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Brian Robinson

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Komudi Siriwardena; Cameron Ackerley; Susan Blaser; Paul F Kantor; Valeriy Levandovskiy; Nevena Mackay; Julian Raiman; Brian H Robinson; Andreas Schulze; Jessie M Cameron
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.
Marko Skrtić; Paul Spagnuolo; Shrivani Sriskanthadevan; Jean C Y Wang; Xiaoming Wang; Zezhou Wang; Jeffery Wrana; Justyna Bartoszko; Jessie H Cameron; Alessandro Datti; John E Dick; Connie J Eaves; Yanina Eberhard; Marinella Gebbia; Guri Giaever; Marcela Gronda; Keith Humphries; Rose Hurren; Bozhena Jhas; Yulia Jitkova; Troy Ketela; Courteney K Lai; Neil Maclean; Mark D Minden; Jason Moffat; Corey Nislow; Brian H Robinson; Angela C Rutledge; Aaron D Schimmer
Inhibition of mitochondrial translation as a therapeutic strategy for human acute myeloid leukemia.
Jessie M Cameron; Alexandre Janer; Valeriy Levandovskiy; Nevena Mackay; Isla Ogilvie; Tracey A Rouault; Eric A Shoubridge; Wing-Hang Tong; Brian H Robinson
Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.

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2013: Komudi Siriwardena; Cameron Ackerley; Susan Blaser; Paul F Kantor; Valeriy Levandovskiy; Nevena Mackay; Julian Raiman; Brian H Robinson; Andreas Schulze; Jessie M Cameron
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.
Molecular genetics and metabolism 2013;108(1):40-50.
2011: Marko Skrtić; Paul Spagnuolo; Shrivani Sriskanthadevan; Jean C Y Wang; Xiaoming Wang; Zezhou Wang; Jeffery Wrana; Justyna Bartoszko; Jessie H Cameron; Alessandro Datti; John E Dick; Connie J Eaves; Yanina Eberhard; Marinella Gebbia; Guri Giaever; Marcela Gronda; Keith Humphries; Rose Hurren; Bozhena Jhas; Yulia Jitkova; Troy Ketela; Courteney K Lai; Neil Maclean; Mark D Minden; Jason Moffat; Corey Nislow; Brian H Robinson; Angela C Rutledge; Aaron D Schimmer
Inhibition of mitochondrial translation as a therapeutic strategy for human acute myeloid leukemia.
Cancer cell 2011;20(5):674-88.
2011: Jessie M Cameron; Alexandre Janer; Valeriy Levandovskiy; Nevena Mackay; Isla Ogilvie; Tracey A Rouault; Eric A Shoubridge; Wing-Hang Tong; Brian H Robinson
Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.
American journal of human genetics 2011;89(4):486-95.
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.
2011: Mary Maj; Niroshan Sriskandarajah; Vinci Hung; Ikennah Browne; Bhavank Shah; Anita Weadge; Nicola L Jamieson; mike tropak; Jessie M Cameron; Jane B Addis; Brian H Robinson
Identification of drug candidates which increase cytochrome c oxidase activity in deficient patient fibroblasts.
Mitochondrion 2011;11(2):264-72.
2011: Jessie M Cameron; Valeriy Levandovskiy; Neviana Mackay; Cameron Ackerley; David Chitayat; Julian Raiman; William Halliday; Andreas Schulze; Brian H Robinson
Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.
Mitochondrion 2011;11(1):191-9.
2010: Mary Maj; Ilona Tkachyova; Pratik Patel; Jane B Addis; Neviana Mackay; Valeriy Levandovskiy; Jisoo Lee; Anthony E Lang; Jessie M Cameron; Brian H Robinson
Oxidative stress alters the regulatory control of p66Shc and Akt in PINK1 deficient cells.
Biochemical and biophysical research communications 2010;399(3):331-5.
2009: Jessie M Cameron; Valeriy Levandovskiy; Neviana Mackay; Rucha Utgikar; Cameron Ackerley; David Chiasson; William Halliday; Julian Raiman; Brian H Robinson
Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts.
Molecular genetics and metabolism 2009;98(4):378-82.
