G. Mitchell

发表

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes

J. Nadeau, K. Schappert, E. Ziętkiewicz, 2004, Mammalian Genome.

Cohort profile: the maternal-infant research on environmental chemicals research platform.

S. Tittlemier, S. Taback, G. Koren, 2013, Paediatric and perinatal epidemiology.

Phenotypic variability among patients with hyperornithinaemia–hyperammonaemia–homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15

R. Drouin, B. Maranda, G. Mitchell, 2008, Journal of Medical Genetics.

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

C. Obie, D. Valle, D. Labuda, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

Eric S. Lander, Thomas J. Hudson, Matthias Mann, 2003, Proceedings of the National Academy of Sciences of the United States of America.

Pyruvate Dehydrogenase Deficiency Presenting as Intermittent Isolated Acute Ataxia

B. Maranda, G. Mitchell, B. Robinson, 2008, Neuropediatrics.

The hormone-sensitive lipase gene is transcribed from at least five alternative first exons in mouse adipose tissue

N. Laurin, G. Mitchell, Shu Pei Wang, 2000, Mammalian Genome.

Pyruvate carboxylase deficiency: prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form.

G. Mitchell, B. Robinson, M. Lambert, 1999, American journal of medical genetics.

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

D. Valle, J. Michaud, G. Fontaine, 1992, Genomics.

A Class of Reactive Acyl-CoA Species Reveals the Non-enzymatic Origins of Protein Acylation.

Laura G. Dubois, J. Thompson, T. M. O’Connell, 2017, Cell metabolism.

Adipose-Specific Deficiency of Fumarate Hydratase in Mice Protects Against Obesity, Hepatic Steatosis, and Insulin Resistance

G. Mitchell, Gongshe Yang, S. Cinti, 2016, Diabetes.

Disorders of mitochondrial function

G. Mitchell, F. Debray, M. Lambert, 2008, Current opinion in pediatrics.

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network

John J. Mitchell, J. Little, K. Wilson, 2020, Orphanet Journal of Rare Diseases.

Fasting energy homeostasis in mice with adipose deficiency of desnutrin/adipose triglyceride lipase.

G. Mitchell, Gongshe Yang, A. Moreau, 2012, Endocrinology.

Oxidative tyrosylation of high density lipoproteins impairs cholesterol efflux from mouse J774 macrophages: role of scavenger receptors, classes A and B

E. Levy, G. Mitchell, G. Rivard, 2003, Journal of Cell Science.

Hormone-sensitive lipase has a role in lipid signaling for insulin secretion but is nonessential for the incretin action of glucagon-like peptide 1.

M. Prentki, G. Mitchell, B. Corkey, 2004, Diabetes.

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

R. Huganir, J. Lacaille, G. Rouleau, 2011, American journal of human genetics.

Stroke‐like episodes in autosomal recessive cytochrome oxidase deficiency

G. Mitchell, B. Robinson, M. Lambert, 1999, Annals of neurology.

Pathways and control of ketone body metabolism: on the fringe of lipid biochemistry.

G. Mitchell, G. Lopaschuk, T. Fukao, 2004, Prostaglandins, leukotrienes, and essential fatty acids.

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

W. Sly, B. Graham, K. White, 2016, Journal of Medical Genetics.

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.

N. Longo, C. V. van Karnebeek, B. Maranda, 2014, Molecular genetics and metabolism.

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

I. Thiffault, G. Rouleau, F. Hamdan, 2014, European Journal of Human Genetics.

Beta cell compensation for insulin resistance in Zucker fatty rats: increased lipolysis and fatty acid signalling

J. Leahy, M. Prentki, J. Moibi, 2006, Diabetologia.

Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis.

G. Mitchell, A. Richter, Bin Yu, 2005, Experimental cell research.

An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.

D. Valle, M. Kaiser-Kupfer, G. Mitchell, 1988, The Journal of clinical investigation.

L-Carnitine transport in human placental brush-border membranes is mediated by the sodium-dependent organic cation transporter OCTN2.

