S. Heales

发表

Antioxidants, reactive oxygen and nitrogen species, gene induction and mitochondrial function.

S. Astley, R. Elliott, H. Griffiths, 2002, Molecular aspects of medicine.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Hagai Bergman, Dagmar Wieczorek, Zvi Israel, 2016, Nature Genetics.

Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres.

S. Anvar, D. Rubinsztein, J. Davies, 2010, Human molecular genetics.

Positive allosteric modulation of metabotropic glutamate receptor 5 down-regulates fibrinogen-activated microglia providing neuronal protection

S. Heales, J. Pocock, T. Piers, 2011, Neuroscience Letters.

The Effect of HMG-CoA Reductase Inhibitors on Coenzyme Q10

S. Heales, A. Duncan, I. Hargreaves, 2005, Drug safety.

Catalase deficiency, diabetes, and mitochondrial function

S. Heales, 2001, The Lancet.

Astrocyte‐Derived Nitric Oxide Causes Both Reversible and Irreversible Damage to the Neuronal Mitochondrial Respiratory Chain

S. Heales, J. Clark, M. Sharpe, 2000, Journal of neurochemistry.

Biochemical characterization of proliferative and differentiated SH-SY5Y cell line as a model for Parkinson's disease

S. Heales, S. Eaton, H. Alrashidi, 2021, Neurochemistry International.

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

S. Heales, S. Pope, J. Land, 2008, Biochimica et biophysica acta.

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

S. Heales, W. Purcell, R. Hurst, 2002, Neuroreport.

Pulmonary Hypertension in a GTP-Cyclohydrolase 1–Deficient Mouse

T. Jacques, P. Vallance, S. Heales, 2005, Circulation.

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

S. Heales, R. Frost, A. Bowron, 2013, Journal of Inherited Metabolic Disease.

Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non‐ketotic hyperglycinemia

N. Greene, A. Copp, S. Heales, 2020, Journal of inherited metabolic disease.

Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases.

S. Heales, S. Pope, P. Gissen, 2018, JIMD reports.

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

M. Verbeek, N. Blau, R. Artuch, 2017, Orphanet Journal of Rare Diseases.

Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice

M. Brosnan, J. Brosnan, N. Greene, 2015, Nature Communications.

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

S. Heales, I. Hargreaves, J. Land, 2013, Neurochemistry International.

Can folic acid have a role in mitochondrial disorders?

S. Rahman, A. Ormazabal, R. Artuch, 2015, Drug discovery today.

Mitochondrial dysfunction is an important cause of neurological deficits in an inflammatory model of multiple sclerosis

M. Duchen, Kenneth J. Smith, S. Heales, 2016, Scientific Reports.

The Effect of Cellular Coenzyme Q10 Deficiency on Lysosomal Acidification

K. Rahman, S. Heales, D. Sexton, 2020, Journal of clinical medicine.

Nitric oxide, energy metabolism and neurological disease.

J. Bolaños, S. Heales, P. Foppa, 1997, Biochemical Society transactions.

DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia

D. Grozeva, D. Hughes, F. Raymond, 2020, Movement disorders : official journal of the Movement Disorder Society.

PINK1 Is Necessary for Long Term Survival and Mitochondrial Function in Human Dopaminergic Neurons

S. Tabrizi, E. Miljan, J. Downward, 2008, PloS one.

Altered skeletal muscle insulin signaling and mitochondrial complex II-III linked activity in adult offspring of obese mice.

L. Poston, S. Ozanne, S. Heales, 2009, American journal of physiology. Regulatory, integrative and comparative physiology.

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

S. Heales, G. Davey, Adrian Menzes, 2011, Free radical biology & medicine.

Effects of 1‐Methyl‐4‐Phenylpyridinium on Isolated Rat Brain Mitochondria: Evidence for a Primary Involvement of Energy Depletion

S. Heales, J. Clark, S. Davies, 1994, Journal of neurochemistry.

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

S. Heales, M. Gegg, J. Clark, 2002, Analytical biochemistry.

Tetrahydrobiopterin Availability in Parkinson’s and Alzheimer’s Disease; Potential Pathogenic Mechanisms

S. Heales, J. Land, R. Foxton, 2007, Neurochemical Research.

Biochemical Diagnosis of Coenzyme Q10 Deficiency

R. Artuch, S. Heales, I. Hargreaves, 2014, Molecular Syndromology.

Neuroprotective Role of the Reaper-Related Serine Protease HtrA2/Omi Revealed by Targeted Deletion in Mice

Sebastian Brandner, Julian Downward, Kristina Klupsch, 2004, Molecular and Cellular Biology.

