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  • Patrick J. Pollard, Jean Briére, +18 authors Ian P. M. Tomlinson
  • Medicine, Biology
  • Human molecular genetics
  • 2005 (First Publication: 1 August 2005)
  • 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 toContinue Reading
  • L Miguel Martins, Alastair Morrison, +16 authors Julian Downward
  • Biology, Medicine
  • Molecular and cellular biology
  • 2004 (First Publication: 15 November 2004)
  • 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 bindingContinue Reading
  • Andrew J. Duncan, Maria A. K. Bitner-Glindzicz, +10 authors Shamima Rahman
  • Medicine, Biology
  • American journal of human genetics
  • 2009 (First Publication: 1 May 2009)
  • Coenzyme Q(10) is a mobile lipophilic electron carrier located in the inner mitochondrial membrane. Defects of coenzyme Q(10) biosynthesis represent one of the few treatable mitochondrial diseases.Continue Reading
  • Sean David Hughes, Marta Kanabus, +7 authors Simon J. R. Heales
  • Medicine, Biology
  • Journal of neurochemistry
  • 2014 (First Publication: 1 May 2014)
  • The Ketogenic diet (KD) is an effective treatment with regards to treating pharmaco-resistant epilepsy. However, there are difficulties around compliance and tolerability. Consequently, there is aContinue Reading
  • Iain P. Hargreaves
  • Biology, Medicine
  • The international journal of biochemistry & cell…
  • 2014 (First Publication: 1 April 2014)
  • Treatment of mitochondrial respiratory chain (MRC) disorders is extremely difficult, however, coenzyme Q10 (CoQ10) and its synthetic analogues are the only agents which have shown some therapeuticContinue Reading