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. ncbi 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 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
  7. pmc Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation
    Marc P Forrest
    Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, United Kingdom
    PLoS ONE 8:e73169. 2013
  8. doi request reprint Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review
    Kathryn J Peall
    MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff, United Kingdom
    Mov Disord 26:1939-42. 2011
  9. ncbi request reprint Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion
    Adrian J Waite
    Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cathays, Cardiff, UK Electronic address
    Neurobiol Aging 35:1779.e5-1779.e13. 2014
  10. ncbi request reprint The emerging roles of TCF4 in disease and development
    Marc P Forrest
    Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK
    Trends Mol Med 20:322-31. 2014

Collaborators

Detail Information

Publications12

  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. ncbi 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 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...
  7. pmc Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation
    Marc P Forrest
    Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, United Kingdom
    PLoS ONE 8:e73169. 2013
    ..These data suggest that TCF4 regulates a number of convergent signaling pathways involved in cell differentiation and survival in addition to a subset of clinically important mental retardation genes. ..
  8. doi request reprint Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review
    Kathryn J Peall
    MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff, United Kingdom
    Mov Disord 26:1939-42. 2011
    ..Mutations in the maternally imprinted epsilon-sarcoglycan gene occur in 30%-50% of myoclonus-dystonia cases. Psychiatric symptoms, particularly obsessive-compulsive disorder, have been described in some patients...
  9. ncbi request reprint Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion
    Adrian J Waite
    Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cathays, Cardiff, UK Electronic address
    Neurobiol Aging 35:1779.e5-1779.e13. 2014
    ..These data suggest that a reduction in C9orf72 protein may be a consequence of the disease...
  10. ncbi request reprint The emerging roles of TCF4 in disease and development
    Marc P Forrest
    Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK
    Trends Mol Med 20:322-31. 2014
    ..Here, we review the role of TCF4 in these seemingly diverse disorders and discuss recent data implicating TCF4 as an important regulator of neurodevelopment and epithelial-mesenchymal transition. ..
  11. 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...
  12. 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...