Chercheur

    Grant A. Mitchell , M.D.

    grant.mitchell@recherche-ste-justine.qc.ca
    Grant A. Mitchell
    Axe de recherche
    Santé métabolique et maladies complexes
    Thème de recherche
    Maladies génétiques et métaboliques au Québec : diagnostics, mécanismes et interventions
    Adresse
    CHUSJ

    Téléphone
    514 345-4931

    Fax
    514 345-4766

    Sommaire de carrière

    Les intérêts de recherche de Grant Mitchell, en tant que clinicien, généticien biochimiste et généticien moléculaire, gravitent autour des maladies infantiles héréditaires.

    Ses travaux en laboratoire portent sur l’identification et le clonage des gènes à l’origine de la cécité héréditaire (l’atrophie gyrate), trois maladies du métabolisme énergétique des lipides pouvant évoluer vers le coma et réduire les taux sanguins de glucose, ainsi que la lipase hormono-sensible, une enzyme impliquée dans le diabète et l’obésité.

    Son équipe porte un intérêt tout particulier à la reconstruction de ces voies métaboliques dans le but éventuel de prévenir ou de traiter ces maladies.

    En collaboration avec un groupe de collègues, Grant Mitchell poursuit ses recherches cliniques en identifiant les maladies génétiques particulièrement fréquentes au Québec et en réalisant des essais thérapeutiques dans le cadre de ces affections, à savoir la déficience en cytochrome oxydase (l’une des causes d’ACV et d'insuffisance circulatoire chez l’enfant), de même que la tyrosinémie et la cirrhose amérindienne infantile d’Amérique du Nord, deux maladies qui entraînent une insuffisance hépatique.

Publications

G-protein-coupled receptor 91 and succinate are key contributors in neonatal postcerebral hypoxia-ischemia recovery - Hamel D, Sanchez M, Duhamel F, Roy O, Honoré JC, Noueihed B, Zhou T, Nadeau-Vallée M, Hou X, Lavoie JC, Mitchell GA, Mamer O, Chemtob S. G-protein-coupled receptor 91 and succinate are key contributors in neonatal postcerebral hypoxia-ischemia recovery. Arterioscler Thromb Vasc Biol 2014; 34(2): 285-293.

Scavenger receptor CD36 mediates inhibition of cholesterol synthesis via activation of the PPAR?/PGC-1a pathway and Insig1/2 expression in hepatocytes - Rodrigue-Way A, Caron V, Bilodeau S, Keil S, Hassan M, Levy E, Mitchell GA, Tremblay A. Scavenger receptor CD36 mediates inhibition of cholesterol synthesis via activation of the PPARγ/PGC-1α pathway and Insig1/2 expression in hepatocytes. FASEB J 2014; 28(4): 1910-1923.

Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type - Gizicki R, Robert MC, Gómez-López L, Orquin J, Décarie JC, Mitchell GA, Roy M-S, Ospina LH. Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type. Ophthalmology 2014; 121(1): 381-386.

A treatable new cause of chorea: Beta-ketothiolase deficiency - Buhas D, Bernard G, Fukao T, Décarie JC, Chouinard S, Mitchell GA. A treatable new cause of chorea: Beta-ketothiolase deficiency. Movement Disord 2013; 28(8): 1054-1056.

A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern - Gauthier N, Wu JW, Wang SP, Allard P, Mamer O, Sweetman L, Moser AB, Kratz L, Alvarez F, Robitaille Y, Lépine F, Mitchell GA. A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern. PLoS ONE 2013; 8(7): e60581.

Positive regulation of insulin signaling by neuraminidase 1 - Dridi L, Seyrantepe V, Fougerat A, Pan X, Bonneil E, Thibault P, Moreau A, Mitchell GA, Heveker N, Cairo CW, Issad T, Hinek A, Pshezhetsky AV. Positive regulation of insulin signaling by neuraminidase 1. Diabetes 2013; 62(7): 2338-2346.

Cohort profile: the maternal-infant research on environmental chemicals research platform - Arbuckle TE, Fraser W, Fisher M, Davis K, Liang CL, Lupien N, Bastien S, Velez MP, von Dadelszen P, Hemming DG, Wang J, Helewa ME, Taback S, Sermer M, Foster W, Ross G, Fredette P, Smith G, Walker M, Shear R, Dodds L, Ettinger AS, Weber JP, D'Amour M, Legrand M, Kumarathasan P, Vincent R, Luo ZC, Platt RW, Mitchell GA, Hidiroglou N, Cockell K, Villeneuve M, Rawn DF, Dabeka R, Cao XL, Becalski A, Ratnayake N, Bondy G, Jin X, Wang Z, Tittlemier S, Julien P, Avard D, Weiler H, Leblanc A, Muckle G, Boivin M, Dionne G, Ayotte P, Lanphear B, Séguin JR, Saint-Amour D, Dewailly E, Monnier P, Koren G, Ouellet E. Cohort profile: the maternal-infant research on environmental chemicals research platform. Am J Perinatol 2013; 27(4): 415-425.

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy - Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan F, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Décarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam S, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB. Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron 2013; 80(2): 429-441.

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels - Dũng VC, Tomatsu S, Montaño AM, Gottesman G, Bober MB, Mackenzie W, Maeda M, Mitchell GA, Suzuki Y, Orii T. Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels. Mol Genet Metab 2013; 110(1-2): 129-138.

Diversity of ARSACS mutations in French-Canadians - Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupré N, Prévost C, Bouchard J-P, Mathieu J, Brais B. Diversity of ARSACS mutations in French-Canadians. Can J Neurol Sci 2013; 40(1): 61-66.