G. Mitchell, L. Leduc, J. Lafond, 2004, American journal of physiology. Cell physiology.

Hormone-sensitive lipase-independent adipocyte lipolysis during beta-adrenergic stimulation, fasting, and dietary fat loading.

E. Levy, G. Mitchell, D. Richard, 2004, American journal of physiology. Endocrinology and metabolism.

Chromosomal localization of the human liver form cytochrome c oxidase subunit VIIa gene.

J. Rommens, A. Duncan, G. Mitchell, 1997, Genome.

The adipose tissue phenotype of hormone-sensitive lipase deficiency in mice.

N. Laurin, M. Robert, G. Mitchell, 2001, Obesity research.

Human hormone-sensitive lipase (HSL): expression in white fat corrects the white adipose phenotype of HSL-deficient mices⃞s⃞ The online version of this article (available at http://www.jlr.org) contains an additional table. Published, JLR Papers in Press, June 16, 2005. DOI 10.1194/jlr.M500081-JLR20

N. Laurin, G. Mitchell, F. Jirik, 2005, Journal of Lipid Research.

A treatable new cause of chorea: Beta‐ketothiolase deficiency

G. Mitchell, S. Chouinard, T. Fukao, 2013, Movement disorders : official journal of the Movement Disorder Society.

G-Protein–Coupled Receptor 91 and Succinate Are Key Contributors in Neonatal Postcerebral Hypoxia-Ischemia Recovery

G. Mitchell, X. Hou, Olivier Roy, 2014, Arteriosclerosis, thrombosis, and vascular biology.

Inborn errors of mitochondrial acyl-coenzyme a metabolism: acyl-CoA biology meets the clinic.

G. Mitchell, A. Furtos, Shu Pei Wang, 2019, Molecular genetics and metabolism.

Hereditary and acquired diseases of acyl-coenzyme A metabolism.

G. Mitchell, A. Lesimple, O. Mamer, 2008, Molecular genetics and metabolism.

Scavenger receptor CD36 mediates inhibition of cholesterol synthesis via activation of the PPARγ/PGC‐1α pathway and Insig1/2 expression in hepatocytes

E. Levy, G. Mitchell, A. Rodrigue-Way, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Loss of TGH/Ces3 in mice decreases blood lipids, improves glucose tolerance, and increases energy expenditure.

V. Dolinsky, J. Dyck, G. Mitchell, 2010, Cell metabolism.

Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus.

J. Michaud, G. Mitchell, J. Himms-Hagen, 2001, Human molecular genetics.

An Epistatic Interaction between Pnpla2 and Lipe Reveals New Pathways of Adipose Tissue Lipolysis

G. Mitchell, Shu Pei Wang, K. Soni, 2019, Cells.

A beta cell ATGL-lipolysis/adipose tissue axis controls energy homeostasis and body weight via insulin secretion in mice

M. Prentki, B. Simons, Shupei Wang, 2016, Diabetologia.

Inborn errors of cytoplasmic triglyceride metabolism

G. Mitchell, Shu Pei Wang, K. Soni, 2015, Journal of Inherited Metabolic Disease.

Adipocyte death defines macrophage localization and function in adipose tissue of obese mice and humans Published, JLR Papers in Press, September 8, 2005. DOI 10.1194/jlr.M500294-JLR200

Shupei Wang, G. Mitchell, A. Greenberg, 2005, Journal of Lipid Research.

Hormone-sensitive lipase deficiency in mice causes lipid storage in the adrenal cortex and impaired corticosterone response to corticotropin stimulation.

G. Mitchell, M. Brochu, Shu Pei Wang, 2002, Endocrinology.

Deficiency of 3‐hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting

G. Mitchell, T. Fukao, H. Ohnishi, 2020, Journal of inherited metabolic disease.

Disorders of Intracellular Triglyceride and Phospholipid Metabolism

F. Lamari, G. Mitchell, J. Saudubray, 2016 .

Selection against lethal alleles in females heterozygous for incontinentia pigmenti.

