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Probing pyruvate metabolism in normal and mutant fibroblast cell lines using 13C-labeled mass isotopomer analysis and mass spectrometry.

Molecular genetics and metabolism - 1 Dec 2009

Riazi Roya, Khairallah Maya, Cameron Jessie M, Pencharz Paul B, Des Rosiers Christine, Robinson Brian H

Abstract excerpt

Fibroblast cell lines are frequently used to diagnose genetic mitochondrial defects in children. The effect of enzyme deficiency on overall flux rate through metabolic pathways is, however, not generally considered. We have transposed an experimental paradigm that was developed for isolated perfused organs using (13)C-labeled substrates and (13)C-isotopomer analysis to probe pyruvate mitochondrial metabolism in...

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PMID: 19640754
DOI: 10.1016/j.ymgme.2009.06.015

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