Derek J Blake

Summary

Affiliation: Cardiff University
Country: UK

Publications

  1. doi request reprint The neurobiology of the dystrophin-associated glycoprotein complex
    Adrian Waite
    Department of Psychological Medicine, Cardiff University, Heath Park, Cardiff, UK
    Ann Med 41:344-59. 2009
  2. pmc TRIM32 is an E3 ubiquitin ligase for dysbindin
    Matthew Locke
    Department of Psychological Medicine, Cardiff University, Cardiff, UK
    Hum Mol Genet 18:2344-58. 2009
  3. pmc TCF4, schizophrenia, and Pitt-Hopkins Syndrome
    Derek J Blake
    Department of Psychological Medicine and Neurology, Medical Research Council Center for Neuropsychiatric Genetics and Genomics, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK
    Schizophr Bull 36:443-7. 2010
  4. doi request reprint Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome
    Marc Forrest
    Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK
    Hum Mutat 33:1676-86. 2012
  5. doi request reprint SGCE mutations cause psychiatric disorders: clinical and genetic characterization
    Kathryn J Peall
    MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Henry Wellcome Building, Heath Park, Cardiff, UK
    Brain 136:294-303. 2013
  6. doi request reprint A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway
    Adrian Waite
    Department of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Heath Park, Cardiff, UK
    Hum Mutat 32:1246-58. 2011
  7. doi request reprint Recent advances in the genetics of the ALS-FTLD complex
    Huw R Morris
    MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff CF14 4XN, UK
    Curr Neurol Neurosci Rep 12:243-50. 2012
  8. doi request reprint The dystrophin-glycoprotein complex in brain development and disease
    Adrian Waite
    Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Trends Neurosci 35:487-96. 2012

Collaborators

Detail Information

Publications8

  1. doi request reprint The neurobiology of the dystrophin-associated glycoprotein complex
    Adrian Waite
    Department of Psychological Medicine, Cardiff University, Heath Park, Cardiff, UK
    Ann Med 41:344-59. 2009
    ..In this review we describe the recent progress in defining the role of the DGC and associated proteins in the brain...
  2. pmc TRIM32 is an E3 ubiquitin ligase for dysbindin
    Matthew Locke
    Department of Psychological Medicine, Cardiff University, Cardiff, UK
    Hum Mol Genet 18:2344-58. 2009
    ..Our data identify TRIM32 as a regulator of dysbindin and demonstrate that the LGMD2H/STM mutations may impair substrate ubiquitination...
  3. pmc TCF4, schizophrenia, and Pitt-Hopkins Syndrome
    Derek J Blake
    Department of Psychological Medicine and Neurology, Medical Research Council Center for Neuropsychiatric Genetics and Genomics, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK
    Schizophr Bull 36:443-7. 2010
    ..These data suggest that TCF4, NRXN1, and CNTNAP2 may participate in a biological pathway that is altered in patients with schizophrenia and other neuropsychiatric disorders...
  4. doi request reprint Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome
    Marc Forrest
    Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK
    Hum Mutat 33:1676-86. 2012
    ....
  5. doi request reprint SGCE mutations cause psychiatric disorders: clinical and genetic characterization
    Kathryn J Peall
    MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Henry Wellcome Building, Heath Park, Cardiff, UK
    Brain 136:294-303. 2013
    ..SGCE mutations are likely to have a pleiotropic effect in causing both motor and specific psychiatric symptoms...
  6. doi request reprint A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway
    Adrian Waite
    Department of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Heath Park, Cardiff, UK
    Hum Mutat 32:1246-58. 2011
    ..Our findings show that functional analysis of rare missense mutations can provide a mechanistic insight into the pathogenesis of MDS and the physiological role of ε-sarcoglycan...
  7. doi request reprint Recent advances in the genetics of the ALS-FTLD complex
    Huw R Morris
    MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff CF14 4XN, UK
    Curr Neurol Neurosci Rep 12:243-50. 2012
    ..The identification of mutations in these genes represents an important step forward in our understanding of the clinical, pathological, and genetic spectrum of ALS/FTLD diseases...
  8. doi request reprint The dystrophin-glycoprotein complex in brain development and disease
    Adrian Waite
    Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Trends Neurosci 35:487-96. 2012
    ..Furthermore, mutations in the gene encoding ɛ-sarcoglycan (SGCE) cause the neurogenic movement disorder myoclonus dystonia syndrome. In this review, we describe recent progress in defining distinct roles for the DGC in neurons and glia...