B. Migeon, J. Axelman, G. Mitchell, 1989, American journal of human genetics.

The role of the LRPPRC gene in cytochrome oxidase assembly: mutation causes lowered levels of COX I and COX III mRNA.

C. Ackerley, G. Mitchell, B. Robinson, 2004 .

A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16.

E. Lander, T. Hudson, J. Rioux, 2001, American journal of human genetics.

Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.

G. Mitchell, B. Robinson, M. Lambert, 1993, American journal of human genetics.

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.

G. Mitchell, B. Robinson, R. Petrova-Benedict, 1993, American journal of human genetics.

Heparin cofactor II-thrombin complex: a biomarker of MPS disease.

P. Fernhoff, G. Mitchell, O. Bodamer, 2008, Molecular genetics and metabolism.

Enzymes of Ketone Body Utilization in Human Tissues: Protein and Messenger RNA Levels of Succinyl-Coenzyme A (CoA):3-Ketoacid CoA Transferase and Mitochondrial and Cytosolic Acetoacetyl-CoA Thiolases

G. Mitchell, T. Fukao, N. Kondo, 1997, Pediatric Research.

Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene☆

A. Pshezhetsky, G. Mitchell, A. Lortie, 2017, Molecular genetics and metabolism reports.

Enzyme replacement therapy in pediatric patients with Gaucher disease: what should we use as maintenance dosage?

G. Mitchell, J. Galipeau, M. Lambert, 2009, Molecular genetics and metabolism.

Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers.

B. Maranda, G. Mitchell, L. Simard, 2012, Clinical biochemistry.

Liver specific inactivation of carboxylesterase 3/triacylglycerol hydrolase decreases blood lipids without causing severe steatosis in mice

Ariel D. Quiroga, G. Mitchell, R. Lehner, 2012, Hepatology.

Alterations in the testis of hormone sensitive lipase‐deficient mice is associated with decreased sperm counts, sperm motility, and fertility

G. Mitchell, D. Cyr, L. Hermo, 2008, Molecular reproduction and development.

Expression of human hormone-sensitive lipase (HSL) in postmeiotic germ cells confers normal fertility to HSL-deficient mice.

G. Mitchell, L. Hermo, H. Bourdages, 2004, Endocrinology.

Infertility and testicular defects in hormone-sensitive lipase-deficient mice.

G. Mitchell, L. Hermo, J. Trasler, 2001, Endocrinology.

Ketone body metabolism and its defects

J. Sass, G. Mitchell, T. Fukao, 2014, Journal of Inherited Metabolic Disease.

Cloning and characterization of the human mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase gene.

G. Mitchell, Y. Boukaftane, 1997, Gene.

A Liver-Specific Defect of Acyl-CoA Degradation Produces Hyperammonemia, Hypoglycemia and a Distinct Hepatic Acyl-CoA Pattern

A. Moser, F. Alvarez, G. Mitchell, 2013, PloS one.

3-Hydroxy-3-methylglutaryl-CoA lyase is present in mouse and human liver peroxisomes.

H. Miziorko, G. Mitchell, L. Ashmarina, 1994, The Journal of biological chemistry.

Human mitochondrial HMG CoA synthase: liver cDNA and partial genomic cloning, chromosome mapping to 1p12-p13, and possible role in vertebrate evolution.

D. Labuda, K. Schappert, A. Duncan, 1994, Genomics.

Saguenay Lac Saint Jean cytochrome oxidase deficiency: sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc.

G. Mitchell, B. Robinson, C. Morin, 1998, Biochimica et biophysica acta.

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency

G. Mitchell, B. Robinson, J. Cameron, 2006, European Journal of Pediatrics.

Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.

