Search Results - "Heales, S."

Development of pharmacological strategies for mitochondrial disorders by Kanabus, M, Heales, S J, Rahman, S

“…Mitochondrial diseases are an unusually genetically and phenotypically heterogeneous group of disorders, which are extremely challenging to treat. Currently,…”
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Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations by Pollard, P.J., Brière, J.J., Alam, N.A., Barwell, J., Barclay, E., Wortham, N.C., Hunt, T., Mitchell, M., Olpin, S., Moat, S.J., Hargreaves, I.P., Heales, S.J., Chung, Y.L., Griffiths, J.R., Dalgleish, A., McGrath, J.A., Gleeson, M.J., Hodgson, S.V., Poulsom, R., Rustin, P., Tomlinson, I.P.M.

“…The nuclear-encoded Krebs cycle enzymes, fumarate hydratase (FH) and succinate dehydrogenase (SDHB, -C and -D), act as tumour suppressors. Germline mutations…”
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Clinical Features and Pharmacotherapy of Childhood Monoamine Neurotransmitter Disorders by Ng, J., Heales, S. J. R., Kurian, M. A.

“…Childhood neurotransmitter disorders are increasingly recognised as an expanding group of inherited neurometabolic syndromes. They are caused by disturbance in…”
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Altered skeletal muscle insulin signaling and mitochondrial complex II-III linked activity in adult offspring of obese mice by Shelley, Piran, Martin-Gronert, Malgorzata S, Rowlerson, Anthea, Poston, Lucilla, Heales, S J R, Hargreaves, Iain P, McConnell, Josie M, Ozanne, Susan E, Fernandez-Twinn, Denise S

“…We recently reported insulin resistance in adult offspring of obese C57BL/6J mice. We have now evaluated whether parameters of skeletal muscle structure and…”
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Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency by Brun, L, Ngu, L H, Keng, W T, Ch'ng, G S, Choy, Y S, Hwu, W L, Lee, W T, Willemsen, M A A P, Verbeek, M M, Wassenberg, T, Régal, L, Orcesi, S, Tonduti, D, Accorsi, P, Testard, H, Abdenur, J E, Tay, S, Allen, G F, Heales, S, Kern, I, Kato, M, Burlina, A, Manegold, C, Hoffmann, G F, Blau, N

“…To describe the current treatment; clinical, biochemical, and molecular findings; and clinical follow-up of patients with aromatic l-amino acid decarboxylase…”
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Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease by Papandreou, A., Rahman, S., Fratter, C., Ng, J., Meyer, E., Carr, L. J., Champion, M., Clarke, A., Gissen, P., Hemingway, C., Hussain, N., Jayawant, S., King, M. D., Lynch, B. J., Mewasingh, L., Patel, J., Prabhakar, P., Neergheen, V., Pope, S., Heales, S. J. R., Poulton, J., Kurian, Manju A.

“…Objectives To describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmitter profiles in paediatric patients with POLG disease…”
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Differential effect of nitric oxide on glutathione metabolism and mitochondrial function in astrocytes and neurones: implications for neuroprotection/neurodegeneration? by Gegg, M. E., Beltran, B., Salas‐Pino, S., Bolanos, J. P., Clark, J. B., Moncada, S., Heales, S. J. R.

“…Primary culture rat astrocytes exposed to the long acting nitric oxide donor (Z)‐1‐[2‐aminoethyl)‐N‐(2‐ammonioethyl)amino]diazen‐1‐ium‐1,2‐diolate (DETA‐NO)…”
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PINK1 protein in normal human brain and Parkinson's disease by Gandhi, S., Muqit, M. M. K., Stanyer, L., Healy, D. G., Abou-Sleiman, P. M., Hargreaves, I., Heales, S., Ganguly, M., Parsons, L., Lees, A. J., Latchman, D. S., Holton, J. L., Wood, N. W., Revesz, T.

