Pathology of Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency Caused by the G1528C Mutation
Author:
Publisher
Informa UK Limited
Subject
Pathology and Forensic Medicine,Pediatrics, Perinatology and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.1080/15513819709168585
Reference46 articles.
1. Human liver long-chain 3-hydroxyacyl-coenzyme a dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria
2. Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein.
3. Structural Analysis of cDNAs for Subunits of Human Mitochondrial Fatty Acid β-Oxidation Trifunctional Protein
4. Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
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1. A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;Communications Biology;2023-08-29
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3. Recent Advances in the Pathophysiology of Fatty Acid Oxidation Defects: Secondary Alterations of Bioenergetics and Mitochondrial Calcium Homeostasis Caused by the Accumulating Fatty Acids;Frontiers in Genetics;2020-11-27
4. Evidence that Oxidative Disbalance and Mitochondrial Dysfunction are Involved in the Pathophysiology of Fatty Acid Oxidation Disorders;Cellular and Molecular Neurobiology;2020-09-02
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