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec - Larochelle J, Alvarez F, Bussières J-F, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, Holme E, Laframboise R, Lambert MA, Lindstedt S, Maranda B, Melançon S, Merouani A, Mitchell J, Parizeault G, Pelletier L, Phan V, Rinaldo P, Scott C, Scriver C, Mitchell GA. Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec. Mol Genet Metab 2012; 107(1-2): 49-54.

Fasting energy homeostasis in mice with adipose deficiency of desnutrin/adipose triglyceride lipase - Wu J, Wang SP, Casavant S, Moreau A, Yang G, Mitchell GA. Fasting energy homeostasis in mice with adipose deficiency of desnutrin/adipose triglyceride lipase. Endocrinology 2012; 153(5): 2198-2207.

Spinal muscular atrophy: Clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers - Maranda B, Fan L, Soucy JF, Simard L, Mitchell GA. Spinal muscular atrophy: Clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers. Clin Biochem 2012; 45(1-2) : 88-91.

Liver specific inactivation of carboxylesterase 3/triacylglycerol hydrolase decreases blood lipids without causing severe steatosis in mice - Lian J, Wei E, Wang SP, Quiroga AD, Li L, Di Pardo A, van der Veen J, Sipione S, Mitchell GA, Lehner R. Liver specific inactivation of carboxylesterase 3/triacylglycerol hydrolase decreases blood lipids without causing severe steatosis in mice. Hepatology 2012; 56(6): 2154-2162.

Threshold for toxicity from hyperammonemia in critically ill children - Ozanne B, Nelson J, Cousineau J, Lambert MA, Phan V, Mitchell GA, Alvarez F, Ducruet T, Jouvet P. Threshold for toxicity from hyperammonemia in critically ill children. J Hepatol 2012; 56(1): 123-128.

Tyrosine - Mitchell GA, Rezvani I. Tyrosine. Dans: Kliegman RM, Behrman RE, Henson B, Stanton BF (eds). Nelson Textbook of Pediatric, 19th edition. Philadelphia. Saunders-Elsevier, 2011; 422-425.

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency - Debray FG, Morin C, Janvier A, Villeneuve J, Maranda B, Laframboise R, Lacroix J, Décarie JC, Robitaille Y, Lambert MA, Robinson BH, Mitchell GA. LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. J Med Genet 2011; 48(3): 183-189.

Deficiency of liver adipose triglyceride lipase in mice causes progressive hepatic steatosis - Wu J, Wang SP, Alvarez F, Casavant S, Gauthier N, Abel L, Soni K, Yang G, Mitchell GA. Deficiency of liver adipose triglyceride lipase in mice causes progressive hepatic steatosis. Hepatology 2011; 54(1): 122-132.

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability - Hamdan F, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O, S2D Group, Shekarabi M, Marineau C, Shevell MI, Maranda B, Mitchell GA, Nadeau A, D'Anjou G, Vanasse M, Srour M, Lafrenière RG, Drapeau P, Lacaille JC, Kim E, Lee JR, Igarashi K, Huganir RL, Rouleau GA, Michaud JL. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet 2011; 88(3): 306-316.

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition - Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson S, Innes AM, Mitchell GA, Boycott KM, Héon E. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat 2011; 32(6): 610-619.

A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing - Majewski J, Wang Z, Lopez I, Al Humaid S, Ren H, Racine J, Bazinet A, Mitchell GA, Braverman N, Koenekoop R. A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing. J Med Genet 2011; 48(9): 593-596 .

An infant with mucolipidosis-II and an atretic orifice of the left coronary artery - Siles A, Mitchell GA, Dahdah NS. An infant with mucolipidosis-II and an atretic orifice of the left coronary artery. Cardiol Young 2010; 20(1): 97-99.

Loss of TGH/Ces3 in mice decreases blood lipids, improves glucose tolerance, and increases energy expenditure - Wei E, Ben Ali Y, Lyon J, Wang H, Nelson R, Dolinsky VW, Dyck JR, Mitchell GA, Korbutt GS, Lehner R. Loss of TGH/Ces3 in mice decreases blood lipids, improves glucose tolerance, and increases energy expenditure. Cell Metab 2010; 11(3): 183-193.

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population - Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, Héon E. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. J Med Genet 2010; 47(7): 453-463.

Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome - Debray FG, Lambert MA, Allard P, Mitchell GA. Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome. J Child Neurol 2010; 25(8): 1000-1002.

Development and description of GETT: a genetic testing evidence tracking tool - Rousseau F, Lindsay C, Charland M, Labelle Y, Bergeron J, Blancquaert I, Delage R, Gilfix B, Miron M, Mitchell GA, Oligny LL, Pazzagli M, Mamotte C, Payne D, IFCC Scientific Division Committee on Molecular Diagnostics. Development and description of GETT: a genetic testing evidence tracking tool. Clin Chem Lab Med 2010; 48(10): 1397-1407.

Treatment of cobalamin C (cblC) deficiency during pregnancy - Brunel-Guitton C, Costa T, Mitchell GA, Lambert MA. Treatment of cobalamin C (cblC) deficiency during pregnancy. J Inherit Metab Dis 2010; DOI: 10.1007/s10545-010-9202-7.

Genetics, physiology and perinatal influences in childhood obesity: view from the Chair - Mitchell GA. Genetics, physiology and perinatal influences in childhood obesity: view from the Chair. Int J Obesity 2009; 33 (suppl 1): S41-47.

Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1 - Yu B, Mitchell GA, Richter A. Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1. Exp Cell Res 2009; 315(18): 3086-3098.

Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type - De Bie I, Nizard SD, Mitchell GA. Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type. Prenat Diagn 2009; 29(3): 266-270.