Toxic, Metabolic and Physical Insults to the Nervous System and Inherited Disorders of Metabolism

A. Leff, M. Edwards, R. Howard, 2016 .

L‐dopa–responsive Parkinson's syndrome in association with phenylketonuria: In vivo dopamine transporter and D2 receptor findings

A. Lees, R. Katzenschlager, A. Evans, 2004, Movement disorders : official journal of the Movement Disorder Society.

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

S. Heales, S. Eaton, D. Burke, 2017, Neurochemistry International.

Astrocytes Protect Against Copper-Catalysed Loss of Extracellular Glutathione

S. Heales, S. Pope, R. Milton, 2008, Neurochemical Research.

Astrocyte Nitric Oxide Causes Neuronal Mitochondrial Damage, but Antioxidant Release Limits Neuronal Cell Death

S. Heales, J. Clark, R. Hurst, 1999, Annals of the New York Academy of Sciences.

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

C. Manegold, W. Hwu, M. Verbeek, 2010, Neurology.

Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.

R. Surtees, T. Flatmark, P. Clayton, 1996, Human molecular genetics.

Adaptation of the Nitrate Reductase and Griess Reaction Methods for the Measurement of Serum Nitrate plus Nitrite Levels

G. Giovannoni, S. Heales, E. Thompson, 1997, Annals of clinical biochemistry.

Rapid neonatal weight gain in rats results in a renal ubiquinone (CoQ) deficiency associated with premature death

L. Poston, S. Ozanne, S. Heales, 2007, Mechanisms of Ageing and Development.

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

S. Heales, O. Hori, J. Clark, 2008, Neurochemistry International.

Protective effects of medium chain triglyceride diet in a mouse model of Dravet syndrome

S. Eaton, C. Reid, S. Petrou, 2021, Epilepsia.

Neuronal decanoic acid oxidation is markedly lower than that of octanoic acid: A mechanistic insight into the medium‐chain triglyceride ketogenic diet

S. Heales, S. Eaton, M. Orford, 2017, Epilepsia.

Age Dependent Changes in the Cerebrospinal Fluid Concentration of Nitrite and Nitrate

R. Surtees, J. Bolaños, S. Heales, 1996, Annals of clinical biochemistry.

Coenzyme Q10 quantification in muscle, fibroblasts and cerebrospinal fluid by liquid chromatography/tandem mass spectrometry using a novel deuterated internal standard.

K. Mills, S. Heales, S. Eaton, 2013, Rapid communications in mass spectrometry : RCM.

Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment

S. Rahman, S. Heales, I. Hargreaves, 2013, Journal of Inherited Metabolic Disease.

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.

Christopher M. Clouthier, Y. Crow, H. Blom, 2011, American journal of human genetics.

Ketogenic diet in the treatment of epilepsy in children under the age of 2 years: study protocol for a randomised controlled trial

N. Freemantle, I. Nazareth, P. Fallon, 2017, Trials.

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

J. Cross, S. Rahman, S. Heales, 2014, Journal of neurochemistry.

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

A. Pagnamenta, M. Bitner-Glindzicz, S. Rahman, 2006, Molecular genetics and metabolism.

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Y. Okazaki, J. Smeitink, L. P. Van den Heuvel, 2017, Brain : a journal of neurology.

Decreased Ubiquinone Availability and Impaired Mitochondrial Cytochrome Oxidase Activity Associated With Statin Treatment

S. Heales, A. Duncan, I. Hargreaves, 2009, Toxicology mechanisms and methods.

Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.

Thorvald F. Andreassen, H. Weinstein, H. Sitte, 2014, The Journal of clinical investigation.

Preservation of extracellular glutathione by an astrocyte derived factor with properties comparable to extracellular superoxide dismutase

S. Heales, M. Gegg, R. Hurst, 2002, Journal of neurochemistry.

Glutathione protects astrocytes from peroxynitrite-mediated mitochondrial damage: implications for neuronal/astrocytic trafficking and neurodegeneration.

J. Bolaños, S. Heales, J. Clark, 1996, Developmental neuroscience.

Postnatal development of the complexes of the electron transport chain in isolated rat brain mitochondria.

S. Heales, J. Clark, T. Bates, 1994, Developmental neuroscience.

Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration

P. Clayton, S. Heales, P. Mills, 2011, Journal of Inherited Metabolic Disease.

Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation

V. Plagnol, J. Saldanha, S. Rahman, 2015, Journal of Inherited Metabolic Disease.

Determination of coenzyme Q10 status in blood mononuclear cells, skeletal muscle, and plasma by HPLC with di-propoxy-coenzyme Q10 as an internal standard.