2009: Roya Riazi; Maya Khairallah; Jessie M Cameron; Paul B Pencharz; Christine Des Rosiers; Brian H Robinson
Probing pyruvate metabolism in normal and mutant fibroblast cell lines using 13C-labeled mass isotopomer analysis and mass spectrometry.
Molecular genetics and metabolism 2009;98(4):349-55.
2009: Klaus G E Werner; Chantal F Morel; Adam Kirton; Susanne M Benseler; John M Shoffner; Jane B L Addis; Brian H Robinson; Delilah M Burrowes; Susan I Blaser; Leon G Epstein; Annette Feigenbaum
Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.
Pediatric neurology 2009;41(1):27-33.
2009: Jessie M Cameron; Mary Maj; Valeriy Levandovskiy; C P Barnett; Susan Blaser; Neviana Mackay; Julian Raiman; Annette Feigenbaum; A Schulze; Brian H Robinson
Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.
Human genetics 2009;125(3):319-26.
2008: Fenghao Xu; Cameron Ackerley; Mary Maj; Jane B L Addis; Valeriy Levandovskiy; Jisoo Lee; Neviana Mackay; Jessie M Cameron; Brian H Robinson
Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondria.
The Biochemical journal 2008;416(1):15-26.
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: 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: 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: Avril E Castagna; Jane Addis; Roderick R McInnes; Joe T R Clarke; Peter Ashby; Susan Blaser; Brian H Robinson
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.
American journal of medical genetics. Part A 2007;143A(8):808-16.
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.
2007: Nevi Mackay; Brian H Robinson
Measurement of the ratio of lactate to pyruvate in skin fibroblast cultures.
Methods in cell biology 2007;80():173-8.
2007: Jessie M Cameron; Mary Maj; Valeriy Levandovskiy; Neviana Mackay; G Diane Shelton; Brian H Robinson
Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency.
Molecular genetics and metabolism 2007;90(1):15-23.
2006: Annette Feigenbaum; Ren-Kui Bai; Emily S Doherty; Haeyoung Kwon; Duanjun Tan; Avril Sloane; Ernest Cutz; Brian H Robinson; Lee-Jun C Wong
Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness.
American journal of medical genetics. Part A 2006;140(20):2216-22.
2006: Brian H Robinson
Lactic acidemia and mitochondrial disease.
Molecular genetics and metabolism 2006;89(1-2):3-13.
2006: Jessie M Cameron; Valeriy Levandovskiy; Neviana Mackay; Julian Raiman; Deborah L Renaud; Joe T R Clarke; Annette Feigenbaum; Orly Elpeleg; Brian H Robinson
Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.
American journal of medical genetics. Part A 2006;140(14):1542-52.
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.
2006: Mary Maj; Jessie M Cameron; Brian H Robinson
Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition?
Molecular and cellular endocrinology 2006;249(1-2):1-9.
2005: Mary Maj; Neviana Mackay; Valeriy Levandovskiy; Jane Addis; E Regula Baumgartner; Matthias R Baumgartner; Brian H Robinson; Jessie M Cameron
Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.
The Journal of clinical endocrinology and metabolism 2005;90(7):4101-7.
2005: Jessie M Cameron; T Hurd; Brian H Robinson
Computational identification of human mitochondrial proteins based on homology to yeast mitochondrially targeted proteins.
Bioinformatics (Oxford, England) 2005;21(9):1825-30.
2005: Mikhail V Ponamarev; Yi-Min She; Li Zhang; Brian H Robinson
Proteomics of bovine mitochondrial RNA-binding proteins: HES1/KNP-I is a new mitochondrial resident protein.
Journal of proteome research 2005;4(1):43-52.
2005: Marjie Hard; Mohamed Abdolell; Brian H Robinson; Gideon Koren
Gene-expression analysis after alcohol exposure in the developing mouse.
The Journal of laboratory and clinical medicine 2005;145(1):47-54.
2004: Jessie M Cameron; Valeriy Levandovskiy; Neviana Mackay; Ingrid Tein; Brian H Robinson
Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.
American journal of medical genetics. Part A 2004;131(1):59-66.
