Derek Blake

Derek Blake

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Derek Blake

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A novel mutation in a family with diverse frontotemporal dementia spectrum disorders.

Cold Spring Harb Mol Case Stud 2019 Jun 3;5(3). Epub 2019 Jun 3.

Department of Clinical and Movement Neurosciences, Dementia Research Centre, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom.

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http://dx.doi.org/10.1101/mcs.a003913DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549548PMC
June 2019

Transcriptional Changes following Cellular Knockdown of the Schizophrenia Risk Gene Are Enriched for Common Variant Association with the Disorder.

Mol Neuropsychiatry 2019 Apr 25;5(2):109-114. Epub 2019 Mar 25.

MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University School of Medicine, Cardiff, United Kingdom.

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http://dx.doi.org/10.1159/000497181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528089PMC
April 2019

Convergent Evidence That ZNF804A Is a Regulator of Pre-messenger RNA Processing and Gene Expression.

Schizophr Bull 2018 Dec 29. Epub 2018 Dec 29.

Division of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1093/schbul/sby183DOI Listing
December 2018

The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability.

Schizophr Bull 2018 08;44(5):1100-1110

Division of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, UK.

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https://academic.oup.com/schizophreniabulletin/article/44/5/
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http://dx.doi.org/10.1093/schbul/sbx164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6101561PMC
August 2018

Meta-Analysis of Cell Therapy Studies in Heart Failure and Acute Myocardial Infarction.

Circ Res 2018 07;123(2):301-308

Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, United Kingdom (E.M.R.).

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http://dx.doi.org/10.1161/CIRCRESAHA.117.311302DOI Listing
July 2018

Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.

Neurobiol Dis 2017 Feb 24;98:52-65. Epub 2016 Nov 24.

Department of Neurology, University of Tennessee Health Science Center, Memphis, TN 38163, USA; Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, TN 38163, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2016.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5283163PMC
February 2017

Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain.

Mov Disord 2016 11 18;31(11):1694-1703. Epub 2016 Aug 18.

Division of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom.

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http://dx.doi.org/10.1002/mds.26738DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5129563PMC
November 2016

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.

J Neurol 2014 Dec 11;261(12):2296-304. Epub 2014 Sep 11.

MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK,

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http://dx.doi.org/10.1007/s00415-014-7488-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495322PMC
December 2014

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion.

Neurobiol Aging 2014 Jul 17;35(7):1779.e5-1779.e13. Epub 2014 Jan 17.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cathays, Cardiff, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.01.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988882PMC
July 2014

Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation.

PLoS One 2013 23;8(8):e73169. Epub 2013 Aug 23.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0073169PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751932PMC
June 2014

The emerging roles of TCF4 in disease and development.

Trends Mol Med 2014 Jun 1;20(6):322-31. Epub 2014 Mar 1.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK. Electronic address:

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http://www.cell.com/trends/molecular-medicine/pdf/S1471-4914
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http://linkinghub.elsevier.com/retrieve/pii/S147149141400012
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http://dx.doi.org/10.1016/j.molmed.2014.01.010DOI Listing
June 2014

Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functions.

Mol Ther 2013 Oct 2;21(10):1832-40. Epub 2013 Jul 2.

McColl-Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, Carolinas Healthcare System, Charlotte, North Carolina, USA.

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http://dx.doi.org/10.1038/mt.2013.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3808132PMC
October 2013

Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.

Hum Mutat 2012 Dec 27;33(12):1676-86. Epub 2012 Jul 27.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1002/humu.22160DOI Listing
December 2012

The dystrophin-glycoprotein complex in brain development and disease.

Trends Neurosci 2012 Aug 23;35(8):487-96. Epub 2012 May 23.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S01662236120005
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http://dx.doi.org/10.1016/j.tins.2012.04.004DOI Listing
August 2012

Recent advances in the genetics of the ALS-FTLD complex.

Curr Neurol Neurosci Rep 2012 Jun;12(3):243-50

MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1007/s11910-012-0268-5DOI Listing
June 2012

A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.

Hum Mutat 2011 Nov 15;32(11):1246-58. Epub 2011 Sep 15.

