Zobrazeno 1 - 7
of 7
pro vyhledávání: '"S J, Heales"'
Autor:
J. J. Briere, Patrick J. Pollard, John A. McGrath, Pierre Rustin, Tim Hunt, Noel C. Wortham, I. P. M. Tomlinson, J Barwell, John R. Griffiths, Richard Poulsom, Michael Gleeson, Yuen-Li Chung, Stuart James Moat, Shirley Hodgson, S. J. Heales, Ella Barclay, M. Mitchell, Iain P. Hargreaves, Simon E. Olpin, N. A. Alam, A. Dalgleish
The nuclear-encoded Krebs cycle enzymes, fumarate hydratase (FH) and succinate dehydrogenase (SDHB, -C and -D), act as tumour suppressors. Germline mutations in FH predispose individuals to leiomyomas and renal cell cancer (HLRCC), whereas mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69b9dc50ebc4c834eaaac43194c8a5b9
https://ora.ox.ac.uk/objects/uuid:de46a702-0f5a-4b29-b48b-1de3034c087a
https://ora.ox.ac.uk/objects/uuid:de46a702-0f5a-4b29-b48b-1de3034c087a
Publikováno v:
British Journal of Pharmacology
Mitochondrial diseases are an unusually genetically and phenotypically heterogeneous group of disorders, which are extremely challenging to treat. Currently, apart from supportive therapy, there are no effective treatments for the vast majority of mi
Autor:
P R, Jarman, K P, Bhatia, C, Davie, S J, Heales, N, Turjanski, S D, Taylor-Robinson, C D, Marsden, N W, Wood
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 15(4)
Paroxysmal dystonic choreoathetosis (PDC) is an unusual hyperkinetic movement disorder characterized by attacks of chorea, dystonia, and ballism with onset in childhood. We report a large British family with dominantly inherited PDC linked to chromos
Autor:
C, Riethmüller, A C, Gorren, E, Pitters, B, Hemmens, H J, Habisch, S J, Heales, K, Schmidt, E R, Werner, B, Mayer
Publikováno v:
The Journal of biological chemistry. 274(23)
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
Publikováno v:
Biochemical Society transactions. 26(4)
Publikováno v:
Biochemical Society transactions. 26(4)
Publikováno v:
Biochemical Society transactions. 26(4)