2004: Jessie M Cameron; Valeriy Levandovskiy; Neviana Mackay; Brian H Robinson
Respiratory chain analysis of skin fibroblasts in mitochondrial disease.
Mitochondrion 2004;4(5-6):387-94.
2004: Fenghao Xu; Charles Morin; Grant Mitchell; Cameron Ackerley; Brian H Robinson
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.
The Biochemical journal 2004;382(Pt 1):331-6.
2004: Nhu-An Pham; Tim Richardson; Jessie Cameron; Bruno Chue; Brian H Robinson
Altered mitochondrial structure and motion dynamics in living cells with energy metabolism defects revealed by real time microscope imaging.
Microscopy and microanalysis : the official journal of Microscopy Society of America, Microbeam Analysis Society, Microscopical Society of Canada 2004;10(2):247-60.
2004: Mary Maj; Sandeep Raha; Tomoko Myint; Brian H Robinson
Regulation of NADH/CoQ oxidoreductase: do phosphorylation events affect activity?
The protein journal 2004;23(1):25-32.
2004: David S Sinasac; Mitsuaki Moriyama; Md Abdul Jalil; Laila Begum; Meng Xian Li; Mikio Iijima; Masahisa Horiuchi; Brian H Robinson; Keiko Kobayashi; Takeyori Saheki; Lap-Chee Tsui
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.
Molecular and cellular biology 2004;24(2):527-36.
2003: Robert P Jankov; Leslie Johnstone; Xiaoping Luo; Brian H Robinson; A Keith Tanswell
Macrophages as a major source of oxygen radicals in the hyperoxic newborn rat lung.
Free radical biology & medicine 2003;35(2):200-9.
2003: Mary Anna Carbone; Brian H Robinson
Expression and characterization of a human pyruvate carboxylase variant by retroviral gene transfer.
The Biochemical journal 2003;370(Pt 1):275-82.
2003: Jean-Michel Liet; Véronique Pelletier; Brian H Robinson; Maurice D Laryea; Udo Wendel; Sylvain Morneau; Charles Morin; Grant Mitchell; Jacques Lacroix
The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: a double-blind randomized crossover clinical trial.
The Journal of pediatrics 2003;142(1):62-6.
2002: Mary Anna Carbone; Derek A Applegarth; Brian H Robinson
Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.
Human mutation 2002;20(1):48-56.
2002: Sandeep Raha; A Tomoko Myint; Leslie Johnstone; Brian H Robinson
Control of oxygen free radical formation from mitochondrial complex I: roles for protein kinase A and pyruvate dehydrogenase kinase.
Free radical biology & medicine 2002;32(5):421-30.
2001: A Seyda; K Chun; S Packman; Brian H Robinson
A case of PDH-E1 alpha mosaicism in a male patient with severe metabolic lactic acidosis.
Journal of inherited metabolic disease 2001;24(5):551-9.
2001: S Y Lee; C Hunte; S Malaney; Brian H Robinson
The N-terminus of the Qcr7 protein of the cytochrome bc(1) complex in S. cerevisiae may be involved in facilitating stability of the subcomplex with the Qcr8 protein and cytochrome b.
Archives of biochemistry and biophysics 2001;393(2):215-21.
2001: S Y Lee; Sandeep Raha; B Nagar; Brian H Robinson
The functional role of conserved acidic residues of the Qcr7 protein of the cytochrome bc(1) complex in Saccharomyces cerevisiae.
Archives of biochemistry and biophysics 2001;393(2):207-14.
2001: Brian H Robinson
Prenatal diagnosis of disorders of energy metabolism.
Seminars in neurology 2001;21(3):269-73.
2001: Marjie Hard; Sandeep Raha; M Spino; Brian H Robinson; Gideon Koren
Impairment of pyruvate dehydrogenase activity by acetaldehyde.
Alcohol (Fayetteville, N.Y.) 2001;25(1):1-8.
2001: N Lee; Mark J Daly; Terrye Delmonte; Eric S Lander; Fenghao Xu; Thomas J Hudson; G A Mitchell; C C Morin; Brian H Robinson; John D Rioux
A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16.
American journal of human genetics 2001;68(2):397-409.
