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1. Full Text Decreased carbon shunting from glucose toward oxidative metabolism in diet‐induced ketotic rat brain
by Zhang, Yifan and Zhang, Shenghui and Marin‐Valencia, Isaac and Puchowicz, Michelle A
Journal of Neurochemistry, ISSN 0022-3042, 02/2015, Volume 132, Issue 3, pp. 301 - 312
The mechanistic link of ketosis to neuroprotection under certain pathological conditions continues to be explored. We investigated whether chronic ketosis... 
oxidative metabolism | GABA | citric acid cycle | glucose | ketone bodies | brain amino acids | BETA-HYDROXYBUTYRATE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MASS ISOTOPOMER ANALYSIS | KETOGENIC DIET | CEREBRAL METABOLISM | NEUROSCIENCES | AMINO-ACID-METABOLISM | KETONE-BODIES | GLUTAMATE | IN-VIVO | C-13 NMR | KETOSIS | Carbon - metabolism | Oxidation-Reduction | Rats, Wistar | Diet, Ketogenic | Ketone Bodies - metabolism | Propionic Acidemia - metabolism | Rats | Male | Animals | Energy Metabolism | gamma-Aminobutyric Acid - biosynthesis | Acetoacetates - metabolism | Glucose - metabolism | Brain Chemistry | Physiological aspects | Brain | Glucose | Dextrose | Citric acid | Neurochemistry | Amino acids | Metabolism | Rodents | Index Medicus
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2. Full Text 2-Hydroxyglutarate detection by magnetic resonance spectroscopy in IDH-mutated patients with gliomas
by Choi, Changho and Ganji, Sandeep K and DeBerardinis, Ralph J and Hatanpaa, Kimmo J and Rakheja, Dinesh and Kovacs, Zoltan and Yang, Xiao-Li and Mashimo, Tomoyuki and Raisanen, Jack M and Marin-Valencia, Isaac and Pascual, Juan M and Madden, Christopher J and Mickey, Bruce E and Malloy, Craig R and Bachoo, Robert M and Maher, Elizabeth A
Nature Medicine, ISSN 1078-8956, 04/2012, Volume 18, Issue 4, pp. 624 - 629
Mutations in isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) have been shown to be present in most World Health Organization grade 2 and grade 3 gliomas in... 
Choline - metabolism | Magnetic Resonance Spectroscopy | Glutarates | Humans | Brain - enzymology | Brain Neoplasms - genetics | Isocitrate Dehydrogenase - genetics | Male | Statistics as Topic | Mutation - genetics | Brain Neoplasms - metabolism | Glioma - metabolism | Glioma - genetics | Algorithms | Creatine - metabolism | Brain Mapping | Aspartic Acid - metabolism | Female | Aspartic Acid - analogs & derivatives | Enzymes | Medical imaging | Mutation | Gene expression | Brain cancer | Spectrum analysis | Index Medicus
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3. Full Text Metabolism of [U‐13C]glucose in human brain tumors in vivo
by Maher, Elizabeth A and Marin‐Valencia, Isaac and Bachoo, Robert M and Mashimo, Tomoyuki and Raisanen, Jack and Hatanpaa, Kimmo J and Jindal, Ashish and Jeffrey, F. Mark and Choi, Changho and Madden, Christopher and Mathews, Dana and Pascual, Juan M and Mickey, Bruce E and Malloy, Craig R and DeBerardinis, Ralph J
NMR in Biomedicine, ISSN 0952-3480, 11/2012, Volume 25, Issue 11, pp. 1234 - 1244
Glioblastomas and brain metastases demonstrate avid uptake of 2‐[ 18 F]fluoro‐2‐deoxyglucose by positron emission tomography and display perturbations of... 
