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Grant Mitchell

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Jean Larochelle; Sven Lindstedt; Bruno Maranda; Serge Melançon; Aicha Merouani; John Mitchell; Guy Parizeault; Luc Pelletier; Véronique Phan; Piero Rinaldo; C Ronald Scott; Charles Scriver; Fernando Alvarez; Jean-François Bussières; Isabelle Chevalier; Louis Dallaire; Josée Dubois; Frédéric Faucher; Daphna Fenyves; Paul Goodyer; André Grenier; Elisabeth Holme; Rachel Laframboise; Marie Lambert; Grant A Mitchell
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.
Jiang Wei Wu; Stéphanie Casavant; Alain Moreau; Shu Pei Wang; Gong-She Yang; Grant A Mitchell
Fasting energy homeostasis in mice with adipose deficiency of desnutrin/adipose triglyceride lipase.
François-Guillaume Debray; Charles Morin; Annie Janvier; Josée Villeneuve; Bruno Maranda; Rachel Laframboise; Jacques Lacroix; Jean-Claude Decarie; Yves Robitaille; Marie Lambert; Brian H Robinson; Grant A Mitchell
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

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All Publications

2012: Jean Larochelle; Sven Lindstedt; Bruno Maranda; Serge Melançon; Aicha Merouani; John Mitchell; Guy Parizeault; Luc Pelletier; Véronique Phan; Piero Rinaldo; C Ronald Scott; Charles Scriver; Fernando Alvarez; Jean-François Bussières; Isabelle Chevalier; Louis Dallaire; Josée Dubois; Frédéric Faucher; Daphna Fenyves; Paul Goodyer; André Grenier; Elisabeth Holme; Rachel Laframboise; Marie Lambert; Grant A Mitchell
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.
Molecular genetics and metabolism 2012;107(1-2):49-54.
2012: Jiang Wei Wu; Stéphanie Casavant; Alain Moreau; Shu Pei Wang; Gong-She Yang; Grant A Mitchell
Fasting energy homeostasis in mice with adipose deficiency of desnutrin/adipose triglyceride lipase.
Endocrinology 2012;153(5):2198-207.
2011: François-Guillaume Debray; Charles Morin; Annie Janvier; Josée Villeneuve; Bruno Maranda; Rachel Laframboise; Jacques Lacroix; Jean-Claude Decarie; Yves Robitaille; Marie Lambert; Brian H Robinson; Grant A Mitchell
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.
Journal of medical genetics 2011;48(3):183-9.
2010: François-Guillaume Debray; Marie Lambert; Pierre Allard; Grant A Mitchell
Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome.
Journal of child neurology 2010;25(8):1000-2.
2010: Ana Siles; Grant A Mitchell; Nagib S Dahdah
An infant with mucolipidosis-II and an atretic orifice of the left coronary artery.
Cardiology in the young 2010;20(1):97-9.
2009: Evgeny Kanshin; Shupei Wang; Lyudmila Ashmarina; Michael Fedjaev; Ilya Nifant'ev; Grant A Mitchell; Alexey V Pshezhetsky
The stoichiometry of protein phosphorylation in adipocyte lipid droplets: analysis by N-terminal isotope tagging and enzymatic dephosphorylation.
Proteomics 2009;9(22):5067-77.
2009: Bin Yu; Grant A Mitchell; Andrea Richter
Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1.
Experimental cell research 2009;315(18):3086-98.
2009: Isabelle De Bie; Sonia Dal Pozzo Nizard; Grant A Mitchell
Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type.
Prenatal diagnosis 2009;29(3):266-70.
2008: Shupei Wang; Krishnakant G Soni; Meriem Semache; Stéphanie Casavant; Mélanie Fortier; Linge Pan; Grant A Mitchell
Lipolysis and the integrated physiology of lipid energy metabolism.
Molecular genetics and metabolism 2008;95(3):117-26.
2008: François-Guillaume Debray; Marie Lambert; Grant A Mitchell
Disorders of mitochondrial function.
Current opinion in pediatrics 2008;20(4):471-82.
2008: François-Guillaume Debray; Yvan Boulanger; Abdesslem Khiat; Jean-Claude Decarie; Jacqueline Orquin; M-S Roy; Anne Lortie; F Ramos; N M Verhoeven; E Struys; H J Blom; C Jakobs; E Levy; Grant A Mitchell; Marie Lambert
Reduced brain choline in homocystinuria due to remethylation defects.
Neurology 2008;71(1):44-9.