2001: A Seyda; Robert F Newbold; Thomas J Hudson; A Verner; Neviana Mackay; S Winter; Annette Feigenbaum; S Malaney; Diego Gonzalez-Halphen; A P Cuthbert; Brian H Robinson
A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.
American journal of human genetics 2001;68(2):386-96.
2001: Sandeep Raha; Brian H Robinson
Mitochondria, oxygen free radicals, and apoptosis.
American journal of medical genetics 2001;106(1):62-70.
2000: Nhu-An Pham; Brian H Robinson; David W Hedley
Simultaneous detection of mitochondrial respiratory chain activity and reactive oxygen in digitonin-permeabilized cells using flow cytometry.
Cytometry 2000;41(4):245-51.
2000: Brian H Robinson
Human cytochrome oxidase deficiency.
Pediatric research 2000;48(5):581-5.
2000: A Seyda; Brian H Robinson
Expression and functional characterization of human protein X variants in SV40-immortalized protein X-deficient and E2-deficient human skin fibroblasts.
Archives of biochemistry and biophysics 2000;382(2):219-23.
2000: Sandeep Raha; Brian H Robinson
Mitochondria, oxygen free radicals, disease and ageing.
Trends in biochemical sciences 2000;25(10):502-8.
2000: Sandeep Raha; GE McEachern; A Tomoko Myint; Brian H Robinson
Superoxides from mitochondrial complex III: the role of manganese superoxide dismutase.
Free radical biology & medicine 2000;29(2):170-80.
2000: A Seyda; Brian H Robinson
Functional expression of four PDH-E(1)alpha recombinant histidine mutants in a human fibroblast cell line with zero endogenous PDH complex activity.
Biochemical and biophysical research communications 2000;270(3):1068-73.
2000: A Seyda; GE McEachern; R Haas; Brian H Robinson
Sequential deletion of C-terminal amino acids of the E(1)alpha component of the pyruvate dehydrogenase (PDH) complex leads to reduced steady-state levels of functional E(1)alpha(2)beta(2) tetramers: implications for patients with PDH deficiency.
Human molecular genetics 2000;9(7):1041-8.
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: Sandeep Raha; Frank Merante; Eric A Shoubridge; A Tomoko Myint; Ingrid Tein; Lee Benson; T Johns; Brian H Robinson
Repopulation of rho0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA(Gly) results in respiratory chain dysfunction.
Human mutation 1999;13(3):245-54.
1998: SH Cray; Brian H Robinson; Peter N Cox
Lactic acidemia and bradyarrhythmia in a child sedated with propofol.
Critical care medicine 1998;26(12):2087-92.
1998: Frank Merante; Donald A G Mickle; Richard D Weisel; Ren-Ke Li; Laura C Tumiati; Vivek Rao; William G Williams; Brian H Robinson
Myocardial aerobic metabolism is impaired in a cell culture model of cyanotic heart disease.
The American journal of physiology 1998;275(5 Pt 2):H1673-81.
1998: Vivek Rao; Frank Merante; Richard D Weisel; T Shirai; John S Ikonomidis; Gideon Cohen; Laura C Tumiati; Noritsugu Shiono; Ren-Ke Li; Donald A G Mickle; Brian H Robinson
Insulin stimulates pyruvate dehydrogenase and protects human ventricular cardiomyocytes from simulated ischemia.
The Journal of thoracic and cardiovascular surgery 1998;116(3):485-94.
1998: Brian H Robinson
The role of manganese superoxide dismutase in health and disease.
Journal of inherited metabolic disease 1998;21(5):598-603.
1998: M A Carbone; Neviana Mackay; M Ling; David E C Cole; C Douglas; B Rigat; Annette Feigenbaum; Joe T R Clarke; James C Haworth; Cheryl R Greenberg; LORNE SEARGEANT; Brian H Robinson
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.
American journal of human genetics 1998;62(6):1312-9.
1998: Brian H Robinson
Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect.
Biochimica et biophysica acta 1998;1364(2):271-86.
1998: M Ling; GE McEachern; A Seyda; Neviana Mackay; Stephen W Scherer; S Bratinova; BG Beatty; M L Giovannucci-Uzielli; Brian H Robinson
Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency.
