Embryonic Lethality of Mitochondrial Pyruvate Carrier 1 Deficient Mouse Can Be Rescued by a Ketogenic Diet

CDL Folmes, 2012, Metabolic Plasticity in Stem Cell Homeostasis and Differentiation, Cell Stem Cell, 11, 596, 10.1016/j.stem.2012.10.002

MG Vander Heiden, 2009, Understanding the Warburg Effect: The Metabolic Requirements of Cell Proliferation, Science, 324, 1029, 10.1126/science.1160809

JR Hom, 2011, The permeability transition pore controls cardiac mitochondrial maturation and myocyte differentiation, Dev Cell, 21, 469, 10.1016/j.devcel.2011.08.008

M Agathocleous, 2012, Metabolic differentiation in the embryonic retina, Nat Cell Biol, 14, 859, 10.1038/ncb2531

R Benz, 1994, Permeation of hydrophilic solutes through mitochondrial outer membranes: review on mitochondrial porins, Biochim Biophys Acta, 1197, 167, 10.1016/0304-4157(94)90004-3

S Papa, 1971, The transport of pyruvate in rat liver mitochondria, FEBS Lett, 12, 285, 10.1016/0014-5793(71)80200-4

AP Halestrap, 1974, Specific inhibition of pyruvate transport in rat liver mitochondria and human erythrocytes by α-cyano-4-hydroxycinnamate (Short Communication), Biochem J, 138, 313, 10.1042/bj1380313

AP Halestrap, 1975, The mitochondrial pyruvate carrier. Kinetics and specificity for substrates and inhibitors, Biochem J, 148, 85, 10.1042/bj1480085

S Herzig, 2012, Identification and functional expression of the mitochondrial pyruvate carrier, Science, 337, 93, 10.1126/science.1218530

D Bricker, 2012, A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans, Science, 337, 96, 10.1126/science.1218099

T Bender, 2015, Regulation of mitochondrial pyruvate uptake by alternative pyruvate carrier complexes, EMBO J, 34, 911, 10.15252/embj.201490197

NM Vacanti, 2014, Regulation of substrate utilization by the mitochondrial pyruvate carrier, Mol Cell, 56, 425, 10.1016/j.molcel.2014.09.024

C Yang, 2014, Glutamine oxidation maintains the TCA cycle and cell survival during impaired mitochondrial pyruvate transport, Mol Cell, 56, 414, 10.1016/j.molcel.2014.09.025

ML Eboli, 1977, Pyruvate transport in tumour-cell mitochondria, Biochim Biophys Acta BBA—Bioenerg, 460, 183, 10.1016/0005-2728(77)90166-9

G Paradies, 1983, Transport of pyruvate in mitochondria from different tumor cells, Cancer Res, 43, 5068

JC Schell, 2014, A role for the mitochondrial pyruvate carrier as a repressor of the Warburg effect and colon cancer cell growth, Mol Cell, 56, 400, 10.1016/j.molcel.2014.09.026

PA Vigueira, 2014, Mitochondrial pyruvate carrier 2 hypomorphism in mice leads to defects in glucose-stimulated insulin secretion, Cell Rep, 7, 2042, 10.1016/j.celrep.2014.05.017

LR Gray, 2015, Hepatic Mitochondrial Pyruvate Carrier 1 Is Required for Efficient Regulation of Gluconeogenesis and Whole-Body Glucose Homeostasis, Cell Metab, 22, 669, 10.1016/j.cmet.2015.07.027

KS McCommis, 2015, Loss of Mitochondrial Pyruvate Carrier 2 in the Liver Leads to Defects in Gluconeogenesis and Compensation via Pyruvate-Alanine Cycling, Cell Metab, 22, 682, 10.1016/j.cmet.2015.07.028

JN Patterson, 2014, Mitochondrial metabolism of pyruvate is essential for regulating glucose-stimulated insulin secretion, J Biol Chem, 289, 13335, 10.1074/jbc.M113.521666

AS Divakaruni, 2013, Thiazolidinediones are acute, specific inhibitors of the mitochondrial pyruvate carrier, Proc Natl Acad Sci U S A, 110, 5422, 10.1073/pnas.1303360110

PW Stacpoole, 1989, The pharmacology of dichloroacetate, Metabolism, 38, 1124, 10.1016/0026-0495(89)90051-6

JR Colca, 2013, Identification of a mitochondrial target of thiazolidinedione insulin sensitizers (mTOT)—relationship to newly identified mitochondrial pyruvate carrier proteins, PloS One, 8, 10.1371/journal.pone.0061551

KP Patel, 2012, The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients, Mol Genet Metab, 105, 34, 10.1016/j.ymgme.2011.09.032