glucose | NMR | glioblastoma | cancer | metabolism | glutamine | Warburg effect | Glioblastoma | Glucose | Metabolism | Cancer | Glutamine | PATHWAYS | GLIOMA | FLUX | CELL-GROWTH | GLYCOLYSIS | BIOPHYSICS | SPECTROSCOPY | TRICARBOXYLIC-ACID CYCLE | LACTATE | MUTATIONS | C-13 NMR | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Carcinoma, Non-Small-Cell Lung - pathology | Oxidation-Reduction | Humans | Glioblastoma - blood | Carbon Isotopes | Glycine - biosynthesis | Acetyl Coenzyme A - metabolism | Brain Neoplasms - metabolism | Citric Acid Cycle | Brain Neoplasms - secondary | Breast Neoplasms - pathology | Brain Neoplasms - blood | Glucose - metabolism | Glycolysis | Female | Glioblastoma - metabolism | Blood Glucose - metabolism | Lactates | Glucose metabolism | Brain | Metabolites | Analysis | Brain tumors | Physiological aspects | Nuclear magnetic resonance spectroscopy | Dextrose | Index Medicus | Amino acids
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4. Full Text Measurement of 13C turnover into glutamate and glutamine pools in brain tumor patients
by Pichumani, Kumar and Mashimo, Tomoyuki and Vemireddy, Vamsidhara and Ijare, Omkar B and Mickey, Bruce E and Malloy, Craig R and Marin‐Valencia, Isaac and Baskin, David S and Bachoo, Robert M and Maher, Elizabeth A
FEBS Letters, ISSN 0014-5793, 11/2017, Volume 591, Issue 21, pp. 3548 - 3554
Malignant brain tumors are known to utilize acetate as an alternate carbon source in the citric acid cycle for their bioenergetics. 13 C NMR ‐based isotopomer... 
13 | 1,2 | C isotopomer | glutamate and glutamine synthesis | acetyl‐CoA | peripheral metabolism | C]acetate | acetyl-CoA | [1,2-13C]acetate | 13C isotopomer
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5. Full Text The ratio of acetate‐to‐glucose oxidation in astrocytes from a single 13C NMR spectrum of cerebral cortex
by Marin‐Valencia, Isaac and Hooshyar, M. Ali and Pichumani, Kumar and Sherry, A. Dean and Malloy, Craig R
Journal of Neurochemistry, ISSN 0022-3042, 01/2015, Volume 132, Issue 1, pp. 99 - 109
The 13 C‐labeling patterns in glutamate and glutamine from brain tissue are quite different after infusion of a mixture of 13 C‐enriched glucose and acetate.... 
acetate | neuron | glucose | glia | Cerebral Cortex - chemistry | Magnetic Resonance Spectroscopy | Neurons - chemistry | Oxidation-Reduction | Acetates - metabolism | Mice, Inbred C57BL | Glutamine - metabolism | Cerebral Cortex - cytology | Acetyl Coenzyme A - metabolism | Cerebral Cortex - metabolism | Animals | Astrocytes - chemistry | Glucose - metabolism | Female | Glutamic Acid - metabolism | Mice | Neurons - metabolism | Ketoglutaric Acids - metabolism | Astrocytes - metabolism | Glucose metabolism | Brain | Analysis | Oxidation-reduction reaction | Nuclear magnetic resonance spectroscopy | Glucose | Glutamate | Dextrose | Glutamine | Neurochemistry | Neurotransmitters | Nuclear magnetic resonance--NMR | Index Medicus
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6. Full Text PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive
by Zaki, Maha S and Bhat, Gifty and Sultan, Tipu and Issa, Mahmoud and Jung, Hea‐Jin and Dikoglu, Esra and Selim, Laila and G. Mahmoud, Imam and Abdel‐Hamid, Mohamed S and Abdel‐Salam, Ghada and Marin‐Valencia, Isaac and Gleeson, Joseph G
Annals of Neurology, ISSN 0364-5134, 07/2016, Volume 80, Issue 1, pp. 59 - 70
Objective: A study was undertaken to characterize the clinical features of the newly described hypomyelinating leukodystrophy type 10 with microcephaly. This... 
SYNTHASE | CUTIS LAXA | GENE | MOUSE | LEUKODYSTROPHIES | SPECTRUM | PROLINE | EXPRESSION | NEUROSCIENCES | CLINICAL NEUROLOGY | PYRROLINE-5-CARBOXYLATE REDUCTASE | Microcephaly - genetics | Humans | Failure to Thrive - complications | Child, Preschool | Infant | Male | Mutation, Missense | Young Adult | Transfection | Fibroblasts | Female | Child | Pyrroline Carboxylate Reductases - biosynthesis | Gene Expression | Genetic Predisposition to Disease - genetics | Microcephaly - complications | Failure to Thrive - genetics | Microcephaly - diagnosis | Genotype | Codon, Nonsense | Pyrroline Carboxylate Reductases - genetics | Syndrome | Exome - genetics | Phenotype | Adolescent | Primary Cell Culture | Proteins | Mutation | Index Medicus | microcephaly | PYCR2 | proline metabolism | pyrroline-5-carboxylate reductase 2 | brain atrophy | hypomyelinating leukodystrophy-10
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7. Full Text Glucose metabolism via the pentose phosphate pathway, glycolysis and Krebs cycle in an orthotopic mouse model of human brain tumors
by Marin‐Valencia, Isaac and Cho, Steve K and Rakheja, Dinesh and Hatanpaa, Kimmo J and Kapur, Payal and Mashimo, Tomoyuki and Jindal, Ashish and Vemireddy, Vamsidhara and Good, Levi B and Raisanen, Jack and Sun, Xiankai and Mickey, Bruce and Choi, Changho and Takahashi, Masaya and Togao, Osamu and Pascual, Juan M and DeBerardinis, Ralph J and Maher, Elizabeth A and Malloy, Craig R and Bachoo, Robert M
NMR in Biomedicine, ISSN 0952-3480, 10/2012, Volume 25, Issue 10, pp. 1177 - 1186
It has been hypothesized that increased flux through the pentose phosphate pathway (PPP) is required to support the metabolic demands of rapid malignant cell... 