The stoichiometry of protein phosphorylation in adipocyte lipid droplets: analysis by N-terminal isotope tagging and enzymatic dephosphorylation - Kanshin E, Wang S, Ashmarina L, Fediaev M, Nifantiev I, Mitchell GA, Pshezhetsky AV. The stoichiometry of protein phosphorylation in adipocyte lipid droplets: analysis by N-terminal isotope tagging and enzymatic dephosphorylation. Proteomics 2009; 9(22): 5067-5077.

Enzyme replacement therapy in pediatric patients with Gaucher disease: what should we use as maintenance dosage? - Brunel-Guitton C, Rivard G-É, Galipeau J, Alos N, Miron MC, Therrien R, Mitchell GA, Lapierre J-G, Lambert MA. Enzyme replacement therapy in pediatric patients with Gaucher disease: what should we use as maintenance dosage?. Mol Genet Metab 2009; 96(2): 73-76.

Hereditary and acquired diseases of acyl-coenzyme A metabolism - Mitchell GA, Gauthier N, Lesimple A, Wang SP, Mamer O, Qureshi IA. Hereditary and acquired diseases of acyl-coenzyme A metabolism. Mol Genet Metab 2008; 94(1): 4-15.

Alterations in the testis of hormone sensitive lipase-deficient mice is associated with decreased sperm counts, sperm motility, and fertility - Hermo L, Chung S, Gregory M, Smith CE, Wang SP, El-Alfy MV, Cyr DG, Mitchell GA, Trasler J. Alterations in the testis of hormone sensitive lipase-deficient mice is associated with decreased sperm counts, sperm motility, and fertility. Mol Reprod Dev 2008; 75(4): 565-577.

Reduced brain choline in homocystinuria due to remethylation defects - Debray FG, Boulanger Y, Khiat A, Décarie JC, Orquin J, Roy M-S, Lortie A, Ramos F, Verhoeven NM, Struys E, Blom HJ, Jakobs C, Levy E, Mitchell GA, Lambert MA. Reduced brain choline in homocystinuria due to remethylation defects. Neurology 2008; 71(1): 44-49.

The succinate receptor GPR91 in neurons has a major role in retinal angiogenesis - Sapieha P, Sirinyan M, Hamel D, Zaniolo K, Cho JH, Joyal JS, Honoré JC, Kermorvant-Duchemin E, Varma D, Tremblay S, Leduc M, Rihakova L, Hardy P, Klein WH, Mu X, Mamer O, Di Polo A, Beauséjour C, Mitchell GA, Andelfinger G, Sennlaub F, Chemtob S. The succinate receptor GPR91 in neurons has a major role in retinal angiogenesis. Nat Med 2008; 14(10) : 1067-1076.

Disorders of mitochondrial function - Debray FG, Lambert MA, Mitchell GA. Disorders of mitochondrial function. Curr Opin Pediatr 2008; 20(4): 471-482.

Lipolysis and the integrated physiology of lipid energy metabolism - Wang S, Soni K, Semache M, Casavant S, Fortier M, Pan L, Mitchell GA. Lipolysis and the integrated physiology of lipid energy metabolism. Mol Genet Metab 2008; 95(3): 117-126.

Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia - Debray FG, Lambert MA, Gagné R, Maranda B, Laframboise R, Mackay N, Robinson BH, Mitchell GA. Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia. Neuropediatrics 2008; 39(1): 20-23.

Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase - Orii T, Fukao T, Song X-Q, Mitchell GA, Kondo N. Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase. Tohoku J Exp Med 2008; 215(3): 227-236.

Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15 - Debray FG, Lambert MA, Lemieux B, Soucy JF, Drouin R, Fenyves D, Dubé J, Maranda B, Laframboise R, Mitchell GA. Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15. J Med Genet 2008; 45(11): 759-764.

Acute tubular dysfunction with fanconi syndrome: a new manifestation of mitochondrial cytopathies - Debray FG, Mérouani A, Lambert MA, Brochu P, Bernard C, Robinson BH, Mitchell GA. Acute tubular dysfunction with fanconi syndrome: a new manifestation of mitochondrial cytopathies. Am J Kidney Dis 2008; 51(4): 691-696.

The succinate receptor GPR91 in neurons has a major role in retinal angiogenesis - Sapieha P, Sirinyan M, Hamel D, Zaniolo K, Cho JH, Joyal JS, Honoré JC, Kermorvant-Duchemin E, Varma D, Tremblay S, Leduc M, Rihakova L, Hardy P, Klein WH, Mu X, Mamer O, Di Polo A, Beauséjour C, Mitchell GA, Andelfinger G, Sennlaub F, Chemtob S. The succinate receptor GPR91 in neurons has a major role in retinal angiogenesis. Nat Med 2008; 14(10) : 1067-1076.

Maladies métaboliques à expression néonatales - Mitchell GA, Lambert MA, Jouvet P, Payot A. Maladies métaboliques à expression néonatales. Dans: Turgeon J, Bernard-Bonnin AC, Gervais P, Ovetchkine P, Gauthier M (eds). Dictionnaire de thérapeutique pédiatrique Weber, 2e édition. Boucherville. Gaëtan Morin, 2007; 833-838.

Tyrosine - Mitchell GA, Rezvani I. Tyrosine. Dans: Kliegman RM, Behrman RE, Henson B, Stanton BF (eds). Nelson Textbook of Pediatric, 18th edition. Philadelphia. Saunders-Elsevier, 2007; 532-536.