K. Mills, S. Heales, S. Eaton, 2005, Clinical chemistry.

Depletion of brain glutathione results in a decrease of glutathione reductase activity; an enzyme susceptible to oxidative damage

J. Bolaños, S. Heales, J. Land, 1996, Brain Research.

Myelin‐induced microglial neurotoxicity can be controlled by microglial metabotropic glutamate receptors

D. Baker, S. Heales, J. Pocock, 2008, Journal of neurochemistry.

Potential mechanisms for nitric oxide-mediated impairment of brain mitochondrial energy metabolism.

Á. Almeida, J. Bolaños, S. Heales, 1997, Biochemical Society transactions.

Mitochondrial dysfunction is a key pathological driver of early stage Parkinson’s

M. Palkovits, J. Attems, C. Troakes, 2022, Acta neuropathologica communications.

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

P. Jarman, K. Bhatia, S. Heales, 2002, Movement disorders : official journal of the Movement Disorder Society.

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

P. Scambler, R. Surtees, P. Clayton, 2005, Human molecular genetics.

GTP cyclohydrolase I gene transfer augments intracellular tetrahydrobiopterin in human endothelial cells: effects on nitric oxide synthase activity, protein levels and dimerisation.

N. Alp, K. Channon, S. Heales, 2002, Cardiovascular research.

Reactive Oxygen Species Mediate Endothelium-Dependent Relaxations in Tetrahydrobiopterin-Deficient Mice

E. Werner, K. Channon, T. Lüscher, 2001, Arteriosclerosis, thrombosis, and vascular biology.

The potential role of nitric oxide in multiple sclerosis

G. Giovannoni, S. Heales, E. Thompson, 1998, Multiple sclerosis.

Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method

K. Mills, P. Clayton, S. Heales, 2013, Journal of Inherited Metabolic Disease.

Pyridoxal 5′‐phosphate deficiency causes a loss of aromatic l‐amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic l‐amino acid decarboxylase and vitamin B6 deficiency states

P. Clayton, P. Clayton, J. Fitzgerald, 2010, Journal of neurochemistry.

Statins and myopathy

S. Heales, I. Hargreaves, 2002, The Lancet.

Pretreatment of Astrocytes with Interferon‐α/β Prevents Neuronal Mitochondrial Respiratory Chain Damage

S. Heales, J. Land, V. Stewart, 1998 .

Tetrahydrobiopterin Regulates Cyclic GMP‐Dependent Electrogenic Cl− Secretion in Mouse Ileum In Vitro

S. Heales, P. Milla, K. Lindley, 1997, The Journal of physiology.

Diagnostic Value of Succinate Ubiquinone Reductase Activity in the Identification of Patients with Mitochondrial DNA Depletion

S. Rahman, S. Heales, J. Leonard, 2002, Journal of Inherited Metabolic Disease.

Effect of Coenzyme Q10 supplementation on mitochondrial electron transport chain activity and mitochondrial oxidative stress in Coenzyme Q10 deficient human neuronal cells.

S. Rahman, S. Heales, A. Abramov, 2014, The international journal of biochemistry & cell biology.

Earwax: A potentially useful medium to identify inborn errors of metabolism?

S. Heales, M. Cleary, M. McSweeney, 2020, JIMD reports.

Protein aggregation and calcium dysregulation are the earliest hallmarks of synucleinopathy in human midbrain dopaminergic neurons

M. Horrocks, S. Gandhi, S. Heales, 2022, bioRxiv.

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

S. Heales, I. Hargreaves, V. Shah, 2006, Pediatric Nephrology.

Clinical, pathological and functional characterization of riboﬂavin-responsive neuropathy

A. Singleton, D. Kullmann, F. Muntoni, 2017 .

Advances in methods to analyse cardiolipin and their clinical applications

S. Heales, M. Hanna, S. Pope, 2022, Trends in analytical chemistry : TRAC.

Nitric Oxide‐Mediated Mitochondrial Damage in the Brain: Mechanisms and Implications for Neurodegenerative Diseases

J M Land, Á. Almeida, J. Bolaños, 1997, Journal of neurochemistry.

Comparison of mitochondrial respiratory chain enzyme activities in rodent astrocytes and neurones and a human astrocytoma cell line

S. Heales, J. Land, V. Stewart, 1998, Neuroscience Letters.

Inhibition of monocyte luminol‐dependent chemiluminescence by tetrahydrobiopterin, and the free radical oxidation of tetrahydrobiopterin, dihydrobiopterin and dihydroneopterin

S. Heales, J. Blair, I. Ziegler, 1988, Cell biochemistry and function.

Bezafibrate induced increase in mitochondrial electron transport chain complex IV activity in human astrocytoma cells: Implications for mitochondrial cytopathies and neurodegenerative diseases

S. Heales, I. Hargreaves, J. Land, 2010, BioFactors.

Tandem mass spectrometry findings at autopsy for detection of metabolic disease in infant deaths: postmortem changes and confounding factors

N. Sebire, S. Heales, M. Weber, 2011, Journal of Clinical Pathology.

Protein aggregation and calcium dysregulation are hallmarks of familial Parkinson’s disease in midbrain dopaminergic neurons

D. Rusakov, D. Alessi, M. Horrocks, 2022, npj Parkinson's Disease.

Pretreatment of astrocytes with interferon-alpha/beta prevents neuronal mitochondrial respiratory chain damage.