Human molecular genetics 1998;7(3):501-5.
1998: N Lee; C Morin; G Mitchell; Brian H Robinson
Saguenay Lac Saint Jean cytochrome oxidase deficiency: sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc.
Biochimica et biophysica acta 1998;1406(1):1-4.
1998: Kathy Chun; Brian H Robinson
Expression of normal and mutant pyruvate dehydrogenase complex E1 alpha cDNAs in cultured human lymphoblasts.
Archives of biochemistry and biophysics 1998;349(2):246-50.
1998: Brian H Robinson; Xiaoping Luo; S Pitkänen; S Bratinova; Jaqueline Bourgeois; Denis C Lehotay; Sandeep Raha
Diagnosis of mitochondrial energy metabolism defects in tissue culture. Induction of MnSOD and bcl-2 in mitochondria from patients with complex I (NADH-CoQ reductase) deficiency.
BioFactors (Oxford, England) 1998;7(3):229-30.
1997: M M Ling; Brian H Robinson
Approaches to DNA mutagenesis: an overview.
Analytical biochemistry 1997;254(2):157-78.
1997: M Ling; Frank Merante; H S Chen; C Duff; AM Duncan; Brian H Robinson
The human mitochondrial elongation factor tu (EF-Tu) gene: cDNA sequence, genomic localization, genomic structure, and identification of a pseudogene.
Gene 1997;197(1-2):325-36.
1997: S Malaney; B L Trumpower; Charles M Deber; Brian H Robinson
The N terminus of the Qcr7 protein of the cytochrome bc1 complex is not essential for import into mitochondria in Saccharomyces cerevisiae but is essential for assembly of the complex.
The Journal of biological chemistry 1997;272(28):17495-501.
1997: Xiaoping Luo; S Pitkänen; S Kassovska-Bratinova; Brian H Robinson; Denis C Lehotay
Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibroblasts from patients with complex I deficiency.
The Journal of clinical investigation 1997;99(12):2877-82.
1997: Frank Merante; M Ling; AM Duncan; C Duff; Brian H Robinson
Cloning, characterization, and chromosomal localization of human liver form cytochrome c oxidase subunit VIa related genes.
Genome / National Research Council Canada = Génome / Conseil national de recherches Canada 1997;40(3):325-31.
1997: Frank Merante; AM Duncan; G Mitchell; C Duff; Johanna M Rommens; Brian H Robinson
Chromosomal localization of the human liver form cytochrome c oxidase subunit VIIa gene.
Genome / National Research Council Canada = Génome / Conseil national de recherches Canada 1997;40(3):318-24.
1996: S Pitkänen; Sandeep Raha; Brian H Robinson
Diagnosis of complex I deficiency in patients with lactic acidemia using skin fibroblast cultures.
Biochemical and molecular medicine 1996;59(2):134-7.
1996: S J Hyslop; AM Duncan; S Pitkänen; Brian H Robinson
Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13.
Genomics 1996;37(3):375-80.
1996: M Ling; Brian H Robinson
Rapid construction of three-fragment recombinant DNAs by polymerase chain reaction: application for gene-targeting in Saccharomyces cerevisiae.
Analytical biochemistry 1996;242(1):155-8.
1996: S Pitkanen; Brian H Robinson
Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase.
The Journal of clinical investigation 1996;98(2):345-51.
1996: S Pitkanen; F Merante; D R McLeod; D Applegarth; T Tong; Brian H Robinson
Familial cardiomyopathy with cataracts and lactic acidosis: a defect in complex I (NADH-dehydrogenase) of the mitochondria respiratory chain.
Pediatric research 1996;39(3):513-21.
1996: Brian H Robinson
Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects.
Methods in enzymology 1996;264():454-64.
1996: S Pitkänen; Annette Feigenbaum; R Laframboise; Brian H Robinson
NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings.
Journal of inherited metabolic disease 1996;19(5):675-86.
1996: Frank Merante; T Myint; Ingrid Tein; L Benson; Brian H Robinson
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy.
Human mutation 1996;8(3):216-22.
1996: Brian H Robinson; Neviana Mackay; K Chun; M Ling
Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.
Journal of inherited metabolic disease 1996;19(4):452-62.