C. Pérez-Cerdá, M. Ugarte, A. Duncan, 1996, American journal of human genetics.

Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Clinical Course and Description of Causal Mutations in Two Patients

C. Stanley, Shupei Wang, M. Robert, 2001, Pediatric Research.

Potential mechanism underlying the PNPLA3I148M‐Hepatic steatosis connection

G. Mitchell, Hao Yang, J. Wu, 2015, Hepatology.

At least two mutant alleles of ornithine 6-aminotransferase cause gyrate atrophy of the choroid and retina in Finns (RNase A protection/polymerase chain reaction/hyperornithinemia/chorioretinal degeneration/missense mutation)

C. Obie, D. Valle, M. Kaiser-Kupfer, 2016 .

A heterozygote phenotype is present in the jvs +/- mutant mouse livers.

Jie Wu, G. Mitchell, K. Lahjouji, 2002, Molecular genetics and metabolism.

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.

G. Mitchell, P. Rinaldo, D. Matern, 2006, Molecular genetics and metabolism.

Deficiency of liver adipose triglyceride lipase in mice causes progressive hepatic steatosis

F. Alvarez, G. Mitchell, Gongshe Yang, 2011, Hepatology.

Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13

G. Mitchell, Jean-Sébastien Joyal, L. Oligny, 2019, Journal of Pediatric Intensive Care.

Neonatal hypoglycaemia in severe succinyl-CoA:3-oxoacid CoA-transferase deficiency

G. Mitchell, T. Fukao, N. Kondo, 2001, Journal of Inherited Metabolic Disease.

Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.

C. Obie, D. Valle, K. Schappert, 1995, American journal of human genetics.

Recurrent pancreatitis in mitochondrial cytopathy

J. Michaud, G. Mitchell, L. Garel, 2006, American journal of medical genetics. Part A.

Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.

G. Mitchell, P. Clayton, E. Rossignol, 2015, JIMD reports.

The succinate receptor GPR91 in neurons has a major role in retinal angiogenesis

X. Mu, G. Andelfinger, G. Mitchell, 2008, Nature Medicine.

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Dipendra K. Aryal, D. Goldstein, J. McNamara, 2013, Neuron.

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

S. Waisbren, M. Grompe, C. V. van Karnebeek, 2017, Genetics in Medicine.

Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: use of acetyldithio-coenzyme A to monitor product enolization.

H. Miziorko, G. Mitchell, R. Tuinstra, 2004, Biochemistry.

Modeling of a Mutation Responsible for Human 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency Implicates Histidine 233 as an Active Site Residue*

H. Miziorko, G. Mitchell, J. Roberts, 1996, The Journal of Biological Chemistry.

The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: a double-blind randomized crossover clinical trial.

G. Mitchell, B. Robinson, J. Lacroix, 2003, The Journal of pediatrics.

Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency

P. Waters, G. Mitchell, Francis Rossignol, 2016, Journal of Medical Genetics.

Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype.

T. Hudson, A. Verner, G. Mitchell, 2000, American journal of human genetics.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

S. Grünert, J. Sass, G. Mitchell, 2017, Molecular Genetics and Metabolism.

A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect.

G. Mitchell, Jenny Bellerose, M. Beauchamp, 2015, JIMD reports.

Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients.

G. Mitchell, J. Lemay, J. Dubé, 1992, The Journal of pediatrics.

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

E. Shoubridge, H. Antonicka, I. Thiffault, 2015, Human molecular genetics.

The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA.

C. Ackerley, G. Mitchell, B. Robinson, 2004, The Biochemical journal.

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency

A. Janvier, B. Maranda, G. Mitchell, 2011, Journal of Medical Genetics.

Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.

G. Mitchell, B. Robinson, F. Debray, 2007, Clinical chemistry.

Long-term Outcome and Clinical Spectrum of 73 Pediatric Patients With Mitochondrial Diseases

E. Shoubridge, G. Mitchell, B. Robinson, 2007, Pediatrics.

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

S. Almashanu, C. Obie, D. Valle, 1999, Nature Genetics.

A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.

T. Hudson, J. Michaud, G. Mitchell, 2002, American journal of human genetics.

Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.

