Prof. Derek J. Blake
Based at the Department of Psychological Medicine & Neurology, School of Medicine
Research Keywords
Protein trafficking, ubiquitin, schizophrenia genetics, movement disorders, muscular dystrophy, cognitive impairment, proteomics.
Research Interests and Facilities
My research is concerned with the molecular pathology of disorders such as the muscular dystrophies, dystonia and schizophrenia that have a strong genetic component and are frequently associated with neurological or neuropsychiatric abnormalities. My laboratory is particularly interested in the effects of inherited mutations and polymorphisms on the function of proteins implicated in these diseases. Our recent studies have shown that the ubiquitin proteasome system can modulate the stability and trafficking of proteins associated with this diverse group of disorders. The work in my laboratory is funded by grants from the Wellcome Trust, MRC and MNDA.
My laboratory is located in the Henry Wellcome Building for Biomedical Research in Wales and boasts state of the art facilities for molecular cell biology and proteomics. We use fluorescence and confocal imaging systems to study physiological processes in live cells and we have considerable expertise in the functional analysis of multiprotein complexes isolated from whole tissue. This work involves the use of various interaction traps and ultra-sensitive, Fourier Transform Ion Cyclotron Resonance Mass Spectrometry.
Available PhD Projects
- Functional analysis of schizophrenia risk genes.
- The molecular genetics of the movement disorder, myoclonus dystonia syndrome.
- The ubiquitin proteasome system and neurodegenerative disease.
- The molecular basis for cognitive dysfunction in muscular dystrophy.
Publications
- Forrest M, et al., (2012) Functional analysis of TCF4 missense mutations that caused Pitt-Hopkins Syndrome. Human Mutation, in press.
- Waite A, et al., (2012) The dystrophin-glycoprotein complex in brain development and disease. Trends in Neuroscience, 35: 487-496.
- Waite A, et al., (2011) A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway. Human Mutation, 32: 1246-1258.
- Blake DJ, et al., (2010) TCF4, schizophrenia and Pitt-Hopkins Syndrome. Schizophrenia Bulletin, 36: 443-447.
- Locke M, et al., (2009) TRIM32 is an E3 ubiquitin ligase for dysbindin. Human Molecular Genetics, 18: 2344-2358.