Tyrosinemia - Mitchell GA, Alvarez F, Dubois J, Russo P. Tyrosinemia. Dans: Suchy FJ, Sokol R, Baliestreri W (eds). Liver Disease in Childhood - 3e édition. Cambridge. Cambridge University Press, 2007; 694-713.

Organic cation/carnitine transporters - Qureshi IA, Mitchell GA, Elimrani I, Seidman EG. Organic cation/carnitine transporters. Dans: You G, Morris ME (eds). Drug Transporters: Molecular Characterization and Role in Drug Disposition. John Wiley and Sons, 2007; 35-50.

Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis - Debray FG, Mitchell GA, Allard P, Robinson BH, Hanley JA, Lambert MA. Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. Clin Chem 2007; 53(5): 916-921.

La cirrhose amérindienne infantile - Richter A, Mitchell GA, Rasquin A. La cirrhose amérindienne infantile. Médecine Sciences 2007; 23(11): 1002-1007.

Hépatomégalie - Anctil S, Bernard-Bonnin A-C, Mitchell GA, Martin S. Hépatomégalie. Dans: Turgeon J, Bernard-Bonnin AC, Gervais P, Ovetchkine P, Gauthier M (eds). Dictionnaire de thérapeutique pédiatrique Weber, 2e édition. Boucherville. Gaëtan Morin, 2007; 609-615.

Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation - Debray FG, Lambert MA, Lortie A, Vanasse M, Mitchell GA. Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation. Am J Med Genet A 2007; 143(17): 2046-2051.

3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency with reversible white matter changes after treatment - Zafeiriou DI, Vargiami E, Mayapetek E, Augoustidou-Savvopoulou P, Mitchell GA. 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency with reversible white matter changes after treatment. Pediatr Neurol 2007; 37(1): 47-50.

Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases - Debray FG, Lambert MA, Chevalier I, Robitaille Y, Décarie JC, Robinson B, Shoubridge EA, Mitchell GA. Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases. Pediatrics 2007; 119(4): 722-733.

Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): Identification of a K(m) mutant and an analysis of the mutational sites in the structure - Sakurai S, Fukao T, Haapalainen AM, Zhang G, Yamada K, Lilliu F, Yano S, Robinson P, Gibson MK, Wanders RJ, Mitchell GA, Wierenga RK, Kondo N. Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): Identification of a K(m) mutant and an analysis of the mutational sites in the structure. Mol Genet Metab 2007; 90(4): 370-378.

Hypotonie du nourrisson - St-Jacques R, Vanasse M, Mitchell GA, Nuyt A-M. Hypotonie du nourrisson. Dans: Turgeon J, Bernard-Bonnin AC, Gervais P, Ovetchkine P, Gauthier M (eds). Dictionnaire de thérapeutique pédiatrique Weber, 2e édition. Boucherville. Gaëtan Morin, 2007; 657-662.

Décompensation aiguë de maladies héréditaires du métabolisme - Jouvet P, Saudubray JM, de Pascau L, Mitchell GA, Lambert MA. Décompensation aiguë de maladies héréditaires du métabolisme. Dans: Lacroix J, Gauthier M, Hubert P, Leclerc F, Gaudreault P (eds). Urgences et soins intensifs pédiatriques. Montréal et Paris. Éditions du CHU Sainte-Justine et Elsevier Masson, 2007; 843-863.

État de mal convulsif - Gaillot T, Carmant L, Guillois B, Mitchell GA, Lacroix J, Gaudreault P, Rousseau E. État de mal convulsif. Dans: Lacroix J, Gauthier M, Hubert P, Leclerc F, Gaudreault P (eds). Urgences et soins intensifs pédiatriques. Montréal et Paris. Éditions du CHU Sainte-Justine et Elsevier Masson, 2007; 613-631.

Recurrent pancreatitis in mitochondrial cytopathy - Debray FG, Drouin E, Herzog D, Lortie A, Lambert MA, Garel L, Mitchell GA, Michaud JL. Recurrent pancreatitis in mitochondrial cytopathy. Am J Med Genet A 2006; 140A(21): 2330-2335 .

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency - Debray FG, Lambert MA, Vanasse M, Décarie JC, Cameron C, Levandovskiy V, Robinson BH, Mitchell GA. Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency. Eur J Pediatr 2006; 165(7): 462-466.

Duration of extracorporeal therapy in acute maple syrup urine disease: a kinetic model - Phan V, Clermont MJ, Mérouani A, Litalien C, Tucci M, Lambert MA, Mitchell GA, Jouvet P. Duration of extracorporeal therapy in acute maple syrup urine disease: a kinetic model. Pediatr Nephrol 2006; 21(5): 698-704.

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I - Magera MJ, Gunawardena N, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D. Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. Mol Genet Metab 2006; 88(1): 16-21.

Beta cell compensation for insulin resistance in Zucker fatty rats: increased lipolysis and fatty acid signalling - Nolan CJ, Leahy J, Delghingaro-Augusto V, Moibi J, Soni K, Peyot ML, Fortier M, Guay C, Lamontagne J, Barbeau A, Przybytkowski E, Joly E, Masiello P, Wang S, Mitchell GA, Prentki M. Beta cell compensation for insulin resistance in Zucker fatty rats: increased lipolysis and fatty acid signalling. Diabetologia 2006; 49(9): 2120-2130.

Population history and its impact on medical genetics in Quebec - Laberge AM, Michaud JL, Richter A, Lemyre E, Lambert MA, Brais B, Mitchell GA. Population history and its impact on medical genetics in Quebec. Clin Genet 2005; 68(4): 287-301.

Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis - Yu B, Mitchell GA, Richter A. Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis. Exp Cell Res 2005; 311(2): 218-228.