2008: Grant A Mitchell; Nicolas Gauthier; Alain Lesimple; Shu Pei Wang; Orval Mamer; Ijaz Qureshi
Hereditary and acquired diseases of acyl-coenzyme A metabolism.
Molecular genetics and metabolism 2008;94(1):4-15.
2008: François-Guillaume Debray; Aicha Merouani; Marie Lambert; Pierre Brochu; Chantal Bernard; Brian H Robinson; Grant A Mitchell
Acute tubular dysfunction with Fanconi syndrome: a new manifestation of mitochondrial cytopathies.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2008;51(4):691-6.
2008: Louis Hermo; Shari Chung; Mary Gregory; Charles E Smith; Shu Pei Wang; Mohamed El-Alfy; Daniel G Cyr; Grant A Mitchell; Jacquetta M Trasler
Alterations in the testis of hormone sensitive lipase-deficient mice is associated with decreased sperm counts, sperm motility, and fertility.
Molecular reproduction and development 2008;75(4):565-77.
2008: François-Guillaume Debray; Marie Lambert; R Gagne; Bruno Maranda; Rachel Laframboise; N MacKay; Brian H Robinson; Grant A Mitchell
Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
Neuropediatrics 2008;39(1):20-3.
2007: Andrea Richter; Grant A Mitchell; Andrée Rasquin
[North American Indian childhood cirrhosis (NAIC)].
Médecine sciences : M/S 2007;23(11):1002-7.
2007: François-Guillaume Debray; Marie Lambert; Anne Lortie; Michel Vanasse; Grant A Mitchell
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation.
American journal of medical genetics. Part A 2007;143A(17):2046-51.
2007: François-Guillaume Debray; Grant A Mitchell; Pierre Allard; Brian H Robinson; James A Hanley; Marie Lambert
Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.
Clinical chemistry 2007;53(5):916-21.
2007: François-Guillaume Debray; Marie Lambert; Isabelle Chevalier; Yvonne Robitaille; Jean-Claude Decarie; Eric A Shoubridge; Brian H Robinson; Grant A Mitchell
Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases.
Pediatrics 2007;119(4):722-33.
2006: François-Guillaume Debray; Eric Drouin; Denise Herzog; Anne Lortie; Marie Lambert; Laurent Garel; Grant A Mitchell; Jacques L Michaud
Recurrent pancreatitis in mitochondrial cytopathy.
American journal of medical genetics. Part A 2006;140(21):2330-5.
2006: Christopher J Nolan; J L Leahy; Viviane Delghingaro-Augusto; Jacob A Moibi; Krishnakant Soni; Marie-Line Peyot; Mélanie Fortier; C Guay; J Lamontagne; A Barbeau; Ewa Przybytkowski; Erik Joly; Pellegrino Masiello; S Wang; Grant A Mitchell; Marc Prentki
Beta cell compensation for insulin resistance in Zucker fatty rats: increased lipolysis and fatty acid signalling.
Diabetologia 2006;49(9):2120-30.
2006: François-Guillaume Debray; Marie Lambert; Michel Vanasse; Jean-Claude Decarie; Jessie Cameron; Valeriy Levandovskiy; Brian H Robinson; Grant A Mitchell
Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.
European journal of pediatrics 2006;165(7):462-6.
2005: Bin Yu; Grant A Mitchell; Andrea Richter
Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis.
Experimental cell research 2005;311(2):218-28.
2005: Anne-Marie Laberge; J Michaud; A Richter; E Lemyre; Marie Lambert; Bernard Brais; Grant A Mitchell
Population history and its impact on medical genetics in Quebec.
Clinical genetics 2005;68(4):287-301.
2005: Mélanie Fortier; Krishnakant Soni; Nancy Laurin; Shu Pei Wang; Pascale Mauriège; Frank R Jirik; Grant A Mitchell
Human hormone-sensitive lipase (HSL): expression in white fat corrects the white adipose phenotype of HSL-deficient mice.
Journal of lipid research 2005;46(9):1860-7.
2004: Shu Pei Wang; Shari Chung; Krishnakant Soni; Hugo Bourdages; Louis Hermo; Jacquetta M Trasler; Grant A Mitchell
Expression of human hormone-sensitive lipase (HSL) in postmeiotic germ cells confers normal fertility to HSL-deficient mice.
Endocrinology 2004;145(12):5688-93.
2004: Krishnakant Soni; Richard Lehner; Pavel Metalnikov; Paul O'Donnell; Meriem Semache; Wenhui Gao; Keith Ashman; Alexey V Pshezhetsky; Grant A Mitchell
Carboxylesterase 3 (EC 3.1.1.1) is a major adipocyte lipase.