1995: M Ling; Frank Merante; Brian H Robinson
A rapid and reliable DNA preparation method for screening a large number of yeast clones by polymerase chain reaction.
Nucleic acids research 1995;23(23):4924-5.
1995: M Ling; Brian H Robinson
A one-step polymerase chain reaction site-directed mutagenesis method for large gene-cassettes with high efficiency, yield, and fidelity.
Analytical biochemistry 1995;230(1):167-72.
1995: K Chun; Neviana Mackay; R Petrova-Benedict; A Federico; A Fois; David E C Cole; E Robertson; Brian H Robinson
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
American journal of human genetics 1995;56(3):558-69.
1994: Frank Merante; Ingrid Tein; L Benson; Brian H Robinson
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene.
American journal of human genetics 1994;55(3):437-46.
1994: Neviana Mackay; B Rigat; C Douglas; H S Chen; Brian H Robinson
cDNA cloning of human kidney pyruvate carboxylase.
Biochemical and biophysical research communications 1994;202(2):1009-14.
1994: Brian H Robinson
MtDNA and nuclear mutations affecting oxidative phosphorylation: correlating severity of clinical defect with extent of bioenergetic compromise.
Journal of bioenergetics and biomembranes 1994;26(3):311-6.
1994: J Christodoulou; R R McInnes; Venita Jay; G Wilson; Lawrence E Becker; Denis C Lehotay; B A Platt; P J Bridge; Brian H Robinson; Joe T R Clarke
Barth syndrome: clinical observations and genetic linkage studies.
American journal of medical genetics 1994;50(3):255-64.
1994: P J Lea; R J Temkin; K B Freeman; G A Mitchell; Brian H Robinson
Variations in mitochondrial ultrastructure and dynamics observed by high resolution scanning electron microscopy (HRSEM).
Microscopy research and technique 1994;27(4):269-77.
1994: Y Tatuch; R A Pagon; B Vlcek; R Roberts; M Korson; Brian H Robinson
The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families.
European journal of human genetics : EJHG 1994;2(1):35-43.
1993: S T Ali; AM Duncan; K Schappert; Hong-Qiang Heng; Lap-Chee Tsui; W Chow; Brian H Robinson
Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13.
Genomics 1993;18(2):435-9.
1993: Brian H Robinson
Lacticacidemia.
Biochimica et biophysica acta 1993;1182(3):231-44.
1993: Brian H Robinson; K Chun
The relationships between transketolase, yeast pyruvate decarboxylase and pyruvate dehydrogenase of the pyruvate dehydrogenase complex.
FEBS letters 1993;328(1-2):99-102.
1993: A S Feigenbaum; Brian H Robinson
The structure of the human dihydrolipoamide dehydrogenase gene (DLD) and its upstream elements.
Genomics 1993;17(2):376-81.
1993: Frank Merante; R Petrova-Benedict; Neviana Mackay; G Mitchell; M Lambert; C Morin; M De Braekeleer; R Laframboise; R Gagné; Brian H Robinson
A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.
American journal of human genetics 1993;53(2):481-7.
1993: B Koo; Lawrence E Becker; S Chuang; Frank Merante; Brian H Robinson; D MacGregor; Ingrid Tein; Vincent B Ho; D A McGreal; J R Wherrett
Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observations.
Annals of neurology 1993;34(1):25-32.
1993: J Christodoulou; R Petrova-Benedict; Brian H Robinson; Venita Jay; Joe T R Clarke
An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency.
European journal of pediatrics 1993;152(5):428-32.
1993: Y Tatuch; Brian H Robinson
The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria.
Biochemical and biophysical research communications 1993;192(1):124-8.
1993: K Chun; Neviana Mackay; R Petrova-Benedict; Brian H Robinson
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.
Human molecular genetics 1993;2(4):449-54.
1992: Brian H Robinson; R Petrova-Benedict; J Raymond Buncic; Douglas C Wallace
Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts.
Biochemical medicine and metabolic biology 1992;48(2):122-6.
1992: Brian H Robinson; W Chow; R Petrova-Benedict; Joe T R Clarke; M I Van Allen; L E Becker; J E Boulton; I Ragan
Fatal combined defects in mitochondrial multienzyme complexes in two siblings.
