Publications by authors named "Simon J R Heales"

57Publications

Inhibition of Mitochondrial Complex I Impairs Release of α-Galactosidase by Jurkat Cells.

Int J Mol Sci 2019 Sep 5;20(18). Epub 2019 Sep 5.

Enzyme Unit Great Ormond Street Hospital, London WC1N 3JH, UK.

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September 2019

Mechanisms of action for the medium-chain triglyceride ketogenic diet in neurological and metabolic disorders.

Lancet Neurol 2018 01 16;17(1):84-93. Epub 2017 Dec 16.

Centre for Biomedical Sciences, School of Biological Sciences, Royal Holloway University of London, Egham, UK. Electronic address:

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January 2018

An examination of biochemical parameters and their association with response to ketogenic dietary therapies.

Epilepsia 2017 05 3;58(5):893-900. Epub 2017 Apr 3.

Department of Clinical and Experimental Epilepsy, NIHR University College London Hospitals Biomedical Research Centre, UCL Institute of Neurology, London, United Kingdom.

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May 2017

Inhibition of neuronal mitochondrial complex I or lysosomal glucocerebrosidase is associated with increased dopamine and serotonin turnover.

Neurochem Int 2017 Oct 24;109:94-100. Epub 2017 Feb 24.

ICH Centre for Translational Omics, Genetic and Genomic Medicine Development Bio & Cancer Programme, UCL GOS Institute of Child Health and Chemical Pathology, Great Ormond Street Hospital, London, WC1N 3JH, UK. Electronic address:

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October 2017

Drug-Induced Mitochondrial Toxicity.

Drug Saf 2016 07;39(7):661-74

Neurometabolic Unit. Box 105, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.

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July 2016

Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.

J Inherit Metab Dis 2016 Jan;39(1):151

NHS Barth Syndrome Service, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Trust, Bristol, BS2 8BJ, UK.

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January 2016

Biochemical diagnosis of coenzyme q10 deficiency.

Mol Syndromol 2014 Jul;5(3-4):147-55

Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.

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July 2014

Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.

J Inherit Metab Dis 2015 Mar 12;38(2):279-86. Epub 2014 Aug 12.

Department of Clinical Biochemistry, University Hospitals Bristol NHS Trust, Bristol, BS2 8HW, UK,

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March 2015

The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells.

J Neurochem 2014 May 25;129(3):426-33. Epub 2014 Jan 25.

Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK; Chemical Pathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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May 2014

Levels of 5-methyltetrahydrofolate and ascorbic acid in cerebrospinal fluid are correlated: implications for the accelerated degradation of folate by reactive oxygen species.

Neurochem Int 2013 Dec 15;63(8):750-5. Epub 2013 Oct 15.

Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK; Chemical Pathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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December 2013

Dopamine but not l-dopa stimulates neural glutathione metabolism. Potential implications for Parkinson's and other dopamine deficiency states.

Neurochem Int 2013 Apr 19;62(5):684-94. Epub 2012 Dec 19.

Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square House, Queen Square, London WC1N 3BG, UK.

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April 2013

Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis.

J Inherit Metab Dis 2013 Sep 30;36(5):741-6. Epub 2012 Oct 30.

Department of Clinical Biochemistry, Bristol Royal Infirmary, University Hospitals Bristol NHS Foundation Trust, Bristol BS2 8HW, UK.

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September 2013

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.

Ann Neurol 2012 Sep;72(3):455-63

Department of Clinical Neurosciences, University College London Institute of Neurology.

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September 2012

An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.

Mov Disord 2011 Apr 1;26(5):905-9. Epub 2011 Feb 1.

Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom.

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April 2011

Depletion of glutathione does not affect electron transport chain complex activity in brain mitochondria: Implications for Parkinson disease and postmortem studies.

Free Radic Biol Med 2011 Apr 8;50(7):899-902. Epub 2010 Dec 8.

Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London WC1N 1EH, UK.

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April 2011

Hyperprolactinaemia and mental illness.

Ann Clin Biochem 2010 Nov 6;47(Pt 6):576. Epub 2010 Oct 6.

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November 2010

Persistent mitochondrial damage by nitric oxide and its derivatives: neuropathological implications.

Front Neuroenergetics 2010 3;2. Epub 2010 Feb 3.

Department of Biochemistry and Molecular Biology, Institute of Neurosciences of Castilla- Leon, University of Salamanca Salamanca, Spain.

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July 2011

Decreased ubiquinone availability and impaired mitochondrial cytochrome oxidase activity associated with statin treatment.

Toxicol Mech Methods 2009 Jan;19(1):44-50

Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 1BG, UK.

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January 2009

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

J Clin Invest 2009 Jun 26;119(6):1595-603. Epub 2009 May 26.

Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham, United Kingdom.

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June 2009

A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency.

Mol Genet Metab 2009 May 27;97(1):6-14. Epub 2009 Jan 27.

Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square House, Queen Square, London WC1N 3BG, UK.

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May 2009

Inactivation of brain mitochondrial Lon protease by peroxynitrite precedes electron transport chain dysfunction.

Neurochem Int 2008 Sep 12;53(3-4):95-101. Epub 2008 Jun 12.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.