C NMR | renal cell carcinoma | glioblastoma | mouse model | brain | intermediary metabolism | Brain | Mouse model | Intermediary metabolism | Renal cell carcinoma | Glioblastoma | QUANTITATION | INJURY | CELL PROLIFERATION | FLUX | 13C NMR | CEREBRAL METABOLISM | BIOPHYSICS | ERYTHROCYTES | SPECTROSCOPY | GROWTH | LIVER | C-13 NMR | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Carcinoma, Renal Cell - pathology | gamma-Aminobutyric Acid - metabolism | Brain Neoplasms - diagnostic imaging | Humans | Lactic Acid - metabolism | Positron-Emission Tomography | Brain Neoplasms - metabolism | Citric Acid Cycle | Xenograft Model Antitumor Assays | Magnetic Resonance Imaging | Brain Neoplasms - secondary | Glioblastoma - diagnostic imaging | Animals | Kidney Neoplasms - enzymology | Glucose - metabolism | Glutamate Decarboxylase - metabolism | Glycolysis | Carcinoma, Renal Cell - enzymology | Glioblastoma - metabolism | Kidney Neoplasms - pathology | Glutamic Acid - metabolism | Mice | Pentose Phosphate Pathway | Disease Models, Animal | Phosphates | Oncology, Experimental | Brain tumors | Glutamate decarboxylase | Metastasis | Glucose | Research | Glutamate | Cells | Dextrose | Lactates | Glucose metabolism | Physiological aspects | GABA | Cancer | Public-private sector cooperation | Index Medicus | Animal models
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8. Full Text Heptanoate as a Neural Fuel: Energetic and Neurotransmitter Precursors in Normal and Glucose Transporter I-Deficient (G1D) Brain
by Marin-Valencia, Isaac and Good, Levi B and Ma, Qian and Malloy, Craig R and Pascual, Juan M
Journal of Cerebral Blood Flow & Metabolism, ISSN 0271-678X, 2/2013, Volume 33, Issue 2, pp. 175 - 182
It has been postulated that triheptanoin can ameliorate seizures by supplying the tricarboxylic acid cycle with both acetyl-CoA for energy production and... 
glucose | glutamine | nuclear magnetic resonance | transporter | ANAPLEROTIC DIET THERAPY | GLUT1 DEFICIENCY | KETOGENIC DIET | NEUROSCIENCES | HAPLOINSUFFICIENCY | ENTERAL METABOLISM | TRIHEPTANOIN | MOUSE MODEL | DISEASE | ENDOCRINOLOGY & METABOLISM | GLUTAMINE-SYNTHETASE | RAT-BRAIN | HEMATOLOGY | Brain Chemistry - drug effects | Heptanoates - pharmacology | Seizures - genetics | Magnetic Resonance Spectroscopy | Seizures - drug therapy | Glutamine - metabolism | Acetyl Coenzyme A - genetics | Glucose - genetics | Glucose Transporter Type 1 | Mice, Transgenic | Seizures - metabolism | Anticonvulsants - pharmacology | Acetyl Coenzyme A - metabolism | Brain - metabolism | Heptanoates - metabolism | Animals | Energy Metabolism | Glutamine - genetics | Glucose - metabolism | Pyruvic Acid - metabolism | Mice | Triglycerides - pharmacology | Brain Chemistry - genetics | Index Medicus | Glucose transporter | Tricarboxylic acid cycle | Brain | Energy metabolism | Ketogenesis | Mass spectroscopy | Pyruvic acid | Fuels | ketones | Magnetic resonance spectroscopy | Gas chromatography | Glucose metabolism | Neurotransmitters | Spectrometry | Motivation | Cerebral blood flow | Neural stem cells | Glutamine | Seizures | Original
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9. Full Text Decreased carbon shunting from glucose towards oxidative metabolism in diet-induced ketotic rat brain
by Zhang, Yifan and Zhang, Shenghui and Marin-Valencia, Isaac and Puchowicz, Michelle A
Journal of neurochemistry, ISSN 0022-3042, 2/2015, Volume 132, Issue 3, pp. 301 - 312
The mechanistic link of ketosis to neuroprotection under certain pathological conditions continues to be explored. We investigated whether chronic ketosis... 