S. Heales, J. Clark, J. Land, 1998, Journal of neurochemistry.

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

S. Ferdinandusse, H. Waterham, S. Rahman, 2013, Orphanet Journal of Rare Diseases.

Inhibition of mitochondrial complex IV leads to secondary loss complex II-III activity: implications for the pathogenesis and treatment of mitochondrial encephalomyopathies.

S. Heales, A. Duncan, I. Hargreaves, 2007, Mitochondrion.

Tetrahydrobiopterin availability, nitric oxide metabolism and glutathione status in the hph-1 mouse; implications for the pathogenesis and treatment of tetrahydrobiopterin deficiency states

S. Heales, K. Hyland, A. Lam, 2007, Journal of Inherited Metabolic Disease.

Glutathione deficiency in patients with mitochondrial disease: Implications for pathogenesis and treatment

S. Heales, I. Hargreaves, Y. Sheena, 2005, Journal of Inherited Metabolic Disease.

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

Jacqueline A Palace, R. Page, J. Holton, 2012, Neurology.

Association between mitochondrial dysfunction and severity and outcome of septic shock

John Land, Chris E Cooper, David Brealey, 2002, The Lancet.

Glucocerebrosidase Deficiency in Substantia Nigra of Parkinson Disease Brains

J. Hardy, A. Schapira, N. Wood, 2012, Annals of neurology.

Cerebrospinal Fluid Concentrations of Pterins and Metabolites of Serotonin and Dopamine in a Pediatric Reference Population

D. Howells, R. Surtees, S. Heales, 1993, Pediatric Research.

Nitric oxide and neurological disorders.

Andrew J Duncan, S. Heales, A. Duncan, 2005, Molecular aspects of medicine.

Drug-Induced Mitochondrial Toxicity

S. Heales, I. Hargreaves, Mesfer Al Shahrani, 2016, Drug Safety.

Cerebral folate deficiency: Analytical tests and differential diagnosis

S. Rahman, R. Artuch, S. Heales, 2019, Journal of inherited metabolic disease.

Cerebral folate deficiency

J. Shoffner, S. Heales, K. Hyland, 2010, Journal of Inherited Metabolic Disease.

An LC–MS/MS-Based Method for the Quantification of Pyridox(am)ine 5′-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy

K. Mills, P. Clayton, S. Heales, 2017, Analytical chemistry.

Professor John B. Clark, Bsc PhD DSc: a neurochemistry pioneer and true gentleman

J. Bolaños, S. Heales, 2013 .

Nitric oxide accelerates the degradation of tetrahydrobiopterin but not total neopterin in cerebrospinal fluid; potential implications for the assessment of tetrahydrobiopterin metabolism

S. Heales, A. Lam, 2007, Annals of clinical biochemistry.

Tetrahydrobiopterin and quinonoid dihydrobiopterin concentrations in CSF from patients with dihydropteridine reductase deficiency

S. Heales, K. Hyland, 1993, Journal of Inherited Metabolic Disease.

Differential effect of nitric oxide on glutathione metabolism and mitochondrial function in astrocytes and neurones: implications for neuroprotection/neurodegeneration?

S Moncada, S. Moncada, J. Bolaños, 2003, Journal of neurochemistry.

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

M. Duchen, S. Heales, J. Hothersall, 2005, Journal of neurochemistry.

Nitric oxide, mitochondria and neurological disease.

J M Land, J. Bolaños, S. Heales, 1999, Biochimica et biophysica acta.

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

H. Christen, M. Reith, S. Heales, 2010, The Lancet Neurology.

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

Paul Gissen, Shu-Yuan Cheng, M. Reith, 2009, The Journal of clinical investigation.

Microglial neurotransmitter receptors trigger superoxide production in microglia; consequences for microglial–neuronal interactions

S. Eaton, S. Heales, J. Pocock, 2012, Journal of neurochemistry.

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

S. Heales, J. Land, G. Allen, 2009, Molecular genetics and metabolism.

Glutamate neurotoxicity is associated with nitric oxide-mediated mitochondrial dysfunction and glutathione depletion

Á. Almeida, J. Bolaños, S. Heales, 1998, Brain Research.

Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies

M. Bertoldi, S. Heales, M. Kurian, 2021, Brain : a journal of neurology.

Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma

K. Ashkan, J. McGeehan, S. Heales, 2019, International journal of molecular sciences.

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

I. Nelson, N. Wood, S. Heales, 1998, American journal of human genetics.

PINK1 protein in normal human brain and Parkinson's disease.

J. Holton, A. Lees, T. Révész, 2006, Brain : a journal of neurology.

PINK 1 protein in normal human brain and Parkinson ’ s disease

J. Holton, A. Lees, T. Révész, 2006 .

The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency.

A. Paiardini, M. Bertoldi, S. Heales, 2016, Biochimica et biophysica acta.

Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons

J. Cooper, S. Heales, P. Rezaie, 2017, Acta Neuropathologica Communications.

Blood Mononuclear Cell Mitochondrial Respiratory Chain Complex IV Activity is Decreased in Multiple Sclerosis Patients: Effects of β-Interferon Treatment

S. Heales, I. Hargreaves, J. Land, 2018, Journal of clinical medicine.

Nitric oxide-induced mitochondrial dysfunction: implications for neurodegeneration.

S. Heales, V. Stewart, 2003, Free radical biology & medicine.

Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson’s Disease

S. Heales, I. Hargreaves, M. Orford, 2017, Journal of clinical medicine.

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

A. Singleton, D. Kullmann, F. Muntoni, 2017, Brain : a journal of neurology.

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.

V. de Crécy-Lagard, P. Clayton, V. Crécy-Lagard, 2016, American journal of human genetics.

Establishment of paediatric age-related reference intervals for serum prolactin to aid in the diagnosis of neurometabolic conditions affecting dopamine metabolism

S. Heales, H. Aitkenhead, 2013, Annals of clinical biochemistry.

The monoamine neurotransmitter disorders: an expanding range of neurological syndromes

P. Clayton, S. Heales, M. Kurian, 2011, The Lancet Neurology.

Monoamine neurotransmitter disorders—clinical advances and future perspectives

S. Heales, M. Kurian, A. Papandreou, 2015, Nature Reviews Neurology.

Cerebrospinal fluid folate, ascorbate, and tetrahydrobiopterin deficiency in superficial siderosis: A new potential mechanism of neurological dysfunction?

D. Werring, S. Heales, S. Pope, 2020, Journal of the Neurological Sciences.

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

S. Rahman, S. Heales, S. Eaton, 2013, Neurochemistry International.

CNS Langerhans cell histiocytosis: Common hematopoietic origin for LCH‐associated neurodegeneration and mass lesions

J. Quinn, M. Merad, C. Rodríguez-Galindo, 2018, Cancer.

Defining the Newborn Blood Spot Screening Reference Interval for TSH: Impact of Ethnicity

T. Cole, P. Hindmarsh, S. Heales, 2016, The Journal of clinical endocrinology and metabolism.

Decreased endothelial cell glutathione and increased sensitivity to oxidative stress in an in vitro blood–brain barrier model system

S. Heales, R. Hurst, J. Clark, 1998, Brain Research.

ATAD 3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Y. Okazaki, J. Smeitink, S. Heales, 2017 .

Depletion of reduced glutathione precedes inactivation of mitochondrial enzymes following limbic status epilepticus in the rat hippocampus

M. Thom, S. Heales, Hannah R Cock, 2006, Neurochemistry International.

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

M. Verbeek, H. Goez, J. Friedman, 2020, Orphanet Journal of Rare Diseases.

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

M. Verbeek, H. Goez, J. Friedman, 2020, Orphanet Journal of Rare Diseases.

Mitochondrial impairment and rescue in riboflavin responsive neuropathy

A. Singleton, D. Kullmann, F. Muntoni, 2017, bioRxiv.

Oxidative phosphorylation: structure, function, and intermediary metabolism.

S. Heales, M. Gegg, Matthew E Gegg, 2002, International review of neurobiology.

Glutathione depletion is accompanied by increased neuronal nitric oxide synthase activity

J. Bolaños, S. Heales, J. Clark, 2006, Neurochemical Research.

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

S. Heales, W. Purcell, R. Hurst, 2002, Neuroreport.

Neurodegeneration or Neuroprotection: The Pivotal Role of Astrocytes

S. Heales, A. Duncan, J. Land, 2004, Neurochemical Research.

Dysregulation of glucose metabolism is an early event in sporadic Parkinson's disease☆

A. Lees, J. Holton, S. Heales, 2014, Neurobiology of Aging.

Interrelationships between astrocyte function, oxidative stress and antioxidant status within the central nervous system

M. Duchen, Á. Almeida, J. Bolaños, 1997, Progress in Neurobiology.

Reversible parkinsonism following heroin pyrolysate inhalation is associated with tetrahydrobiopterin deficiency