“…Parkinson's disease is a common incurable neurodegenerative disease whose molecular aetiology remains unclear. The identification of Mendelian genes causing…”
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TPK1 mutations: unmasking a potentially treatable cause of Leigh-like syndrome by Bugiardini, E, Poole, O.V, Pittman, A, Woodward, C.E, Sweeney, M.G, Heales, S, Houlden, H, Hanna, M.G, Pitceathly, R.D.S

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Tandem mass spectrometry findings at autopsy for detection of metabolic disease in infant deaths: postmortem changes and confounding factors by Pryce, J W, Weber, M A, Heales, S, Malone, M, Sebire, N J

“…Tandem mass spectrometry (MS/MS) is a recommended investigation for sudden unexpected death in infancy (SUDI), but there are limited data regarding yield and…”
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Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease by Papandreou, A., Rahman, S., Fratter, C., Ng, J., Meyer, E., Carr, L. J., Champion, M., Clarke, A., Gissen, P., Hemingway, C., Hussain, N., Jayawant, S., King, M. D., Lynch, B. J., Mewasingh, L., Patel, J., Prabhakar, P., Neergheen, V., Pope, S., Heales, S. J. R., Poulton, J., Kurian, Manju A.

“…Due to a typesetting error the wrong Table 2 was used. The correct Table 2 is shown here:…”
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Glutathione deficiency in patients with mitochondrial disease: Implications for pathogenesis and treatment by Hargreaves, I. P., Sheena, Y., Land, J. M., Heales, S. J. R.

“…Summary Glutathione (GSH) is a key intracellular antioxidant. With regard to mitochondrial function, loss of GSH is associated with impairment of the electron…”
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Mitochondrial cytochrome c release: a factor to consider in mitochondrial disease? by Oppenheim, M. L. S., Hargreaves, I. P, Pope, S., Land, J. M., Heales, S. J. R.

“…Summary The pathogenesis of mitochondrial disorders has largely focused on the impairment of cellular energy metabolism. However, mitochondrial dysfunction has…”
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Co-culture of neurones with glutathione deficient astrocytes leads to increased neuronal susceptibility to nitric oxide and increased glutamate-cysteine ligase activity by Gegg, M.E., Clark, J.B., Heales, S.J.R.

“…The antioxidant glutathione (GSH) plays an important role in protecting the mitochondrial electron transport chain (ETC) from damage by oxidative stress in…”
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Nitric oxide-mediated inhibition of the mitochondrial respiratory chain in cultured astrocytes by Bolaños, J P, Peuchen, S, Heales, S J, Land, J M, Clark, J B

“…The Ca(2+)-independent form of nitric oxide synthase was induced in rat neonatal astrocytes in primary culture by incubation with lipopolysaccharide (1…”
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Sustainability of elasmobranchs caught as bycatch in a tropical prawn trawl fishery by Stobutzki, Ilona C, Miller, Margaret J, Heales, Don S, Brewer, David T

“…Bycatch in Australia's northern shrimp fishery includes 56 elasmobranch species, whose sustainability is unknown under current bycatch rates. A…”
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Inhibition of mitochondrial complex IV leads to secondary loss complex II-III activity: implications for the pathogenesis and treatment of mitochondrial encephalomyopathies by Hargreaves, I P, Duncan, A J, Wu, L, Agrawal, A, Land, J M, Heales, S J R

“…Mitochondrial encephalomyopathies, arising from deficiencies of the electron transport chain (ETC) give rise to a wide clinical spectrum of presentation and…”
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Neonatal epileptic encephalopathy by Clayton, PT, Surtees, RAH, DeVile, C, Hyland, K, Heales, SJR

“…Neonatal epileptic encephalopathy (NEE) often presents within hours of birth with intractable seizures. Progressive deterioration can lead to death within…”
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Nitric Oxide‐Mediated Mitochondrial Damage in the Brain: Mechanisms and Implications for Neurodegenerative Diseases by Bolaños, Juan P., Almeida, Angeles, Stewart, Victoria, Peuchen, Stephan, Land, John M., Clark, John B., Heales, Simon J. R.

“…: Within the CNS and under normal conditions, nitric oxide (•NO) appears to be an important physiological signalling molecule. Its ability to increase cyclic…”
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Tetrahydrobiopterin availability, nitric oxide metabolism and glutathione status in the hph‐1 mouse; implications for the pathogenesis and treatment of tetrahydrobiopterin deficiency states by Lam, A. A. J., Hyland, K., Heales, S. J. R.

“…Tetrahydrobiopterin (BH4) is an essential cofactor for all isoforms of nitric oxide synthase. While it is well established that BH4 deficiency states are…”
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