oxidative metabolism | GABA | glucose | citric acid cycle | Ketone bodies | brain amino acids
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10. Full Text 2-hydroxyglutarate detection by magnetic resonance spectroscopy in subjects with IDH-mutated gliomas
by Choi, C and Ganji, SK and DeBerardinis, RJ and Hatanpaa, KJ and Rakheja, D and Kovacs, Z and Yang, XL and Mashimo, T and Raisanen, JM and Marin-Valencia, I and Pascual, JM and Madden, CJ and Mickey, BE and Malloy, CR and Bachoo, RM and Maher, EA
NATURE MEDICINE, ISSN 1078-8956, 04/2012, Volume 18, Issue 4, pp. 624 - 629
Mutations in isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) have been shown to be present in most World Health Organization grade 2 and grade 3 gliomas in... 
MEDICINE, RESEARCH & EXPERIMENTAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | PROTON | BRAIN-METABOLITES | H-1 | TUMORS | METABOLITE QUANTIFICATION | CELL BIOLOGY | NMR-SPECTRA | ACIDURIA | RELAXATION-TIMES | MUTATIONS | WATER | Care and treatment | Usage | Gene mutations | Magnetic resonance imaging | Gliomas | Physiological aspects | Genetic aspects | Diagnosis
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11. Full Text Thiamine Deficiency Secondary to Anorexia Nervosa: An Uncommon Cause of Peripheral Neuropathy and Wernicke Encephalopathy in Adolescence
by Renthal, William, MD, PhD and Marin-Valencia, Isaac, MD and Evans, Patricia A., MD, PhD
Pediatric Neurology, ISSN 0887-8994, 2014, Volume 51, Issue 1, pp. 100 - 103
Abstract Introduction We present a developmentally appropriate adolescent boy who presented with upper and lower extremity glove-and-stocking paresthesias,... 
Pediatrics | Neurology | thiamine | paresthesias | Wernicke encephalopathy | anorexia nervosa | peripheral polyneuropathy | dry beriberi | SURGERY | CLINICAL NEUROLOGY | OBESITY | METABOLISM | DISEASE | PEDIATRICS | PATIENT | Peripheral Nervous System Diseases - etiology | Magnetic Resonance Imaging | Wernicke Encephalopathy - etiology | Mammillary Bodies - pathology | Humans | Adolescent | Male | Anorexia Nervosa - complications | Thiamine - blood | Thiamine Deficiency - complications | Extremities - physiopathology | Adolescence | Pyrimidines | Anorexia nervosa | Index Medicus
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12. Full Text Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome
by Rosti, Rasim Ozgur and Sotak, Bethany N and Bielas, Stephanie L and Bhat, Gifty and Silhavy, Jennifer L and Aslanger, Ayca Dilruba and Altunoglu, Umut and Bilge, Ilmay and Tasdemir, Mehmet and Yzaguirrem, Amanda D and Musaev, Damir and Infante, Sofia and Thuong, Whitney and Marin-Valencia, Isaac and Nelson, Stanley F and Kayserili, Hulya and Gleeson, Joseph G
Journal of Medical Genetics, ISSN 0022-2593, 06/2017, Volume 54, Issue 6, pp. 399 - 403
Background Microcephaly with nephrotic syndrome is a rare co-occurrence, constituting the Galloway-Mowat syndrome (GAMOS), caused by mutations in WDR73 (OMIM:... 