P. Rudge, S. Heales, F. Crawley, 2004, Movement disorders : official journal of the Movement Disorder Society.

Stimulation of glyceraldehyde‐3‐phosphate dehydrogenase by oxyhemoglobin

S. Heales, P. Brookes, J. Land, 1997, FEBS letters.

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

P. Pavlidis, C. Ross, W. Wasserman, 2016, Molecular genetics and metabolism.

Paroxysmal dystonic choreoathetosis: Clinical features and investigation of pathophysiology in a large family

C. Marsden, C. Davie, S. Taylor-Robinson, 2000, Movement disorders : official journal of the Movement Disorder Society.

Increased inducible nitric oxide synthase protein but limited nitric oxide formation occurs in astrocytes of the hph-1 (tetrahydrobiopterin deficient) mouse

S. Heales, J. Land, R. Hurst, 1998, Brain Research.

CHAPTER C7 – The hph-1 Mouse

S. Heales, K. Hyland, 2005 .

Proposed Therapeutic Range of Treosulfan in Reduced Toxicity Pediatric Allogeneic Hematopoietic Stem Cell Transplant Conditioning: Results From a Prospective Trial

G. Lucchini, A. Gennery, P. Veys, 2019, Clinical pharmacology and therapeutics.

Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients.

Rafael Artuch, Aida Ormazabal, Keith Hyland, 2008, Molecular genetics and metabolism.

Effect of Peroxynitrite on the Mitochondrial Respiratory Chain: Differential Susceptibility of Neurones and Astrocytes in Primary Culture

J. Bolaños, S. Heales, J. Land, 1995, Journal of neurochemistry.

Association of cerebrospinal fluid deficiency of 5-methyltetrahydrofolate, but not S-adenosylmethionine, with reduced concentrations of the acid metabolites of 5-hydroxytryptamine and dopamine.

R. Surtees, S. Heales, A. Bowron, 1994, Clinical science.

Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: Case report and literature review

M. Edwards, K. Bhatia, N. Wood, 2010, Movement disorders : official journal of the Movement Disorder Society.

Nitric oxide produced by activated astrocytes rapidly and reversibly inhibits cellular respiration

J. Bolaños, S. Heales, Guy C. Brown, 1995, Neuroscience Letters.

CoQ10 Deficient Endothelial Cell Culture Model for the Investigation of CoQ10 Blood–Brain Barrier Transport

S. Heales, J. Preston, R. Dalton, 2020, Journal of clinical medicine.

Persistent Mitochondrial Damage by Nitric Oxide and its Derivatives: Neuropathological Implications

Simon J. R. Heales, J. Bolaños, S. Heales, 2009, Front. Neuroenerg..

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

M. Walker, J. Cross, S. Heales, 2018, The Lancet Neurology.

Medium chain triglyceride ketogenic diet in neurological and metabolic disorders

M. Walker, J. Cross, S. Heales, 2017 .

Differential effects of albumin on microglia and macrophages; implications for neurodegeneration following blood–brain barrier damage

S. Heales, C. Hooper, J. Pocock, 2009, Journal of neurochemistry.

Consequences of long-term oral administration of the mitochondria-targeted antioxidant MitoQ to wild-type mice.

D. Rubinsztein, H. M. Cochemé, Robin A. J. Smith, 2010, Free radical biology & medicine.

Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance

S. Heales, M. Hanna, I. Hargreaves, 2005, Neurology.

Stimulation of the Brain NO/Cyclic GMP Pathway by Peripheral Administration of Tetrahydrobiopterin in the hph‐1 Mouse

S. Heales, J. Land, J. Clark, 1999, Journal of neurochemistry.

Alternative Substrates in the Critically Ill Subject (ASICS): Safety, Feasibility, Tolerability and Metabolic Profiling of a Novel Ketogenic Feed

R. Pearse, H. Crossland, S. Heales, 2023, medRxiv.

Peroxynitrite and Brain Mitochondria: Evidence for Increased Proton Leak

S. Heales, P. Brookes, J. Land, 1998, Journal of neurochemistry.

Pentose-phosphate pathway disruption in the pathogenesis of Parkinson’s disease

J. Bolaños, S. Heales, L. Dunn, 2014 .

PENTOSEPHOSPHATE PATHWAY DISRUPTION IN THE PATHOGENESIS

J. Bolaños, S. Heales, L. Dunn, 2014 .

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

S. Sisodiya, A. Kapelner, N. Schoeler, 2017, Epilepsia.

BRAF-V600E in Peripheral Mononuclear Cells and Microglia-like Brain Cells Suggest Hematopoietic Origin of Langerhans Cell Histiocytosis-Associated Neurodegeneration

J. Quinn, M. Merad, C. Rodríguez-Galindo, 2017 .

Nitric oxide-mediated mitochondrial damage: a potential neuroprotective role for glutathione.