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September 2008

Oxidative stress and mitochondrial dysfunction in neurodegeneration; cardiolipin a critical target?

Biochim Biophys Acta 2008 Jul-Aug;1777(7-8):794-9. Epub 2008 Mar 29.

Neurometabolic Unit, National Hospital, UCLH Foundation Trust, UCL, Queen Square, London, WC1N 3BG, UK.

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August 2008

Astrocytes protect against copper-catalysed loss of extracellular glutathione.

Neurochem Res 2008 Jul 12;33(7):1410-8. Epub 2008 Mar 12.

Division of Neurochemistry, Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, UK.

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July 2008

Tetrahydrobiopterin availability in Parkinson's and Alzheimer's disease; potential pathogenic mechanisms.

Neurochem Res 2007 Apr-May;32(4-5):751-6. Epub 2006 Dec 27.

Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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May 2007

Some observations upon biochemical causes of ataxia and a new disease entity ubiquinone, CoQ10 deficiency.

Neurochem Res 2007 Apr-May;32(4-5):837-43. Epub 2006 Dec 21.

Neurometabolic Unit Box 105, National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG, UK.

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May 2007

Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells.

Pediatr Nephrol 2006 Apr 1;21(4):503-9. Epub 2006 Mar 1.

Nephro-urology Unit, Institute of Child Health, University College London Medical School, London, UK.

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April 2006

Induction of mitochondrial oxidative stress in astrocytes by nitric oxide precedes disruption of energy metabolism.

J Neurochem 2005 Oct 16;95(2):388-95. Epub 2005 Aug 16.

Miriam Marks Division of Neurochemistry, Institute of Neurology, Department of Biology, University College London, London, UK.

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October 2005

The effect of HMG-CoA reductase inhibitors on coenzyme Q10: possible biochemical/clinical implications.

Drug Saf 2005 ;28(8):659-76

Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.

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October 2005

Nitric oxide and neurological disorders.

Mol Aspects Med 2005 Feb-Apr;26(1-2):67-96. Epub 2005 Jan 24.

Division of Neurochemistry and Neurometabolic Unit, Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom.

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June 2005

Neurodegeneration or neuroprotection: the pivotal role of astrocytes.

Neurochem Res 2004 Mar;29(3):513-9

Division of Neurochemistry, Institute of Neurology, University College London, Queen Square, London, United Kingdom.

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March 2004

Mitochondrial disease: a historical, biochemical, and London perspective.

Neurochem Res 2004 Mar;29(3):483-91

Neurometabolic Unit, Box 105, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG.

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March 2004

Nitric oxide-induced mitochondrial dysfunction: implications for neurodegeneration.

Free Radic Biol Med 2003 Feb;34(3):287-303

Department of Molecular Pathogenesis, Division of Neurochemistry, Institute of Neurology, University College London, London, England.

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February 2003

Oxidative phosphorylation: structure, function, and intermediary metabolism.

Int Rev Neurobiol 2002 ;53:25-56

Department of Neurochemistry, Clinical Biochemistry (Neurometabolic Unit), Institute of Neurology and National Hospital, London, WC1N 3BG, United Kingdom.

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March 2003

Evaluation of the role of P-glycoprotein in inflammation induced blood-brain barrier damage.

Neuroreport 2002 Dec;13(18):2593-7

Department of Neurochemistry, Institute of Neurology, Univeristy College London, London WC1N 3BG, UK.

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December 2002

Activated T cells mediate direct blood-brain barrier endothelial cell death and dysfunction.

Neuroreport 2002 Dec;13(18):2587-91

Department of Neurochemistry, Institute of Neurology, University College of London, London WC1N 3BG, UK.

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December 2002

Further case of paroxysmal exercise-induced dystonia and some insights into pathogenesis.

Mov Disord 2002 Nov;17(6):1386-7

National Hospital for Neurology and Neurosurgery, Institute of Neurology, Queen Square, London, United Kingdom.

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November 2002

Intracellular distribution of the fluorescent dye nonyl acridine orange responds to the mitochondrial membrane potential: implications for assays of cardiolipin and mitochondrial mass.

J Neurochem 2002 Jul;82(2):224-33

Department of Molecular Pathogenesis, Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK.

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July 2002

Determination of glutamate-cysteine ligase (gamma-glutamylcysteine synthetase) activity by high-performance liquid chromatography and electrochemical detection.

Anal Biochem 2002 May;304(1):26-32

Department of Molecular Pathogenesis, Division of Neurochemistry, Institute of Neurology, UCL, Queen Square, London, WC1N 3BG, United Kingdom.

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May 2002

Mitochondrial dysfunction associated with neuronal death following status epilepticus in rat.

Epilepsy Res 2002 Feb;48(3):157-68

Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, WC1N 3BG, London, UK.

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February 2002

Impairment of brain mitochondrial function by reactive nitrogen species: the role of glutathione in dictating susceptibility.

Neurochem Int 2002 May;40(6):469-74

Department of Neurochemistry, Institute of Neurology and National Hospital, Queen Square, London WC1N 3BG, UK.

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May 2002