European journal of pediatrics 1992;151(5):347-52.
1992: Y Tatuch; J Christodoulou; Annette Feigenbaum; Joe T R Clarke; J Wherret; C Smith; N Rudd; R Petrova-Benedict; Brian H Robinson
Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.
American journal of human genetics 1992;50(4):852-8.
1992: M J Taylor; Brian H Robinson
Evoked potentials in children with oxidative metabolic defects leading to Leigh syndrome.
Pediatric neurology 1992;8(1):25-9.
1992: R Petrova-Benedict; J Raymond Buncic; D C Wallace; Brian H Robinson
Selective killing of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts.
Journal of inherited metabolic disease 1992;15(6):943-4.
1991: W Chow; I Ragan; Brian H Robinson
Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase.
European journal of biochemistry / FEBS 1991;201(3):547-50.
1991: K Chun; Neviana Mackay; R Petrova-Benedict; Brian H Robinson
Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.
American journal of human genetics 1991;49(2):414-20.
1991: M G Harbord; PA Hwang; Brian H Robinson; Lawrence E Becker; A Hunjan; E G Murphy
Infant-onset progressive myoclonus epilepsy.
Journal of child neurology 1991;6(2):134-42.
1991: Stephen W Scherer; Gail Otulakowski; Brian H Robinson; Lap-Chee Tsui
Localization of the human dihydrolipoamide dehydrogenase gene (DLD) to 7q31----q32.
Cytogenetics and cell genetics 1991;56(3-4):176-7.
1990: K Chun; Neviana Mackay; H F Willard; Brian H Robinson
Isolation, characterization and chromosomal localization of cDNA clones for the E1 beta subunit of the pyruvate dehydrogenase complex.
European journal of biochemistry / FEBS 1990;194(2):587-92.
1990: Brian H Robinson; D M Glerum; W Chow; R Petrova-Benedict; R Lightowlers; R Capaldi
The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia.
Pediatric research 1990;28(5):549-55.
1990: Brian H Robinson; Neviana Mackay; R Petrova-Benedict; I Ozalp; T Coskun; Peter W Stacpoole
Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.
The Journal of clinical investigation 1990;85(6):1821-4.
1989: Brian H Robinson
Lacticacidemia. Biochemical, clinical, and genetic considerations.
Advances in human genetics 1989;18():151-79, 371-2.
1989: Brian H Robinson; K Chun; Neviana Mackay; Gail Otulakowski; R Petrova-Benedict; Huntington F Willard
Isolated and combined deficiencies of the alpha-keto acid dehydrogenase complexes.
Annals of the New York Academy of Sciences 1989;573():337-46.
1988: D M Glerum; W Yanamura; R A Capaldi; Brian H Robinson
Characterization of cytochrome-c oxidase mutants in human fibroblasts.
FEBS letters 1988;236(1):100-4.
1988: G Otulakowski; Brian H Robinson; H F Willard
Gene for lipoamide dehydrogenase maps to human chromosome 7.
Somatic cell and molecular genetics 1988;14(4):411-4.
1988: Brian H Robinson
Cell culture studies on patients with mitochondrial diseases: molecular defects in pyruvate dehydrogenase.
Journal of bioenergetics and biomembranes 1988;20(3):313-23.
1988: L De Meirleir; Neviana Mackay; A M Lam Hon Wah; Brian H Robinson
Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex.
The Journal of biological chemistry 1988;263(4):1991-5.
1987: Gail Otulakowski; Brian H Robinson
Isolation and sequence determination of cDNA clones for porcine and human lipoamide dehydrogenase. Homology to other disulfide oxidoreductases.
The Journal of biological chemistry 1987;262(36):17313-8.
1987: Brian H Robinson; H MacMillan; R Petrova-Benedict; W G Sherwood
Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex.
The Journal of pediatrics 1987;111(4):525-33.
1987: M Glerum; Brian H Robinson; C Spratt; J Wilson; D Patrick
Abnormal kinetic behavior of cytochrome oxidase in a case of Leigh disease.
American journal of human genetics 1987;41(4):584-93.