C. Obie, D. Valle, M. Kaiser-Kupfer, 1992, The Journal of biological chemistry.

At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

C. Obie, M. Kaiser-Kupfer, G. Mitchell, 1989, Proceedings of the National Academy of Sciences of the United States of America.

SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome

E. Shoubridge, A. Gingras, H. McBride, 2016, EMBO molecular medicine.

Müller Cell-Localized GPR81 (HCA1) Regulates Inner Retinal Vasculature via Norrin/Wnt Pathways.

G. Mitchell, J. Rivera, D. Hamel, 2019, The American journal of pathology.

Müller Cell-Localized GPR81 (HCA1) Regulates Inner Retinal Vasculature via Norrin/Wnt Pathways.

G. Mitchell, J. Rivera, D. Hamel, 2019, The American journal of pathology.

Carnitine transport by organic cation transporters and systemic carnitine deficiency.

G. Mitchell, K Lahjouji, G A Mitchell, 2001, Molecular genetics and metabolism.

The multiple facets of acetyl-CoA metabolism: Energetics, biosynthesis, regulation, acylation and inborn errors.

P. Waters, Shupei Wang, G. Mitchell, 2022, Molecular genetics and metabolism.

Cardiac-specific deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase in mice causes cardiomyopathy and a distinct pattern of acyl-coenzyme A-related biomarkers.

E. Schiffrin, P. Waters, Shupei Wang, 2022, Molecular genetics and metabolism.

Metabolism as a tool for understanding human brain evolution: lipid energy metabolism as an example.

G. Mitchell, T. Fukao, N. Gauthier, 2014, Journal of human evolution.

L-Carnitine transport in mouse renal and intestinal brush-border and basolateral membrane vesicles.

G. Mitchell, K. Lahjouji, I. Qureshi, 2002, Biochimica et biophysica acta.

3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria.

A. Pshezhetsky, G. Mitchell, S. Branda, 1999, Journal of lipid research.

Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.

P. Awadalla, Christoph Preuss, G. Andelfinger, 2016, The Canadian journal of cardiology.

Positive Regulation of Insulin Signaling by Neuraminidase 1

A. Pshezhetsky, P. Thibault, N. Heveker, 2013, Diabetes.

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

G. Rouleau, Eunjoon Kim, T. Kleefstra, 2015, Human mutation.

Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cells.

E. Seidman, G. Mitchell, K. Lahjouji, 2003, American journal of physiology. Gastrointestinal and liver physiology.

Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cells.

E. Seidman, G. Mitchell, K. Lahjouji, 2003, American journal of physiology. Gastrointestinal and liver physiology.

An Infant With Mucolipidosis-II And an Atretic orifice of the Left Coronary Artery

N. Dahdah, G. Mitchell, A. Siles, 2009, Cardiology in the Young.

A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

Philippe M. Campeau, J. Michaud, G. Mitchell, 2019, European Journal of Human Genetics.

Urolithin A exerts antiobesity effects through enhancing adipose tissue thermogenesis in mice

G. Mitchell, W. Pang, Yan Chen, 2020, PLoS biology.

Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene.

H. Willard, D. Valle, G. Mitchell, 1988, The Journal of biological chemistry.

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population

G. Fishman, J. Duncan, D. Chitayat, 2010, Journal of Medical Genetics.

Medical aspects of ketone body metabolism.

Shupei Wang, M. Robert, G. Mitchell, 1995, Clinical and investigative medicine. Medecine clinique et experimentale.

Remaining Challenges in the Treatment of Tyrosinemia from the Clinician's Viewpoint.

G. Mitchell, Hao Yang, 2017, Advances in experimental medicine and biology.

Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase.

G. Mitchell, T. Fukao, N. Kondo, 2008, The Tohoku journal of experimental medicine.

Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations.

R. Wanders, R. Wanders, G. Besley, 2000, Genomics.

Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency.

R. Wanders, M. Ugarte, G. Mitchell, 1997, Biochimica et biophysica acta.

Lipolysis and the integrated physiology of lipid energy metabolism.