Adipocyte death defines macrophage localization and function in adipose tissue of obese mice and humans - Cinti S, Mitchell GA, Barbatelli G, Murano I, Ceresi E, Faloia E, Wang SP, Greenberg AS, Obin MS. Adipocyte death defines macrophage localization and function in adipose tissue of obese mice and humans. J Lipid Res 2005; 46(11): 2347-2355.

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. - Park SY, Kim HJ, Wang S, Higashimori T, Dong J, Kim Y, Cline G, Li H, Prentki M, Shulman HM, Mitchell GA, Kim JK. 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.. Am J Physiol Endocrinol Metab 2005; 289(1): E30-39.

Population history and its impact on medical genetics in Quebec - Laberge AM, Michaud JL, Richter A, Lemyre E, Lambert MA, Brais B, Mitchell GA. Population history and its impact on medical genetics in Quebec. Clin Genet 2005; 68(4): 287-301.

Human hormone-sensitive lipase (HSL): expression in white fat corrects the white adipose phenotype of HSL-deficient mice - Fortier M, Soni K, Laurin N, Wang SP, Mauriege P, Jirik F, Mitchell GA. Human hormone-sensitive lipase (HSL): expression in white fat corrects the white adipose phenotype of HSL-deficient mice. J Lipid Res 2005; 46(9): 1860-1867.

Pathways and control of ketone body metabolism: on the fringe of lipid biochemistry - Fukao T, Lopaschuk GD, Mitchell GA. Pathways and control of ketone body metabolism: on the fringe of lipid biochemistry. Prostaglandins Leukot Essent Fatty Acids 2004; 70(3): 243-251.

Hormone-sensitive lipase has a role in lipid signaling for insulin secretion but is nonessential for the incretin action of glucagon-like Peptide 1 - Peyot ML, Nolan CJ, Soni K, Joly E, Lussier R, Corkey BE, Wang SP, Mitchell GA, Prentki M. Hormone-sensitive lipase has a role in lipid signaling for insulin secretion but is nonessential for the incretin action of glucagon-like Peptide 1. Diabetes 2004; 53(7): 1733-1742.

L-Carnitine transport in human placental brush-border membranes is mediated by the sodium-dependent organic cation transporter OCTN2 - Lahjouji K, Elimrani I, Lafond J, Leduc L, Qureshi IA, Mitchell GA. L-Carnitine transport in human placental brush-border membranes is mediated by the sodium-dependent organic cation transporter OCTN2. Am J Physiol Endocrinol Metab 2004; 287(2): C263-269.

Carboxylesterase 3 (EC 3.1.1.1) is a major adipocyte lipase - Soni K, Lehner R, Metalnikov P, O'Donnell P, Semache M, Gao W, Ashman K, Pshezhetsky AV, Mitchell GA. Carboxylesterase 3 (EC 3.1.1.1) is a major adipocyte lipase. J Biol Chem 2004; 279(39): 40683-40689.

Hormone-sensitive lipase deficiency in mice: lipid energy homeostasis during fasting, beta adrenergic stimulation and dietary fat loading - Fortier M, Wang S, Mfuma L, Semache M, Li H, Levy E, Richard D, Mitchell GA. Hormone-sensitive lipase deficiency in mice: lipid energy homeostasis during fasting, beta adrenergic stimulation and dietary fat loading. Am J Physiol Endocrinol Metab 2004; 287(2): E282-288.

Expression of human hormone-sensitive lipase (HSL) in postmeiotic germ cells confers normal fertility to HSL-deficient mice - Wang SP, Chung S, Soni K, Bourdages H, Hermo L, Trasler J, Mitchell GA. Expression of human hormone-sensitive lipase (HSL) in postmeiotic germ cells confers normal fertility to HSL-deficient mice. Endocrinology 2004; 145(12): 5688-5693.

The >D15 kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid PCR-based diagnostic assay and prevalence in Québec - Simard LR, Viel J, Lambert MA, Paradis G, Levy E, Delvin EE, Mitchell GA. The >D15 kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid PCR-based diagnostic assay and prevalence in Québec. Clin Genet 2004; 65(3): 202-208.

A combined syndrome of juvenile polyposis and heredity haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4) - Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell GA, Drouin E, Westermann CJ, Marchuk DA. A combined syndrome of juvenile polyposis and heredity haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004; 363(9412): 852-859.

Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: Use of acetyldithio-coenzyme A to monitor product enolization - Tuinstra RL, Mitchell GA, Miziorko H, Wang CZ. Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: Use of acetyldithio-coenzyme A to monitor product enolization. Biochemistry 2004; 43(18): 5287-5295.

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 - Xu F, Morin C, Mitchell GA, Ackerley C, Robinson BH. 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. Biochem J 2004; 382(Pt 1): 331-336.

Long-term follow-up of a new case of liver glycogen synthase deficiency - Laberge AM, Mitchell GA, Van de Werve G, Lambert MA. Long-term follow-up of a new case of liver glycogen synthase deficiency. Am J Med Genet 2003; 120(A): 19-22.

Oxidative tyrosylation of high density lipoproteins impairs cholesterol efflux from mouse J774 macrophages: role of scavenger receptors, classes A and B - Suc I, Brunet S, Mitchell GA, Rivard G-É, Levy E. Oxidative tyrosylation of high density lipoproteins impairs cholesterol efflux from mouse J774 macrophages: role of scavenger receptors, classes A and B. J Cell Sci 2003; 116(Pt 1): 89-99.

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics - Mootha VM, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci USA 2003; 100(2): 605-610.

Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cells - Elimrani I, Lahjouji K, Seidman EG, Roy MJ, Mitchell GA, Qureshi IA. Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cells. Am J Physiol Gastrointest Liver Physiol 2003; 284(5): G863-871.

