PMID: 11917157Mar 28, 2002Paper

Mouse models for disorders of mitochondrial fatty acid beta-oxidation

ILAR Journal
A Michele Schuler, Philip A Wood

Abstract

Mitochondrial beta-oxidation of fatty acids is vital for energy production in periods of fasting and other metabolic stress. Human patients have been identified with inherited disorders of mitochondrial beta-oxidation of fatty acids with enzyme deficiencies identified at many of the steps in this pathway. Although these patients exhibit a range of disease processes, Reye-like illness (hypoketotic-hypoglycemia, hyperammonemia and fatty liver) and cardiomyopathy are common findings. There have been several mouse models developed to aid in the study of these disease conditions. The characterized mouse models include inherited deficiencies of very long-chain acyl-CoA dehydrogenase, long-chain acyl-CoA dehydrogenase, short-chain acyl-CoA dehydrogenase, mitochondrial trifunctional protein-alpha, and medium-/short-chain hydroxyacyl-CoA dehydrogenase. Mouse mutants developed, but presently incompletely characterized as models, include carnitine palmitoyltransferase-1a and medium-chain acyl-CoA dehydrogenase deficiencies. In general, the mouse models of disorders of mitochondrial fatty acid beta-oxidation have shown clinical signs that include Reye-like syndrome and cardiomyopathy, and many are cold intolerant. It is expected that these...Continue Reading

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Citations

Jun 10, 2010·Journal of Inherited Metabolic Disease·Ute Spiekerkoetter, Philip A Wood
Sep 11, 2010·Journal of Inherited Metabolic Disease·Ute SpiekerkoetterBridget Wilcken
Feb 11, 2004·Prostaglandins, Leukotrienes, and Essential Fatty Acids·Simon Edward Olpin
Jul 25, 2009·Antioxidants & Redox Signaling·Rao Muralikrishna Adibhatla, James Franklin Hatcher
Jun 11, 2011·Pediatric Research·Nagham George Abd Al-Ahad SabbaghaYuan-Tsong Chen
Dec 3, 2014·The International Journal of Biochemistry & Cell Biology·Grant J LoganGeorge C Yeoh
Feb 12, 2013·American Journal of Physiology. Heart and Circulatory Physiology·David G CotterPeter A Crawford
Mar 8, 2013·Journal of Proteomics·Sutin KingtongClothilde Heude Berthelin
Jan 7, 2017·PLoS Neglected Tropical Diseases·Kevin J VogelMichael R Strand
May 4, 2007·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Kanji YamaguchiAnna Mae Diehl
May 7, 2008·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Hilde HerremaDirk-Jan Reijngoud
Apr 22, 2008·American Journal of Physiology. Heart and Circulatory Physiology·L LeatherburyC W Lo
Mar 23, 2004·The Journal of Biological Chemistry·Aparna VenkatramanShannon M Bailey
Jun 15, 2016·Birth Defects Research. Part A, Clinical and Molecular Teratology·Kersti K Linask, Mingda Han
Nov 1, 2003·American Journal of Physiology. Regulatory, Integrative and Comparative Physiology·Brenda K Smith RichardsJulia Volaufova
Aug 2, 2011·Journal of Proteomics·Jia GuoLaszlo Prokai

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