Meriem Semache, Shupei Wang, G. Mitchell, 2008, Molecular genetics and metabolism.

Hormone-sensitive lipase knockout mice have increased hepatic insulin sensitivity and are protected from short-term diet-induced insulin resistance in skeletal muscle and heart.

M. Prentki, G. Shulman, G. Cline, 2005, American journal of physiology. Endocrinology and metabolism.

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.

G. Mitchell, Yasuyuki Suzuki, W. Mackenzie, 2013, Molecular genetics and metabolism.

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests

F. Sasarman, Philippe M. Campeau, G. Mitchell, 2016, Journal of Inherited Metabolic Disease.

Hereditary diseases of coenzyme A thioester metabolism.

G. Mitchell, Shu Pei Wang, Hao Yang, 2019, Biochemical Society transactions.

3-Hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient mice.

J. Marth, M. Robert, G. Mitchell, 1998, Human molecular genetics.

Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.

G. Fenichel, A. George, G. Mitchell, 1994, Human molecular genetics.

LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy

F. Sasarman, G. Mitchell, E. Rossignol, 2015, Molecular genetics and metabolism reports.

Inborn Errors of Ketone Body Metabolism and Transport: An Update for the Clinic and for Clinical Laboratories

J. Sass, G. Mitchell, T. Fukao, 2018 .

Hormone-sensitive lipase (Lipe): Sequence analysis of the 129Sv mouse Lipe gene

M. Robert, G. Mitchell, P. Lapierre, 1997, Mammalian Genome.

Adipose tissue deficiency of hormone-sensitive lipase causes fatty liver in mice

G. Mitchell, Shu Pei Wang, Hao Yang, 2017, PLoS genetics.

Genetics, physiology and perinatal influences in childhood obesity: view from the Chair

G. Mitchell, GA Mitchell, 2009, International Journal of Obesity.

Premature Ovarian Failure in French Canadian Leigh Syndrome.

G. Mitchell, C. Huot, G. Van Vliet, 2017, The Journal of pediatrics.

[Hyperornithinemia and gyrate atrophy: ornithine aminotransferase gene error causing a Finnish disease].

D. Valle, G. Mitchell, L. Brody, 1994, Duodecim; laaketieteellinen aikakauskirja.

Hormone-sensitive lipase maps to proximal chromosome 7 in mice and is genetically distinct from the Ad and Tub loci.

J. Nadeau, M. Robert, G. Mitchell, 1994, Genomics.

The catalytic function of hormone-sensitive lipase is essential for fertility in male mice.

D. Labuda, B. Leavitt, G. Mitchell, 2014, Endocrinology.

Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type.

M. Roy, G. Mitchell, M. Robert, 2014, Ophthalmology.

Molecular prenatal diagnosis of 3‐hydroxy−3‐methylglutaryl coa lyase deficiency

M. Robert, G. Mitchell, A. Burlina, 1995, Prenatal diagnosis.

HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

R. Wanders, K. Gibson, M. Robert, 1998, American journal of human genetics.

Molecular and enzymatic methods for detection of genetic defects in distal pathways of branched-chain amino acid metabolism.

M. Ugarte, K. Gibson, G. Mitchell, 2000, Methods in enzymology.

3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients.

R. Wanders, K. Gibson, M. Robert, 1996, Genomics.

3-Hydroxy-3-methylglutaryl-CoA lyase: expression and isolation of the recombinant human enzyme and investigation of a mechanism for regulation of enzyme activity.

P. Hruz, H. Miziorko, G. Mitchell, 1994, The Journal of biological chemistry.

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency.

K. Schappert, K. Gibson, M. Robert, 1993, The Journal of biological chemistry.

Low Citrulline in Leigh Disease: Still a Biomarker of Maternally Inherited Leigh Syndrome

G. Mitchell, F. Debray, M. Lambert, 2010, Journal of child neurology.

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: benign clinical course in an unselected cohort

S. Lévesque, B. Maranda, P. Waters, 2018, Journal of Inherited Metabolic Disease.

Glutaric acidemia type II. Comparison of pathologic features in two infants.