WDR73 | GENE | NUCLEAR-PORE COMPLEX | GENETICS & HEREDITY | Microcephaly - genetics | Humans | Infant | Male | Developmental Disabilities - genetics | Nephrotic Syndrome - genetics | Nephrosis - genetics | Mutation - genetics | Nuclear Pore Complex Proteins - genetics | Proteins - genetics | Homozygote | Kidney - metabolism | Phenotype | Turkey | Hernia, Hiatal - genetics | Pedigree | Steroids - metabolism | Adolescent | Female | Child | Complications and side effects | Care and treatment | Mowat-Wilson syndrome | Nephrotic syndrome | Research | Homozygosity | Microcephaly | Index Medicus
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13. Full Text A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features
by Marin-Valencia, Isaac and Novarino, Gaia and Johansen, Anide and Rosti, Basak and Issa, Mahmoud Y and Musaev, Damir and Bhat, Gifty and Scott, Eric and Silhavy, Jennifer L and Stanley, Valentina and Rosti, Rasim O and Gleeson, Jeremy W and Imam, Farhad B and Zaki, Maha S and Gleeson, Joseph G
Journal of Medical Genetics, ISSN 0022-2593, 01/2018, Volume 55, Issue 1, pp. 48 - 54
Background Transport protein particle (TRAPP) is a multisubunit complex that regulates membrane trafficking through the Golgi apparatus. The clinical phenotype... 
NIK | GENE | BETA-BINDING PROTEIN | GENETICS & HEREDITY | MUSCULAR-DYSTROPHY | IDENTIFICATION | EXPRESSION | NIBP | RECESSIVE INTELLECTUAL DISABILITY | Autistic Disorder - genetics | Microcephaly - complications | Microcephaly - genetics | Genetic Association Studies | Humans | Vesicular Transport Proteins - genetics | Zebrafish | Neurodevelopmental Disorders - genetics | Mutation - genetics | Epilepsy - complications | Founder Effect | Homozygote | Phenotype | Animals | Epilepsy - genetics | Autistic Disorder - complications | Phenotypes | Disease | Splicing | Intellectual disabilities | Epilepsy | Microcephaly | Neurodevelopmental disorders | Muscular dystrophy | Golgi apparatus | Atrophy | Proteins | Autism | Genotype & phenotype | Microencephaly | Social interaction | Fibroblasts | Membrane trafficking | Mutation | Protein transport | Gene mapping | Age | Index Medicus
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14. Full Text Analysis of Tumor Metabolism Reveals Mitochondrial Glucose Oxidation in Genetically Diverse Human Glioblastomas in the Mouse Brain In Vivo
by Marin-Valencia, Isaac and Yang, Chendong and Yang, Xiao-Li and Mashimo, Tomoyuki and Cho, Steve and Baek, Hyeonman and Rajagopalan, Kartik N and Maddie, Melissa and Vemireddy, Vamsidhara and Zhao, Zhenze and Cai, Ling and Good, Levi and Tu, Benjamin P and Hatanpaa, Kimmo J and Mickey, Bruce E and Matés, José M and Pascual, Juan M and Maher, Elizabeth A and Malloy, Craig R and DeBerardinis, Ralph J and Bachoo, Robert M
Cell Metabolism, ISSN 1550-4131, 06/2012, Volume 15, Issue 6, pp. 827 - 837
Dysregulated metabolism is a hallmark of cancer cell lines, but little is known about the fate of glucose and other nutrients in tumors growing in their native... 
PATHWAYS | LUNG-CANCER | CELLS | ACID CYCLE | ISOTOPE-RESOLVED METABOLOMICS | AEROBIC GLYCOLYSIS | GROWTH | ENDOCRINOLOGY & METABOLISM | C-13 NMR | EXPRESSION | GLUTAMINE-METABOLISM | CELL BIOLOGY | Neoplasm Transplantation | Humans | Brain Neoplasms - pathology | Glutamine - metabolism | Brain Neoplasms - metabolism | Glioblastoma - genetics | Statistics, Nonparametric | Glioblastoma - metabolism | Neostriatum - metabolism | Tumor Cells, Cultured | Glutamate-Ammonia Ligase - metabolism | Gluconeogenesis | Neostriatum - pathology | Oxidation-Reduction | Brain Neoplasms - genetics | Glutaminase - metabolism | Mitochondria - metabolism | Mice, SCID | Pyruvate Carboxylase - metabolism | Phenotype | Animals | Glioblastoma - pathology | Glucose - metabolism | Glycolysis | Mice, Inbred NOD | Glutamic Acid - metabolism | Mice | Brain tumors | Amino acids | Glucose | Citric acid | Dextrose | Cells | Organic acids | Glucose metabolism | Gliomas | Physiological aspects | Oxidation-reduction reaction | Universities and colleges | Glutamine | Tumors | Cancer | Index Medicus
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