The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: A double-blind randomized crossover trial - Liet JM, Pelletier V, Robinson BH, Laryea MD, Wendel U, Morneau S, Morin C, Mitchell GA, Lacroix J. The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: A double-blind randomized crossover trial. J Pediatr 2003; 142(1): 62-66.

Hormone-sensitive lipase deficiency in mice causes lipid storage in the adrenal cortex and impaired corticosterone response to corticotropin stimulation - Li H, Brochu M, Wang SP, Rochdi L, Côté M, Mitchell GA, Gallo-Payet N. Hormone-sensitive lipase deficiency in mice causes lipid storage in the adrenal cortex and impaired corticosterone response to corticotropin stimulation. Endocrinology 2002; 143 (9): 3333-3340.

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders - Corzo D, Gibson W, Johnson K, Mitchell GA, Lepage G, Cox G, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Walkins PA, Moser AB, Steinberg SJ. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. Am J Hum Genet 2002; 70(6): 1520-1531.

Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib - Vuillaumier-Barrot S, Le Bizec C, de Lonlay P, Barnier A, Mitchell GA, Pelletier V, Prévost C, Saudubray JM, Durand G, Seta N. Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib. J Med Genet 2002; 39(11): 849-851.

A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis - Chagnon P, Michaud JL, Mitchell GA, Mercier J, Marion JF, Drouin E, Rasquin A, Hudson TJ, Richter A. A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am J Hum Genet 2002; 71(6): 1443-1449.

L-Carnitine transport in mouse renal and intestinal brush-border and basolateral membrane vesicles - Lahjouji K, Malo C, Mitchell GA, Qureshi IA. L-Carnitine transport in mouse renal and intestinal brush-border and basolateral membrane vesicles. Biochim Biophys Acta 2002; 1558(1): 82-93.

A heterozygote phenotype is present in the jvs+/- mutant mouse liver - Lahjouji K, Elimrani I, Wu J, Mitchell GA, Qureshi IA. A heterozygote phenotype is present in the jvs+/- mutant mouse liver. Mol Genet Metab 2002; 76(1): 76-80.

Tyrosinemia - Mitchell GA, Alvarez F, Dubois J, Russo P. Tyrosinemia. Dans: Suchy FJ, Sokol R, Baliestreri W (eds). Liver Disease in Chilhood - 2ème édition. St-Louis. Mosby, 2001; 667-686.

Hypertyrosinemia - Mitchell GA, Grompe M, Lambert MA, Tanguay R. Hypertyrosinemia. Dans: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease, 8e édition. New York. McGraw Hill, 2001; 1777-1806.

Ketone body metabolism - Mitchell GA, Fukao T. Ketone body metabolism. Dans: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease, 8e édition. New York. McGraw Hill, 2001; 2327-2356.

Tyrosinemia: a review - Russo P, Mitchell GA, Tanguay R. Tyrosinemia: a review. Pediatr Dev Pathol 2001; 4(3): 212-221.

Carnitine transport by organic cation transporters and systemic carnitine deficiency - Lahjouji K, Mitchell GA, Qureshi IA. Carnitine transport by organic cation transporters and systemic carnitine deficiency. Mol Genet Metab 2001; 73(4): 287-297.

The polymorphism at codon 54 of the fabp2 gene increases fat absorption in human intestinal explants - Levy E, Ménard D, Delvin EE, Stan S, Mitchell GA, Lambert MA, Ziv E, Feoli-Fonseca J-C, Seidman EG. The polymorphism at codon 54 of the fabp2 gene increases fat absorption in human intestinal explants. J Biol Chem 2001; 276(43): 39679-39684.

Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Clinical course and description of causal mutations in two patients - Bouchard L, Robert M-F, Vinarov D, Stanley CA, Thompson GN, Morris A, Léonard JV, Quant P, Hsu BYL, Boneh A, Boukaftane Y, Ashmarina L, Miziorko H, Mitchell GA. Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Clinical course and description of causal mutations in two patients. Pediatr Res 2001; 49(3): 326-331.

A genome-wide linkage disequilibrium scan localizes the Saguenay-Lac Saint-Jean COX Deficiency gene to 2p16 - Lee N, Daly M, Delmonte T, Lander ES, Xu F, Hudson T, Mitchell GA, Morin C, Robinson BH, Rioux J. A genome-wide linkage disequilibrium scan localizes the Saguenay-Lac Saint-Jean COX Deficiency gene to 2p16. Am J Hum Genet 2001; 68(2): 397-410.

A role for hormone-sensitive lipase in glucose-stimulated insulin secretion. A study in hormone-sensitive lipase-deficient mice - Roduit R, Masiello P, Wang SP, Hong L, Mitchell GA, Prentki M. A role for hormone-sensitive lipase in glucose-stimulated insulin secretion. A study in hormone-sensitive lipase-deficient mice. Diabetes 2001; 50(9): 1970-1975.

Infertility and testicular defects in hormone-sensitive lipase-deficient mice - Chung S, Wang S, Pan L, Mitchell GA, Trasler J, Hermo L. Infertility and testicular defects in hormone-sensitive lipase-deficient mice. Endocrinology 2001; 142(10): 4272-4281.

Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency - Berry GT, Fukao T, Mitchell GA, Mazur A, Ciafre M, Gibson J, Kondo N, Palmieri MJ. Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency. J Inherit Metab Dis 2001; 24(5): 587-595.

The adipose tissue phenotype of hormone-sensitive lipase deficiency in mice - Wang SP, Laurin N, Himms-Hagen J, Rudnicki M, Levy E, Robert M-F, Pan L, Oligny LL, Mitchell GA. The adipose tissue phenotype of hormone-sensitive lipase deficiency in mice. Obes Res 2001; 9(2): 119-128.

