A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

作者: Marie-Ève Rivard , Florin Sasarman , Eric A. Shoubridge , Jessica Tardif , Julie Thompson Legault

DOI: 10.1016/J.CELREP.2015.09.054

关键词:

摘要: … markers of mitochondrial metabolic dysfunction (lactate and acylcarnitines), as well as unexpected markers of … can lie downstream of primary mitochondrial lesions, with implications for …

参考文章(74)
R Paxton, P W Scislowski, E J Davis, R A Harris, Role of branched-chain 2-oxo acid dehydrogenase and pyruvate dehydrogenase in 2-oxobutyrate metabolism Biochemical Journal. ,vol. 234, pp. 295- 303 ,(1986) , 10.1042/BJ2340295
Laframboise R, Merante F, Morin C, Robinson Bh, MacKay N, Lambert M, De Braekeleer M, Gagné R, Petrova-Benedict R, Mitchell G, A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec. American Journal of Human Genetics. ,vol. 53, pp. 481- 487 ,(1993)
S. B. ROSALKI, J. H. WILKINSON, Reduction of α-Ketobutyrate by Human Serum Nature. ,vol. 188, pp. 1110- 1111 ,(1960) , 10.1038/1881110A0
J. Finsterer, C. Jarius, H. Eichberger, M. Jaksch, Phenotype variability in 130 adult patients with respiratory chain disorders. Journal of Inherited Metabolic Disease. ,vol. 24, pp. 560- 576 ,(2001) , 10.1023/A:1012415810881
C Morin, B H Robinson, J Larochelle, M Lambert, M De Braekeleer, H Ogier, G Mitchell, Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean. American Journal of Human Genetics. ,vol. 53, pp. 488- 496 ,(1993)
Michael A. Zulyniak, Jessica C. Ralston, Amy J. Tucker, Kathy A. MacKay, Lyn M. Hillyer, Paul D. McNicholas, Terry E. Graham, Lindsay E. Robinson, Alison M. Duncan, David W.L. Ma, David M. Mutch, Vaccenic acid in serum triglycerides is associated with markers of insulin resistance in men. Applied Physiology, Nutrition, and Metabolism. ,vol. 37, pp. 1003- 1007 ,(2012) , 10.1139/H2012-081
Robert D. Steele, Helen Weber, Jill I. Patterson, Characterization of α-Ketobutyrate Metabolism in Rat Tissues: Effects of Dietary Protein and Fasting Journal of Nutrition. ,vol. 114, pp. 701- 710 ,(1984) , 10.1093/JN/114.4.701
Zhang Lin, Carlos M Vicente Gonçalves, Ling Dai, Hong-mei Lu, Jian-hua Huang, Hongchao Ji, Dong-sheng Wang, Lun-zhao Yi, Yi-zeng Liang, None, Exploring metabolic syndrome serum profiling based on gas chromatography mass spectrometry and random forest models. Analytica Chimica Acta. ,vol. 827, pp. 22- 27 ,(2014) , 10.1016/J.ACA.2014.04.008
Scott B. Vafai, Vamsi K. Mootha, Mitochondrial disorders as windows into an ancient organelle Nature. ,vol. 491, pp. 374- 383 ,(2012) , 10.1038/NATURE11707