Department of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Heath Park, Cardiff, UK.

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http://dx.doi.org/10.1002/humu.21561DOI Listing
November 2011

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Neuron 2011 Oct 21;72(2):257-68. Epub 2011 Sep 21.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200438PMC
October 2011

Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review.

Mov Disord 2011 Aug 28;26(10):1939-42. Epub 2011 Jun 28.

MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff, United Kingdom.

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http://dx.doi.org/10.1002/mds.23791DOI Listing
August 2011

Synaptic dysbindin-1 reductions in schizophrenia occur in an isoform-specific manner indicating their subsynaptic location.

PLoS One 2011 Mar 1;6(3):e16886. Epub 2011 Mar 1.

Department of Psychiatry, Center for Neurobiology and Behavior, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0016886PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3046962PMC
March 2011

Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.

Hum Mol Genet 2010 Oct 30;19(20):3995-4006. Epub 2010 Jul 30.

McColl-Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular/ALS Center, Carolinas Medical Center, Charlotte, NC 28231, USA.

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http://dx.doi.org/10.1093/hmg/ddq314DOI Listing
October 2010

TCF4, schizophrenia, and Pitt-Hopkins Syndrome.

Schizophr Bull 2010 May 26;36(3):443-7. Epub 2010 Apr 26.

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.

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http://dx.doi.org/10.1093/schbul/sbq035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2879683PMC
May 2010

Mutations alter secretion of fukutin-related protein.

Biochim Biophys Acta 2010 Feb 10;1802(2):253-8. Epub 2009 Nov 10.

McColl-Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular/ALS Center, Carolinas Medical Center, 1000 Blythe Blvd. Charlotte, NC 28231, USA.

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http://dx.doi.org/10.1016/j.bbadis.2009.10.016DOI Listing
February 2010

Dysbindin-1 in dorsolateral prefrontal cortex of schizophrenia cases is reduced in an isoform-specific manner unrelated to dysbindin-1 mRNA expression.

Hum Mol Genet 2009 Oct 19;18(20):3851-63. Epub 2009 Jul 19.

Center for Neurobiology and Behavior in the Department of Psychiatry, University of Pennsylvania, Philadelphia, 19104-3403, USA.

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http://dx.doi.org/10.1093/hmg/ddp329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2748893PMC
October 2009

Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.

Hum Mutat 2009 Sep;30(9):E831-44

Departments of Clinical Sciences and Neurology Karolinska Institutet Danderyds Hospital, Division of Rehabilitation Medicine, Stockholm, Sweden.

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http://dx.doi.org/10.1002/humu.21063DOI Listing
September 2009

TRIM32 is an E3 ubiquitin ligase for dysbindin.

Hum Mol Genet 2009 Jul 6;18(13):2344-58. Epub 2009 Apr 6.

Department of Psychological Medicine, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1093/hmg/ddp167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694686PMC
July 2009

The neurobiology of the dystrophin-associated glycoprotein complex.

Ann Med 2009 ;41(5):344-59

Department of Psychological Medicine, Cardiff University, Heath Park, Cardiff, UK.

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http://dx.doi.org/10.1080/07853890802668522DOI Listing
June 2009

Patenting human genes and stem cells.

Recent Pat DNA Gene Seq 2007 ;1(1):25-34

Stem Cell Research Laboratory, NHS Blood and Transplant, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK.

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February 2009

Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.

Muscle Nerve 2007 Oct;36(4):455-65

McColl Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular/ALS Center, Carolinas Medical Center, Charlotte, NC 28231, USA.

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http://dx.doi.org/10.1002/mus.20833DOI Listing
October 2007

Dystroglycan regulates structure, proliferation and differentiation of neuroepithelial cells in the developing vertebrate CNS.

Dev Biol 2007 Jul 24;307(1):62-78. Epub 2007 Apr 24.

Department of Physiological Chemistry, University of Mainz, Duesbergweg 6, D-55099 Mainz, Germany.

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http://dx.doi.org/10.1016/j.ydbio.2007.04.020DOI Listing
July 2007

Glycosylation defects and muscular dystrophy.