A Imbard, 2011, Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein, Mol Genet Metab, 104, 507, 10.1016/j.ymgme.2011.08.008

C Prasad, 2011, Pyruvate dehydrogenase deficiency and epilepsy, Brain Dev, 33, 856, 10.1016/j.braindev.2011.08.003

LR Gray, 2014, Regulation of pyruvate metabolism and human disease, Cell Mol Life Sci CMLS, 71, 2577, 10.1007/s00018-013-1539-2

RM Zelle, 2011, Anaplerotic role for cytosolic malic enzyme in engineered Saccharomyces cerevisiae strains, Appl Environ Microbiol, 77, 732, 10.1128/AEM.02132-10

M Johnson, 2001, Inactivation of the murine pyruvate dehydrogenase (Pdha1) gene and its effect on early embryonic development, Mol Genet Metab, 74, 293, 10.1006/mgme.2001.3249

M Brivet, 2003, Impaired mitochondrial pyruvate importation in a patient and a fetus at risk, Mol Genet Metab, 78, 186, 10.1016/S1096-7192(03)00016-7

DM Sproule, 2008, Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes, Ann N Y Acad Sci, 1142, 133, 10.1196/annals.1444.011

JA Kraut, 2014, Lactic Acidosis, N Engl J Med, 371, 2309, 10.1056/NEJMra1309483

L Pliss, 2004, Biochemical and structural brain alterations in female mice with cerebral pyruvate dehydrogenase deficiency, J Neurochem, 91, 1082, 10.1111/j.1471-4159.2004.02790.x

MR Taylor, 2004, A zebrafish model for pyruvate dehydrogenase deficiency: rescue of neurological dysfunction and embryonic lethality using a ketogenic diet, Proc Natl Acad Sci U S A, 101, 4584, 10.1073/pnas.0307074101

TA Lusardi, 2015, Ketogenic diet prevents epileptogenesis and disease progression in adult mice and rats, Neuropharmacology, 99, 500, 10.1016/j.neuropharm.2015.08.007

J Chen, 2015, A GABAergic projection from the zona incerta to cortex promotes cortical neuron development, Science, 350, 554, 10.1126/science.aac6472

A Efeyan, 2013, Regulation of mTORC1 by the Rag GTPases is necessary for neonatal autophagy and survival, Nature, 493, 679, 10.1038/nature11745

J Xu, 2005, Preparation, culture, and immortalization of mouse embryonic fibroblasts, Curr Protoc Mol Biol Ed Frederick M Ausubel Al, 10.1002/0471142727.mb2801s70

V Compan, 2015, Monitoring Mitochondrial Pyruvate Carrier Activity in Real Time Using a BRET-Based Biosensor: Investigation of the Warburg Effect, Mol Cell, 59, 10.1016/j.molcel.2015.06.035

L Wu, 2005, Quantitative analysis of the microbial metabolome by isotope dilution mass spectrometry using uniformly 13C-labeled cell extracts as internal standards, Anal Biochem, 336, 164, 10.1016/j.ab.2004.09.001

M Zimmermann, 2014, Quantification and mass isotopomer profiling of α-keto acids in central carbon metabolism, Anal Chem, 86, 3232, 10.1021/ac500472c

JM Buescher, 2010, Ultrahigh performance liquid chromatography-tandem mass spectrometry method for fast and robust quantification of anionic and aromatic metabolites, Anal Chem, 82, 4403, 10.1021/ac100101d

M Rühl, 2012, Collisional fragmentation of central carbon metabolites in LC-MS/MS increases precision of ¹³C metabolic flux analysis, Biotechnol Bioeng, 109, 763, 10.1002/bit.24344

A Nanchen, 2007, Determination of metabolic flux ratios from 13C-experiments and gas chromatography-mass spectrometry data: protocol and principles, Methods Mol Biol Clifton NJ, 358, 177, 10.1007/978-1-59745-244-1_11

J Yuan, 2006, Kinetic flux profiling of nitrogen assimilation in Escherichia coli, Nat Chem Biol, 2, 529, 10.1038/nchembio816

T Fuhrer, 2011, High-throughput, accurate mass metabolome profiling of cellular extracts by flow injection-time-of-flight mass spectrometry, Anal Chem, 83, 7074, 10.1021/ac201267k

JD Storey, 2003, Statistical significance for genomewide studies, Proc Natl Acad Sci U S A, 100, 9440, 10.1073/pnas.1530509100

CM Metallo, 2012, Reductive glutamine metabolism by IDH1 mediates lipogenesis under hypoxia, Nature, 481, 380, 10.1038/nature10602