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Fatty Acid Oxidation-Driven Src Links Mitochondrial Energy Reprogramming and Oncogenic Properties in Triple-Negative Breast Cancer

Cell reports (Cambridge), 2016-03, Vol.14 (9), p.2154-2165

2016

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Transglutaminase 2 reprogramming of glucose metabolism in mammary epithelial cells via activation of inflammatory signaling pathways

International journal of cancer, 2014-06, Vol.134 (12), p.2798-2807

2014

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Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency

Molecular genetics and metabolism, 2016-05, Vol.118 (1), p.28-34

2016

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Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production

eLife, 2014-10, Vol.3

2014

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Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights

Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.509-518

2019

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A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

Genetics in medicine, 2018-10, Vol.20 (10), p.1274-1283

2018

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Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay

Molecular genetics and metabolism, 2017-06, Vol.121 (2), p.83-90

2017

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Increased COUP-TFII expression in adult hearts induces mitochondrial dysfunction resulting in heart failure

Nature communications, 2015-09, Vol.6 (1), p.8245-8245, Article 8245

2015

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Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway

Molecular genetics and metabolism, 2020-09, Vol.131 (1-2), p.147-154

2020

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Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

American journal of human genetics, 2013-09, Vol.93 (3), p.471-481

2013

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Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

PLoS biology, 2012-03, Vol.10 (3), p.e1001288-e1001288

2012

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Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene

Molecular genetics and metabolism, 2014-11, Vol.113 (3), p.207-212

2014

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Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress

PLoS biology, 2015-07, Vol.13 (7), p.e1002197-e1002197

2015

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Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet

PloS one, 2017-09, Vol.12 (9), p.e0184022-e0184022

2017

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P012: Measuring non-reducing terminal glycosaminoglycan fragments increases specificity and differentiates mucopolysaccharidosis type I (MPS I) from mucopolysaccharidosis type II (MPS II)

Genetics in Medicine Open, 2023, Vol.1 (1), p.100022, Article 100022

2023

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Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice

Translational psychiatry, 2020-06, Vol.10 (1), p.176, Article 176

2020

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Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant

Molecular genetics and metabolism, 2016-09, Vol.119 (1-2), p.68-74

2016

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Aromatic l-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma

Molecular genetics and metabolism, 2015-06, Vol.115 (2-3), p.91-94

2015

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Holocarboxylase synthetase deficiency pre and post newborn screening

Molecular genetics and metabolism reports, 2016-06, Vol.7 (C), p.40-44

2016

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P441: Genomic and biochemical profile of pseudodeficiency in lysosomal storage disorders

Genetics in Medicine Open, 2023, Vol.1 (1), p.100488, Article 100488

2023

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Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse

PLoS genetics, 2017-06, Vol.13 (6), p.e1006825-e1006825

2017

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P053: Understanding the measurement of nicotinamide adenine dinucleotide (NAD+) from dried blood spots through a population study

Genetics in Medicine Open, 2024, Vol.2, p.100930, Article 100930

2024

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2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Frontiers in neuroscience, 2019-05, Vol.13, p.394-394

2019

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Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Molecular genetics and metabolism reports, 2016-09, Vol.8 (C), p.61-66

2016

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Mitochondrial Dysfunction Mediated by Poly(ADP-Ribose) Polymerase-1 Activation Contributes to Hippocampal Neuronal Damage Following Status Epilepticus

International journal of molecular sciences, 2017-07, Vol.18 (7), p.1502

2017

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Fatty Acid Oxidation-Driven Src Links Mitochondrial Energy Reprogramming and Oncogenic Properties in Triple-Negative Breast Cancer

Transglutaminase 2 reprogramming of glucose metabolism in mammary epithelial cells via activation of inflammatory signaling pathways

Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency

Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production

Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay

Increased COUP-TFII expression in adult hearts induces mitochondrial dysfunction resulting in heart failure

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene

Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet

P012: Measuring non-reducing terminal glycosaminoglycan fragments increases specificity and differentiates mucopolysaccharidosis type I (MPS I) from mucopolysaccharidosis type II (MPS II)

Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice

Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant

Aromatic l-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma

Holocarboxylase synthetase deficiency pre and post newborn screening

P441: Genomic and biochemical profile of pseudodeficiency in lysosomal storage disorders

Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse

P053: Understanding the measurement of nicotinamide adenine dinucleotide (NAD+) from dried blood spots through a population study

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Mitochondrial Dysfunction Mediated by Poly(ADP-Ribose) Polymerase-1 Activation Contributes to Hippocampal Neuronal Damage Following Status Epilepticus

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