Adv Exp Med Biol 2005 ;564:97-8

Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, UK.

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http://link.springer.com/10.1007/0-387-25515-X_15
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http://dx.doi.org/10.1007/0-387-25515-X_15DOI Listing
February 2006

Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.

Hum Mol Genet 2005 Jan 1;14(2):295-305. Epub 2004 Dec 1.

Department of Pharmacology, University of Oxford, UK.

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http://dx.doi.org/10.1093/hmg/ddi026DOI Listing
January 2005

Differential spatio-temporal expression of alpha-dystrobrevin-1 during mouse development.

Gene Expr Patterns 2004 Sep;4(5):583-93

Molecular Medicine Group, Institute of Biomedical and Biomolecular Sciences, School of Pharmacy and Biomedical Sciences, St Michael's Building, White Swan Road, Portsmouth PO1 2DT, UK.

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http://dx.doi.org/10.1016/j.modgep.2004.01.015DOI Listing
September 2004

Schizophrenia genetics: dysbindin under the microscope.

Trends Neurosci 2004 Sep;27(9):516-9

Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.

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http://dx.doi.org/10.1016/j.tins.2004.06.004DOI Listing
September 2004

Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia.

J Clin Invest 2004 May;113(9):1353-63

Department of Psychiatry (Center for Neurobiology and Behavior), University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-6140, USA.

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http://dx.doi.org/10.1172/JCI20425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC398430PMC
May 2004

Myospryn is a novel binding partner for dysbindin in muscle.

J Biol Chem 2004 Mar 19;279(11):10450-8. Epub 2003 Dec 19.

Department of Pharmacology, University of Oxford, United Kingdom.

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http://dx.doi.org/10.1074/jbc.M312664200DOI Listing
March 2004

The effects of post-translational processing on dystroglycan synthesis and trafficking.

FEBS Lett 2003 Dec;555(2):209-16

Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.

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http://dx.doi.org/10.1016/s0014-5793(03)01230-4DOI Listing
December 2003

The adenosine A2A receptor interacts with the actin-binding protein alpha-actinin.

J Biol Chem 2003 Sep 1;278(39):37545-52. Epub 2003 Jul 1.

Department of Biochemistry and Molecular Biology, University of Barcelona, 08028 Barcelona, Spain.

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http://dx.doi.org/10.1074/jbc.M302809200DOI Listing
September 2003

Abnormal dysbindin expression in cerebellar mossy fiber synapses in the mdx mouse model of Duchenne muscular dystrophy.

J Neurosci 2003 Jul;23(16):6576-85

Department of Cell Biology and Anatomy, and Genes and Development Research Group, Faculty of Medicine, The University of Calgary, Calgary, Alberta T2N 4N1, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6740624PMC
July 2003

Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

Ann Neurol 2003 Apr;53(4):537-42

Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, United Kingdom.

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http://dx.doi.org/10.1002/ana.10559DOI Listing
April 2003

Protein glycosylation in disease: new insights into the congenital muscular dystrophies.

Trends Pharmacol Sci 2003 Apr;24(4):178-83

Stem Cell Laboratory, National Blood Service, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S016561470300050
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http://dx.doi.org/10.1016/S0165-6147(03)00050-6DOI Listing
April 2003

Defective glycosylation in muscular dystrophy.

Lancet 2002 Nov;360(9343):1419-21

The Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, W12 0NN, London, UK.

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http://dx.doi.org/10.1016/S0140-6736(02)11397-3DOI Listing
November 2002

Dystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy?

Authors:
Derek J Blake

Neuromuscul Disord 2002 Oct;12 Suppl 1:S110-7

Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.

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October 2002

Intermediate filaments and the function of the dystrophin-protein complex.

Trends Cardiovasc Med 2002 Jul;12(5):224-8

Department of Phrmacology, University of Oxford, Oxford, United Kingdom.

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July 2002

Function and genetics of dystrophin and dystrophin-related proteins in muscle.

Physiol Rev 2002 Apr;82(2):291-329

Medical Research Council, Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, Oxford, United Kingdom.

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http://dx.doi.org/10.1152/physrev.00028.2001DOI Listing
April 2002