Sim 1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus - Michaud JL, Boucher F, Melnyk A, Gauthier F, Goshu E, Levy E, Mitchell GA, Himms-Hagen J, Fan CM. Sim 1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus. Hum Mol Genet 2001; 10(14): 1465-1473.

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 - Fukao T, Mitchell GA, Song X-Q, Nakamura H, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmeri S, Kassovska-Bratinova S, Kondo N. 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. Genomics 2000; 68: 144-151.

Hormone-sensitive lipase gene is transcribed from at least five alternative first exons in mouse adipose tissue - Laurin N, Wang SP, Mitchell GA. Hormone-sensitive lipase gene is transcribed from at least five alternative first exons in mouse adipose tissue. Mamm Genome 2000; 11(11): 972-978.

Localization of a necessive gene for North American Indian childhood cirrhosis to chromosome region 16q22 and identification of a shared haplotype - Bétard C, Rasquin A, Brewer C, Drouin E, Clark S, Verner A, Darmond-Zwaig C, Fortin J, Mercier J, Morgan K, Richter A, Hudson T, Mitchell GA. Localization of a necessive gene for North American Indian childhood cirrhosis to chromosome region 16q22 and identification of a shared haplotype. Am J Hum Genet 2000; 67: 222-228.

North American Indian cirrhosis in children: a review of 30 cases - Drouin E, Russo P, Tuchweber B, Mitchell GA, Rasquin A. North American Indian cirrhosis in children: a review of 30 cases. J Pediatr Gastroenterol Nutr 2000; 31(4): 395-404.

Other inherited cholestatic disorders - Drouin E, Rasquin A, Mitchell GA. Other inherited cholestatic disorders. Dans: Allan-Walker A, Duric PR, Hamilton R, Walker-Smith JA, Watkins JB (eds). Pediatric Gastrointestinal Disease - Pathophysiology, Diagnosis, Management, 3rd Edition. St-Louis. CV Mosby Co, 2000; 1211-1218.

Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency - Morin C, Dubé J, Robinson BH, Lacroix J, Michaud J, de Braekeller M, Geoffroy G, Lortie A, Blanchette BS, Lambert MA, Mitchell GA. Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency. Ann Neurol 1999; 45(3): 389-392.

Hyperornithinaemia - hyperammonemia - homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter - Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert MA, Mitchell GA, Valle D. Hyperornithinaemia - hyperammonemia - homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Nat Genet 1999; 22: 151-158.

Pyruvate carboxylase deficiency: prenatal onset of ischemia-like grains lesions in two sibs with the acute neonatal form - Brun N, Robitaille Y, Grignon A, Robinson BH, Mitchell GA, Lambert MA. Pyruvate carboxylase deficiency: prenatal onset of ischemia-like grains lesions in two sibs with the acute neonatal form. Am J Hum Genet 1999; 84: 94-101.

Cerebral vascular complication associated with severe hyperhomocysteinemia in a cystinotic child on chronic dialysis - Mérouani A, Genest J Jr, Rozen R, Dubois J, Mitchell GA, Lambert MA, Robitaille P. Cerebral vascular complication associated with severe hyperhomocysteinemia in a cystinotic child on chronic dialysis. Pediatr Nephrol 1999; 13(1): 73-76.

3-Hydroxy-3-methylglutaryl coenzyme A lyase: processing and half-lives in peroxisomes and mitochondria - Ashmarina L, Pshezhetsky AV, Mitchell GA. 3-Hydroxy-3-methylglutaryl coenzyme A lyase: processing and half-lives in peroxisomes and mitochondria. J Lipid Res 1999; 40: 70-75.

Inborn errors of ketogenesis - Mitchell GA, Wang SP, Ashmarina L, Robert M-F, Bouchard L, Laurin N, Kassovska-Bratinova S, Boukaftane Y. Inborn errors of ketogenesis. Biochem Soc Trans 1998; 26: 136-140.

HMG CoA lyase deficiency: Identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q - Mitchell GA, Ozand PT, Robert M-F, Ashmarina L, Roberts J, Gibson KM, Wanders RJ, Wang S, Chevalier I, Plochel E, Miziorko H. HMG CoA lyase deficiency: Identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q. Am J Hum Genet 1998; 62: 295-300.

Le NTBC: Le 2-(2-Nitro-4-Trifluoromethyl Benzoyl)-1,3-Cyclohexanedione dans la tyrosinémie - Bussières J-F, Mitchell GA, and the Québec NTBC Study Group, Dubois J. Le NTBC: Le 2-(2-Nitro-4-Trifluoromethyl Benzoyl)-1,3-Cyclohexanedione dans la tyrosinémie. Québec Pharmacie 1998; 45: 361-367.

3-Hydroxy-3-methylglutaryl-CoA lyase (HL). Gene targeting cause prenatal lethality in HL-deficient mice - Wang SP, Oligny L, Vachon C, Robert M-F, Ashmarina L, Mitchell GA. 3-Hydroxy-3-methylglutaryl-CoA lyase (HL). Gene targeting cause prenatal lethality in HL-deficient mice. Hum Mol Genet 1998; 17: 2057-2062.

Succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency: Two pathogenic mutations, V133E and C456F, in Japanese sibling - Song X-Q, Fukao T, Watanabe H, Shintaku H, Hirayama K, Kassovska-Bratinova S, Kondo N, Mitchell GA. Succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency: Two pathogenic mutations, V133E and C456F, in Japanese sibling. Hum Mutat 1998; 12: 83-88.