The Journal of biological chemistry 2004;279(39):40683-9.
2004: Mélanie Fortier; Shu Pei Wang; Pascale Mauriège; Meriem Semache; Léandra Mfuma; Hong Li; Emile Levy; Denis Richard; Grant A Mitchell
Hormone-sensitive lipase-independent adipocyte lipolysis during beta-adrenergic stimulation, fasting, and dietary fat loading.
American journal of physiology. Endocrinology and metabolism 2004;287(2):E282-8.
2004: Karim Lahjouji; Ihsan Elimrani; Julie Lafond; Line Leduc; Ijaz Qureshi; Grant A Mitchell
L-Carnitine transport in human placental brush-border membranes is mediated by the sodium-dependent organic cation transporter OCTN2.
American journal of physiology. Cell physiology 2004;287(2):C263-9.
2004: Marie-Line Peyot; Christopher J Nolan; Krishnakant Soni; Erik Joly; Roxane Lussier; Barbara E Corkey; Shu Pei Wang; Grant A Mitchell; Marc Prentki
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):1733-42.
2004: Toshiyuki Fukao; Gary D Lopaschuk; Grant A Mitchell
Pathways and control of ketone body metabolism: on the fringe of lipid biochemistry.
Prostaglandins, leukotrienes, and essential fatty acids 2004;70(3):243-51.
2003: Anne-Marie Laberge; Grant A Mitchell; GERALD VAN DE WERVE; Marie Lambert
Long-term follow-up of a new case of liver glycogen synthase deficiency.
American journal of medical genetics. Part A 2003;120A(1):19-22.
2003: Ihsan Elimrani; Karim Lahjouji; Ernest Seidman; Marie-Josee Roy; Grant A Mitchell; Ijaz Qureshi
Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cells.
American journal of physiology. Gastrointestinal and liver physiology 2003;284(5):G863-71.
2002: Karim Lahjouji; Ihsan Elimrani; Jie Wu; Grant A Mitchell; Ijaz Qureshi
A heterozygote phenotype is present in the jvs +/- mutant mouse livers.
Molecular genetics and metabolism 2002;76(1):76-80.
2002: Karim Lahjouji; Christiane Malo; Grant A Mitchell; Ijaz Qureshi
L-Carnitine transport in mouse renal and intestinal brush-border and basolateral membrane vesicles.
Biochimica et biophysica acta 2002;1558(1):82-93.
2001: Gerard T Berry; T Fukao; Grant A Mitchell; A Mazur; M Ciafre; J Gibson; N Kondo; Michael J Palmieri
Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency.
Journal of inherited metabolic disease 2001;24(5):587-95.
2001: Raphael Roduit; Pellegrino Masiello; Shu Pei Wang; H Li; Grant A Mitchell; Marc Prentki
A role for hormone-sensitive lipase in glucose-stimulated insulin secretion: a study in hormone-sensitive lipase-deficient mice.
Diabetes 2001;50(9):1970-5.
2001: Karim Lahjouji; Grant A Mitchell; Ijaz Qureshi
Carnitine transport by organic cation transporters and systemic carnitine deficiency.
Molecular genetics and metabolism 2001;73(4):287-97.
2001: Jacques L Michaud; Francine Boucher; A Melnyk; F Gauthier; Eleni Goshu; E Lévy; Grant A Mitchell; Jean Himms-Hagen; Chen-Ming Fan
Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus.
Human molecular genetics 2001;10(14):1465-73.
2001: L Bouchard; MF Robert; D Vinarov; Charles A Stanley; G N Thompson; A Morris; J V Leonard; P Quant; Betty Y L Hsu; A Boneh; Y Boukaftane; Lyudmila Ashmarina; S Wang; Henry M Miziorko; Grant A Mitchell
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients.
Pediatric research 2001;49(3):326-31.
2001: Shu Pei Wang; Nancy Laurin; Jean Himms-Hagen; M A Rudnicki; E Levy; MF Robert; L Pan; L Oligny; Grant A Mitchell
The adipose tissue phenotype of hormone-sensitive lipase deficiency in mice.
Obesity research 2001;9(2):119-28.
2000: Toshiyuki Fukao; Grant A Mitchell; XQ Song; Haruki Nakamura; S Kassovska-Bratinova; KE Orii; James Wraith; G T N Besley; Ronald J A Wanders; K E Niezen-Koning; Gerard T Berry; M Palmieri; Naomi Kondo
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(2):144-51.
