Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Simon J.R. Heales"'
Autor:
Javier S. Bautista, Micol Falabella, Padraig J. Flannery, Michael G. Hanna, Simon J.R. Heales, Simon A.S. Pope, Robert D.S. Pitceathly
Publikováno v:
TrAC Trends in Analytical Chemistry. 157:116808
Autor:
Nicholas W. Wood, J. Mark Cooper, Derek Burke, Anthony H.V. Schapira, Simon J.R. Heales, Matthew E. Gegg, John Hardy
Publikováno v:
Annals of Neurology
The lysosomal storage disorder Gaucher disease (GD) is caused by autosomal recessive mutations in the glucocerebrosidase (GBA) gene. GBA encodes a lysosomal enzyme (GCase) that catalyses the metabolism of the sphingolipid glucosylceramide to ceramide
Publikováno v:
The Lancet Neurology. 10:721-733
The monoamine neurotransmitter disorders consist of a rapidly expanding heterogeneous group of neurological syndromes characterised by primary and secondary defects in the biosynthesis degradation, or transport of dopamine, norepinephrine, epinephrin
Autor:
Simon J.R. Heales, David S. Latchman, A J Lees, Nicholas W. Wood, Patrick M. Abou-Sleiman, Lee Stanyer, M Ganguly, Tamas Revesz, Sonia Gandhi, Daniel G. Healy, Iain P. Hargreaves, L Parsons, Janice L. Holton, Miratul M. K. Muqit
Publikováno v:
Brain. 129:1720-1731
Parkinson's disease is a common incurable neurodegenerative disease whose molecular aetiology remains unclear. The identification of Mendelian genes causing rare familial forms of Parkinson's disease has revealed novel proteins and pathways that are
Autor:
Johannes Zschocke, Peter J. Scambler, Michael Champion, Simon J.R. Heales, Philippa B. Mills, Anthony Briddon, Irene Scheimberg, Clare E. Beesley, Peter E. Clayton, Georg F. Hoffmann, Neil Dalton, Robert Surtees
Publikováno v:
Human Molecular Genetics. 14:1077-1086
In the mouse, neurotransmitter metabolism can be regulated by modulation of the synthesis of pyridoxal 5'-phosphate and failure to maintain pyridoxal phosphate (PLP) levels results in epilepsy. This study of five patients with neonatal epileptic ence
Autor:
Kristina Klupsch, Hitoshi Okada, Alastair Morrison, Simon J.R. Heales, Tak W. Mak, Alison Martin, Nicoleta Moisoi, Julian Downward, George P. Livi, Peter Teismann, L. Miguel Martins, Alejandro Abuin, Evelyn Grau, Valentina Fedele, Sebastian Brandner, Caretha L. Creasy, Martin Geppert, Jörg B. Schulz, Iain P. Hargreaves
Publikováno v:
Molecular and Cellular Biology. 24:9848-9862
The serine protease HtrA2/Omi is released from the mitochondrial intermembrane space following apoptotic stimuli. Once in the cytosol, HtrA2/Omi has been implicated in promoting cell death by binding to inhibitor of apoptosis proteins (IAPs) via its
Publikováno v:
Journal of Neurochemistry. 63:910-916
The Ca(2+)-independent form of nitric oxide synthase was induced in rat neonatal astrocytes in primary culture by incubation with lipopolysaccharide (1 microgram/ml) plus interferon-gamma (100 U/ml), and the activities of the mitochondrial respirator
Autor:
Richard Bruckdorfer, Wilhelm Stahl, Ulrich Moser, José Viña-Ribes, Elizabeth K. Lund, Michele Lorusso, Simon J.R. Heales, Marco Di Paola, Juan P. Bolaños, Ruan M. Elliott, Sergio Papa, Anna Signorile, Malcolm J. Jackson, Jacoba Flier, Jan Øivind Moskaug, M. Cristina Polidori, Harald Carlsen, Siân B. Astley, Birgit Holst, Helen R. Griffiths
Publikováno v:
Molecular Aspects of Medicine. 23:209-285
Redox-sensitive cell signalling Thiol groups and the regulation of gene expression Redox-sensitive signal transduction pathways Protein kinases Protein phosphatases Lipids and phospholipases Antioxidant (electrophile) response element Intracellular c
Autor:
Hans-Jörg Habisch, Eva Pitters, Christoph Riethmüller, Benjamin Hemmens, Bernd Mayer, Simon J.R. Heales, Kurt Schmidt, Antonius C.F. Gorren, Ernst R. Werner
Publikováno v:
Journal of Biological Chemistry. 274:16047-16051
Tetrahydrobiopterin ((6R)-5,6,7,8-tetrahydro-l-biopterin (H4biopterin)) is an essential cofactor of nitric-oxide synthases (NOSs), but its role in enzyme function is not known. Binding of the pterin affects the electronic structure of the prosthetic
Autor:
John M. Land, E. J. Thompson, Robert F. Miller, M. J. G. Harrison, Gavin Giovannoni, Simon J.R. Heales
Publikováno v:
Journal of the Neurological Sciences. 156:53-58
As nitric oxide (.NO) is hypothesised to play a role in the immunopathogenesis of neurological complications associated with inflammation, we compared levels of cerebrospinal fluid (CSF) and serum .NO metabolites in 24 patients with HIV-1 infection,