J. L. Edwards, R. Hruban, G. Hutchins, 1988, Archives of pathology & laboratory medicine.

Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure.

R. Wierenga, R. Wanders, G. Mitchell, 2007, Molecular genetics and metabolism.

Treatment of cobalamin C (cblC) deficiency during pregnancy

G. Mitchell, M. Lambert, T. Costa, 2010, Journal of Inherited Metabolic Disease.

3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment.

D. Zafeiriou, G. Mitchell, E. Vargìami, 2007, Pediatric neurology.

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.

John J. Mitchell, S. Lindstedt, E. Holme, 2012, Molecular genetics and metabolism.

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome

John J. Mitchell, E. Shoubridge, H. Antonicka, 2015, Human Genetics.

Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1.

G. Mitchell, A. Richter, Bin Yu, 2009, Experimental cell research.

Carboxylesterase 3 (EC 3.1.1.1) Is a Major Adipocyte Lipase*

A. Pshezhetsky, P. Metalnikov, G. Mitchell, 2004, Journal of Biological Chemistry.

Epistatic interaction between the lipase-encoding genes Pnpla2 and Lipe causes liposarcoma in mice

Christoph Preuss, G. Andelfinger, G. Carter, 2017, PLoS genetics.

Single-strand conformational polymorphisms (SSCP): detection of useful polymorphisms at the dystrophin locus

D. Labuda, D. Sinnett, C. Richer, 1992, Human Genetics.

Characterization of the hydroxymethylglutaryl-CoA lyase precursor, a protein targeted to peroxisomes and mitochondria.

M. Robert, G. Mitchell, M. Elsliger, 1996, The Biochemical journal.

Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

R. Wanders, R. Wanders, K. Gibson, 1994, Journal of Inherited Metabolic Disease.

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

P. Waters, G. Mitchell, Francis Rossignol, 2017, Molecular genetics and metabolism reports.

Acute tubular dysfunction with Fanconi syndrome: a new manifestation of mitochondrial cytopathies.

G. Mitchell, B. Robinson, F. Debray, 2008, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Succinyl-CoA:3-oxoacid transferase (SCOT): Human cDNA and genomic cloning and chromosomal mapping of the human gene

A. Duncan, G. Mitchell, S. Kassovska‐Bratinova, 1994 .

Deficiency of liver adipose triglyceride lipase in mice causes progressive hepatic steatosis

F. Alvarez, G. Mitchell, Gongshe Yang, 2011, Hepatology.

G-Protein–Coupled Receptor 91 and Succinate Are Key Contributors in Neonatal Postcerebral Hypoxia-Ischemia Recovery

G. Mitchell, X. Hou, Olivier Roy, 2014, Arteriosclerosis, thrombosis, and vascular biology.

Loss of TGH/Ces3 in mice decreases blood lipids, improves glucose tolerance, and increases energy expenditure.

V. Dolinsky, J. Dyck, G. Mitchell, 2010, Cell metabolism.

Hereditary and acquired diseases of acyl-coenzyme A metabolism.

G. Mitchell, A. Lesimple, O. Mamer, 2008, Molecular genetics and metabolism.

Hormone-sensitive lipase-independent adipocyte lipolysis during beta-adrenergic stimulation, fasting, and dietary fat loading.

E. Levy, G. Mitchell, D. Richard, 2004, American journal of physiology. Endocrinology and metabolism.

The Québec NTBC Study.

John J. Mitchell, F. Alvarez, B. Maranda, 2017, Advances in experimental medicine and biology.

Expression and localization of organic cation / carnitine transporter OCTN 2 in Caco-2 cells

E. Seidman, G. Mitchell, M. Roy, 2003 .

Development and description of GETT: a Genetic testing Evidence Tracking Tool

G. Mitchell, C. Mamotte, Y. Labelle, 2010, Clinical chemistry and laboratory medicine.