2000: Christine Bétard; Andrée Rasquin-Weber; Carl G Brewer; Eric Drouin; S Clark; Andrei Verner; Corinne Darmond-Zwaig; J Fortin; Jocelyne Mercier; Pierre Chagnon; T Mary Fujiwara; Kenneth Morgan; Andrea Richter; Thomas J Hudson; Grant A Mitchell
Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype.
American journal of human genetics 2000;67(1):222-8.
1999: N Brun; Yvonne Robitaille; Andrée Grignon; Brian H Robinson; Grant A Mitchell; Marie Lambert
Pyruvate carboxylase deficiency: prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form.
American journal of medical genetics 1999;84(2):94-101.
1999: C Morin; J Dubé; B H Robinson; J Lacroix; J Michaud; M De Braekeleer; G Geoffroy; Anne Lortie; C Blanchette; M A Lambert; Grant A Mitchell
Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency.
Annals of neurology 1999;45(3):389-92.
1999: Lyudmila Ashmarina; Alexey V Pshezhetsky; Steven S. Branda; Grazia Isaya; Grant A Mitchell
3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria.
Journal of lipid research 1999;40(1):70-5.
1998: Shu Pei Wang; J D Marth; L L Oligny; M Vachon; MF Robert; Lyudmila Ashmarina; Grant A Mitchell
3-Hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient mice.
Human molecular genetics 1998;7(13):2057-62.
1998: Grant A Mitchell; Shu Pei Wang; Lyudmila Ashmarina; MF Robert; G Bouchard; Nancy Laurin; S Kassovska-Bratinova; Y Boukaftane
Inborn errors of ketogenesis.
Biochemical Society transactions 1998;26(2):136-40.
1998: Grant A Mitchell; P T Ozand; MF Robert; Lyudmila Ashmarina; J Roberts; K M Gibson; R J Wanders; S Wang; Isabelle Chevalier; E Plöchl; Henry M Miziorko
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.
American journal of human genetics 1998;62(2):295-300.
1998: XQ Song; Toshiyuki Fukao; H Watanabe; H Shintaku; K Hirayama; S Kassovska-Bratinova; Naomi Kondo; Grant A Mitchell
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings.
Human mutation 1998;12(2):83-8.
1998: C Richard; J Tranchemontagne; MA Elsliger; Grant A Mitchell; M Potier; Alexey V Pshezhetsky
Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene.
Human mutation 1998;11(6):461-9.
1997: Toshiyuki Fukao; XQ Song; Grant A Mitchell; Seiji Yamaguchi; Kazuko Sukegawa; Tadao Orii; Naomi Kondo
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.
Pediatric research 1997;42(4):498-502.
1997: Y Boukaftane; Grant A Mitchell
Cloning and characterization of the human mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase gene.
Gene 1997;195(2):121-6.
1997: XQ Song; Toshiyuki Fukao; Grant A Mitchell; S Kassovska-Bratinova; Magdalena Ugarte; Ronald J A Wanders; K Hirayama; H Shintaku; P Churchill; H Watanabe; Tadao Orii; Naomi Kondo
Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency.
Biochimica et biophysica acta 1997;1360(2):151-6.
1997: R Sztrolovics; Shu Pei Wang; P Lapierre; H S Chen; MF Robert; Grant A Mitchell
Hormone-sensitive lipase (Lipe): sequence analysis of the 129Sv mouse Lipe gene.
Mammalian genome : official journal of the International Mammalian Genome Society 1997;8(2):86-9.
1996: J R Roberts; Grant A Mitchell; Henry M Miziorko
Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue.
The Journal of biological chemistry 1996;271(40):24604-9.
1996: S Kassovska-Bratinova; Toshiyuki Fukao; XQ Song; A M Duncan; H S Chen; MF Robert; Celia Pérez-Cerdá; Magdalena Ugarte; C Chartrand; S Vobecky; Naomi Kondo; Grant A Mitchell
Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.
American journal of human genetics 1996;59(3):519-28.
1996: Lyudmila Ashmarina; MF Robert; MA Elsliger; Grant A Mitchell
Characterization of the hydroxymethylglutaryl-CoA lyase precursor, a protein targeted to peroxisomes and mitochondria.
The Biochemical journal 1996;315 ( Pt 1)():71-5.
1996: Shu Pei Wang; MF Robert; K M Gibson; R J Wanders; Grant A Mitchell
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.
Genomics 1996;33(1):99-104.
1995: Grant A Mitchell; C Jakobs; K M Gibson; MF Robert; A Burlina; Carlo Dionisi Vici; Louis Dallaire
Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
Prenatal diagnosis 1995;15(8):725-9.