J. Bolaños, S. Heales, J. Clark, 1996, Free radical biology & medicine.

Low CSF 5‐HIAA in Myoclonus Dystonia

J. Friedman, S. Heales, M. Kurian, 2017, Movement disorders : official journal of the Movement Disorder Society.

The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome

S. Rahman, S. Heales, E. Fassone, 2016, Journal of Inherited Metabolic Disease.

Mitochondrial cytochrome c release: a factor to consider in mitochondrial disease?

S. Heales, S. Pope, J. Land, 2009, Journal of Inherited Metabolic Disease.

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.

Robert A. Harris, R. Wanders, M. Durán, 2007, American journal of human genetics.

Mitochondrial dysfunction associated with neuronal death following status epilepticus in rat

M. Walker, S. Heales, Hannah R Cock, 2002, Epilepsy Research.

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

S. Heales, A. Bowron, S. Qureshi, 2015, Journal of Inherited Metabolic Disease.

Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

S. Heales, A. Bowron, S. Qureshi, 2014, Journal of Inherited Metabolic Disease.

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases

H. Houlden, S. Heales, A. Pittman, 2019, Journal of clinical medicine.

Selective Decrease in Central Nervous System Serotonin Turnover in Children with Dopa-Nonresponsive Dystonia

R. Surtees, S. Heales, G. Hoffmann, 2002, Pediatric Research.

PDXK mutations cause polyneuropathy responsive to PLP supplementation

Henrik, Houlden, J. Rothman, 2019 .

Correction: Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

D. Grozeva, H. Bergman, D. Arkadir, 2017, Nature Genetics.

Interrelationships between astrocyte function, oxidative stress and antioxidant status in the CNS

Duchen, J. Bolaños, S. Heales, 1997 .

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

Jake Jacobson, M. Duchen, S. Heales, 2002, Journal of neurochemistry.

Trolox protects mitochondrial complex IV from nitric oxide-mediated damage in astrocytes

S. Heales, J. Land, J. Clark, 1994, Brain Research.

Elevated cerebrospinal fluid and serum nitrate and nitrite levels in patients with central nervous system complications of HIV-1 infection: a correlation with blood-brain-barrier dysfunction

R. Miller, G. Giovannoni, S. Heales, 1998, Journal of the Neurological Sciences.

Impairment of the nitric oxide/cyclic GMP pathway in cerebellar slices prepared from thehph-1 mouse

S. Heales, J. Clark, J. Land, 1996, Brain Research.

Pretreatment of Astrocytes with Interferon‐α/β Impairs Interferon‐γ Induction of Nitric Oxide Synthase

W. Mcdonald, G. Giovannoni, S. Heales, 1997 .

Evidence for increased nitric oxide production in multiple sclerosis.

J. Bolaños, S. Heales, E. Thompson, 1995, Journal of neurology, neurosurgery, and psychiatry.

Nitric oxide‐dependent damage to neuronal mitochondria involves the NMDA receptor

A. Heslegrave, S. Heales, G. Brown, 2002, The European journal of neuroscience.

The assumption that nitric oxide inhibits mitochondrial ATP synthesis is correct

J. Bolaños, S. Heales, P. Brookes, 1999, FEBS letters.

Some Observations upon Biochemical Causes of Ataxia and a New Disease Entity Ubiquinone, CoQ10 Deficiency

S. Heales, A. Duncan, I. Hargreaves, 2007, Neurochemical Research.

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

Robert W. Taylor, R. Horvath, S. Heales, 2010, Neuromuscular Disorders.

Correction: PINK1 Is Necessary for Long Term Survival and Mitochondrial Function in Human Dopaminergic Neurons

S. Tabrizi, E. Miljan, J. Downward, 2008, PLoS ONE.

Expression of mutant exon 1 huntingtin fragments in human neural stem cells and neurons causes inclusion formation and mitochondrial dysfunction

S. Tabrizi, G. Bates, S. Heales, 2020, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Activation of Neuronal Nitric-oxide Synthase by the 5-Methyl Analog of Tetrahydrobiopterin

E. Werner, B. Mayer, S. Heales, 1999, The Journal of Biological Chemistry.

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

M. Sweeney, J. Polke, S. Heales, 2011, Movement disorders : official journal of the Movement Disorder Society.

Peroxynitrite Anion Stimulates Arginine Release from Cultured Rat Astrocytes

Á. Almeida, S. Heales, J. Medina, 1999, Journal of neurochemistry.

Glutamate induces release of glutathione from cultured rat astrocytes – a possible neuroprotective mechanism?

