, neurodegeneration, and cancer.
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pdf:docinfo:creator: Nana-Maria Grüning and Markus Ralser
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creator: Nana-Maria Grüning and Markus Ralser
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dc:subject: oxidative stress; reactive oxygen species (ROS); cellular redox balance; monogenic disorder; inherited disease
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Author: Nana-Maria Grüning and Markus Ralser
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