Saguenay Lac Saint-Jean cytochrome oxidase (COX) deficiency: Sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc - Lee N, Morin C, Mitchell GA, Robinson BH. Saguenay Lac Saint-Jean cytochrome oxidase (COX) deficiency: Sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc. Biochim Biophys Acta 1998; 1406: 1-4.

Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene - Richard C, Tranchemontagne J, Elsliger M-A, Mitchell GA, Potier M, Pshezhetsky AV. Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene. Hum Mutat 1998; 11: 461-469.

The human mitochondrial 3-Hydroxy-3-Methylglutaryl CoA synthase gene (HMGCS2): Characterization of an intragenic microsatellite (D1S3752) and gene mapping with radiation hybrids - Bouchard L, Boukaftane Y, Bétard C, Hudson T, Mitchell GA. The human mitochondrial 3-Hydroxy-3-Methylglutaryl CoA synthase gene (HMGCS2): Characterization of an intragenic microsatellite (D1S3752) and gene mapping with radiation hybrids. Hum Mutat 1998; 12: 291.

Médicaments orphelins et maladies rares? La malchance d'être unique au monde - 1ère partie - Bussières J-F, Béliveau L, Mitchell GA, Lambert MA. Médicaments orphelins et maladies rares? La malchance d'être unique au monde - 1ère partie. Pharmactuel 1998; 32(6): 14-18.

Médicaments orphelins et maladies rares? La malchance d'être unique au monde - 2ème partie - Bussières J-F, Béliveau L, Mitchell GA, Lambert MA. Médicaments orphelins et maladies rares? La malchance d'être unique au monde - 2ème partie. Pharmactuel 1998; 32(1): 14-18.

Enzymes of ketone in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA): 3-Ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases - Fukao T, Mitchell GA, Yamaguchi S, Sukegawa K, Orii T, Kondo N. Enzymes of ketone in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA): 3-Ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases. Pediatr Res 1997; 42: 498-502.

Cloning and characterization of the human mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase gene - Boukaftane Y, Mitchell GA. Cloning and characterization of the human mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase gene. Gene 1997; 195: 121-126.

Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): Development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency - Song X-Q, Fukao T, Mitchell GA, Kassovska-Bratinova S, Ugarte M, Wanders RJA, Hirayama K, Shintaku H, Churchill P, Watanabe H, Orii T, Kondo N. Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): Development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency. Biochim Biophys Acta 1997; 1360: 151-156.

Chromosomal localization of the human liver form of cytochrome C oxidase subunit VIIa gene - Merante F, Duncan AMV, Mitchell GA, Duff C, Rommens J, Robinson BH. Chromosomal localization of the human liver form of cytochrome C oxidase subunit VIIa gene. Genome 1997; 40: 318-324.

Hormone-sensitive lipase (Lipe): Sequence analysis of the 129Sv mouse lipe gene - Sztrolovics R, Wang SP, Lapierre P, Chen HS, Robert M-F, Mitchell GA. Hormone-sensitive lipase (Lipe): Sequence analysis of the 129Sv mouse lipe gene. Mamm Genome 1997; 8: 86-89.

La thérapie en génétique - Mitchell GA. La thérapie en génétique. Le Médecin du Québec 1996; juillet: 35-39.

Bad guy makes good - Mitchell GA. Bad guy makes good. Hum Exp Toxicol 1996; 15: 179-181.

Mutation analysis in Canadian families with choroideremia - Nesslinger N, Mitchell GA, Strasberg P, MacDonald IM. Mutation analysis in Canadian families with choroideremia. Ophthalmic Genet 1996; 17: 47-52.

Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine-233 as an active site residue - Roberts JR, Mitchell GA, Miziorko H. Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine-233 as an active site residue. J Biol Chem 1996; 271: 24604-24609.

Complementary DNA for 12-kilodalton B-cell growth factor: misassigned - Zietkiewicz E, Makalowski W, Mitchell GA, Labuda D. Complementary DNA for 12-kilodalton B-cell growth factor: misassigned. Science 1996; 274: 631.

Succinyl CoA: 3-Ooxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13 and mutation detection in a SCOT-deficient patient - Kassovska-Bratinova S, Fukao T, Song X-Q, Duncan AMV, Chen HS, Robert M-F, Pérez-Cerda C, Ugarte M, Chartrand P, Vobecky S, Kondo N, Mitchell GA. Succinyl CoA: 3-Ooxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13 and mutation detection in a SCOT-deficient patient. Am J Hum Genet 1996; 59: 519-529.

3-hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene cloning and detection of large gene deletions in two unrelated HL-deficient patients - Wang SP, Robert M-F, Gibson KM, Wanders RJA, Mitchell GA. 3-hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene cloning and detection of large gene deletions in two unrelated HL-deficient patients. Genomics 1996; 33: 99-104.

Characterization of the HMG-CoA lyase precursor, a protein targeted to peroxisomes and mitochondria - Ashmarina L, Robert M-F, Elsliger M-A, Mitchell GA. Characterization of the HMG-CoA lyase precursor, a protein targeted to peroxisomes and mitochondria. Biochem J 1996; 315: 71-75.

Chronic sodium benzoate therapy in children with inborn errors of urea synthesis: effect on carnitine metabolism and ammonia nitrogen removal - Feoli-Fonseca J-C, Lambert MA, Mitchell GA, Melançon SB, Dallaire L, Millington DS, Qureshi IA. Chronic sodium benzoate therapy in children with inborn errors of urea synthesis: effect on carnitine metabolism and ammonia nitrogen removal. Biochem Mol Med 1996; 57: 31-36.

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