J. Laranjinha, R. Barbosa, S. Heales, 2008, Journal of neurochemistry.

Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.

P. Navas, P. Clayton, R. Artuch, 2015, JIMD reports.

Inhibition of tetrahydrobiopterin synthesis reduces in vivo nitric oxide production in experimental endotoxic shock.

S. Heales, R. Cammack, J. K. Shergill, 1996, Biochemical and biophysical research communications.

Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC

A. Ormazabal, R. Artuch, S. Heales, 2017, Nature Protocols.

Neurochemical Effects Following Peripheral Administration of Tetrahydropterin Derivatives to the hph‐1 Mouse

S. Heales, S. Heales, K. Hyland, 1996, Journal of neurochemistry.

Increased urinary nitric oxide metabolites in patients with multiple sclerosis correlates with early and relapsing disease

R. Miller, G. Giovannoni, M. Feldmann, 1999, Multiple sclerosis.

Mitochondrial Disease: A Historical, Biochemical, and London Perspective

S. Heales, I. Hargreaves, J. Morgan-Hughes, 2004, Neurochemical Research.

Tetrahydrobiopterin deficiency and brain nitric oxide synthase in thehph1 mouse

S. Heales, J. Clark, J. Land, 1995, Journal of Inherited Metabolic Disease.

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

J. Bolaños, S. Heales, 2002, Neurochemistry International.

Evaluation of the efficacy of potential therapeutic agents at protecting against nitric oxide synthase-mediated mitochondrial damage in activated astrocytes.

J. Bolaños, S. Heales, J. Clark, 1997, Brain research. Brain research protocols.

Alterations in expression of dopamine receptors and neuropeptides in the striatum of GTP cyclohydrolase-deficient mice

S. Heales, P. Jenner, B. Zeng, 2004, Experimental Neurology.

Cerebrospinal fluid concentrations of nitrate plus nitrite during the treatment of acute lymphoblastic leukaemia in childhood.

R. Surtees, S. Heales, J. Clelland, 1998, Leukemia research.

Development of pharmacological strategies for mitochondrial disorders

S. Rahman, S. Heales, S. Rahman, 2014, British journal of pharmacology.

Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency.

S. Heales, P. Rinaldo, J. Leonard, 1993, The Journal of pediatrics.

Assessment of Mitochondrial Dysfunction in Experimental Autoimmune Encephalomyelitis (EAE) Models of Multiple Sclerosis

S. Heales, I. Hargreaves, M. Sadeghian, 2019, International journal of molecular sciences.

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

J. Rothman, D. Kullmann, D. Timmann, 2019, Annals of neurology.

The need for biochemical testing in beta‐enolase deficiency in the genomic era

H. Houlden, S. Heales, R. Kirk, 2019, JIMD reports.

K.Vita: a feasibility study of a blend of medium chain triglycerides to manage drug-resistant epilepsy

S. Eaton, M. Walker, S. Sisodiya, 2021, Brain communications.

Infantile parkinsonism-dystonia and elevated dopamine metabolites in CSF

R. Robinson, R. Surtees, R. Wevers, 2004, Neurology.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

D. Grozeva, H. Bergman, D. Arkadir, 2016, Nature Genetics.

Nitric Oxide‐Mediated Inhibition of the Mitochondrial Respiratory Chain in Cultured Astrocytes

J. Bolaños, S. Heales, J. Land, 1994, Journal of neurochemistry.

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

S. Heales, J. Land, G. Allen, 2009, Molecular genetics and metabolism.

A rostrocaudal gradient of nitrate plus nitrite concentrations in CSF.

R. Surtees, S. Heales, 1997, Journal of neurology, neurosurgery, and psychiatry.

The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency.

A. Paiardini, M. Bertoldi, S. Heales, 2016, Biochimica et biophysica acta.

Intravenous L-Carnitine and Acetyl-L-Carnitine in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Isovaleric Acidemia

S. Heales, D. Millington, C. Roe, 1994, Pediatric Research.

Nitric oxide and antioxidant status in glucose and oxygen deprived neonatal and adult rat brain synaptosomes

S. Heales, J. Clark, J. Land, 1996, Neurochemical Research.

O6-1 Loss-of-function mutations in the gene encoding the dopamine transporter, SLC6A3, cause Infantile Parkinsonism Dystonia (IPD)

S. Heales, J. Zhen, M. Kurian, 2009 .

Effect of Coenzyme Q10 supplementation on mitochondrial electron transport chain activity and mitochondrial oxidative stress in Coenzyme Q10 deficient human neuronal cells.

S. Rahman, S. Heales, I. Hargreaves, 2014, International Journal of Biochemistry and Cell Biology.

Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC

A. Ormazabal, R. Artuch, S. Heales, 2017, Nature Protocols.