1995: Grant A Mitchell; S Kassovska-Bratinova; Y Boukaftane; MF Robert; Shu Pei Wang; Lyudmila Ashmarina; M Lambert; P Lapierre; E Potier
Medical aspects of ketone body metabolism.
Clinical and investigative medicine. Médecine clinique et experimentale 1995;18(3):193-216.
1995: J Michaud; G N Thompson; L C Brody; Gary Steel; Cassandra Obie; G Fontaine; K Schappert; C G Keith; David Valle; Grant A Mitchell
Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.
American journal of human genetics 1995;56(3):616-22.
1995: A Wakazono; Toshiyuki Fukao; S Yamaguchi; T Hori; Tadao Orii; M Lambert; Grant A Mitchell; G W Lee; Takao Hashimoto
Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients.
Human mutation 1995;5(1):34-42.
1994: Lyudmila Ashmarina; N Rusnak; H M Miziorko; Grant A Mitchell
3-Hydroxy-3-methylglutaryl-CoA lyase is present in mouse and human liver peroxisomes.
The Journal of biological chemistry 1994;269(50):31929-32.
1994: S Wang; P Lapierre; MF Robert; J H Nadeau; Grant A Mitchell
Hormone-sensitive lipase maps to proximal chromosome 7 in mice and is genetically distinct from the Ad and Tub loci.
Genomics 1994;24(2):416-7.
1994: Y Boukaftane; A Duncan; S Wang; Damian Labuda; MF Robert; J Sarrazin; K Schappert; Grant A Mitchell
Human mitochondrial HMG CoA synthase: liver cDNA and partial genomic cloning, chromosome mapping to 1p12-p13, and possible role in vertebrate evolution.
Genomics 1994;23(3):552-9.
1994: J R Roberts; C Narasimhan; Paul W Hruz; Grant A Mitchell; Henry M Miziorko
3-Hydroxy-3-methylglutaryl-CoA lyase: expression and isolation of the recombinant human enzyme and investigation of a mechanism for regulation of enzyme activity.
The Journal of biological chemistry 1994;269(27):17841-6.
1994: I Sipilä; David Valle; Grant A Mitchell; L C Brody
[Hyperornithinemia and gyrate atrophy: ornithine aminotransferase gene error causing a Finnish disease].
Duodecim; lääketieteellinen aikakauskirja 1994;110(7):681-6.
1993: Grant A Mitchell; MF Robert; Paul W Hruz; S Wang; G Fontaine; C E Behnke; L M Mende-Mueller; K Schappert; C Lee; K M Gibson; H M Miziorko
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.
The Journal of biological chemistry 1993;268(6):4376-81.
1992: J F Lemay; M A Lambert; Grant A Mitchell; Michel Vanasse; David Valle; J F Arbour; J Dubé; J Flessas; M Laberge; L Lafleur
Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients.
The Journal of pediatrics 1992;121(5 Pt 1):725-30.
1992: L C Brody; Grant A Mitchell; Cassandra Obie; J Michaud; Gary Steel; G Fontaine; MF Robert; I Sipila; M Kaiser-Kupfer; David Valle
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.
The Journal of biological chemistry 1992;267(5):3302-7.
1991: L S Martin; Grant A Mitchell; J Michaud; L C Brody; David Valle
A polymorphic synonymous mutation in human ornithine-delta-aminotransferase (N378N).
Nucleic acids research 1991;19(8):1962.
1991: Grant A Mitchell; D Labuda; G Fontaine; J M Saudubray; J P Bonnefont; S Lyonnet; L C Brody; Gary Steel; Cassandra Obie; David Valle
Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(3):815-9.
1989: Barbara R Migeon; Joyce Axelman; Suzanne M Jan de Beur; David Valle; Grant A Mitchell; K N Rosenbaum
Selection against lethal alleles in females heterozygous for incontinentia pigmenti.
American journal of human genetics 1989;44(1):100-6.
1989: Grant A Mitchell; L C Brody; I Sipila; J E Looney; C Wong; J F Engelhardt; A S Patel; Gary Steel; Cassandra Obie; M Kaiser-Kupfer
At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(1):197-201.
1988: Grant A Mitchell; J E Looney; L C Brody; Gary Steel; M Suchanek; J F Engelhardt; H F Willard; David Valle
Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene.
The Journal of biological chemistry 1988;263(28):14288-95.
1988: Grant A Mitchell; L C Brody; J Looney; Gary Steel; M Suchanek; C Dowling; V Der Kaloustian; M Kaiser-Kupfer; David Valle
An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.
The Journal of clinical investigation 1988;81(2):630-3.