D. Blake

发表

The emerging roles of TCF4 in disease and development.

M. Hill, A. Quantock, M. Forrest, 2014, Trends in molecular medicine.

2.2 Dysbindin-1 and Its Protein Family Special Attention to the Potential Role of Dysbindin-1 in Neuronal

S. Arnold, K. Talbot, D. Blake, 2009 .

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

Andrew P. Weir, K. Davies, D. Blake, 2002, Physiological reviews.

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

David Heckerman, Lorne Zinman, Joanne Wuu, 2011, Neuron.

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

Raquel E Gur, John Q Trojanowski, Chang-Gyu Hahn, 2004, The Journal of clinical investigation.

PDZ Domains: Targeting signalling molecules to sub‐membranous sites

C P Ponting, C. Ponting, K. Davies, 1997, BioEssays : news and reviews in molecular, cellular and developmental biology.

Functional requirements for fukutin-related protein in the Golgi apparatus.

Susan C. Brown, F. Muntoni, C. Esapa, 2002, Human molecular genetics.

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

D. Górecki, D. Blake, Christina Vlachouli, 2004, Gene expression patterns : GEP.

Alternative splicing of dystrobrevin regulates the stoichiometry of syntrophin binding to the dystrophin protein complex

C. Ponting, K. Davies, D. Blake, 2000, Current Biology.

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

E. Martin-Rendon, D. Blake, E. Martin‐Rendon, 2003, Trends in pharmacological sciences.

Novel transcribed sequences represented in the complex genomic region 5q13.

K. Davies, A. Brookes, D. Porteous, 1996, Biochimica et biophysica acta.

Psychiatric disorders, myoclonus dystonia, and the epsilon‐sarcoglycan gene: A systematic review

M. Owen, H. Morris, D. Blake, 2011, Movement disorders : official journal of the Movement Disorder Society.

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

M. Gyöngyösi, P. Haller, D. Blake, 2018, Circulation research.

Defective glycosylation in muscular dystrophy

Susan C. Brown, F. Muntoni, D. Blake, 2002, The Lancet.

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

Xiao Xiao, Peijuan Lu, Q. Lu, 2013, Molecular therapy : the journal of the American Society of Gene Therapy.

Phenotypic spectrum associated with mutations in the fukutin‐related protein gene

Susan C. Brown, E. Mercuri, F. Muntoni, 2003, Annals of neurology.

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts

Susan C. Brown, F. Muntoni, H. Topaloglu, 2003, Neurology.

The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I

Susan C. Brown, F. Muntoni, D. Blake, 2002, Neuromuscular Disorders.

Characterization and organization of the genes encoding the A-, B- and C-chains of human complement subcomponent C1q. The complete derived amino acid sequence of human C1q.

D. Blake, G. Sellar, K. Reid, 1991, The Biochemical journal.

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

G. Kirov, M. Owen, M. Samuel, 2014, Journal of Neurology.

TRIM32 is an E3 ubiquitin ligase for dysbindin

D. Blake, C. Tinsley, M. Benson, 2009, Human molecular genetics.

Recent Advances in the Genetics of the ALS-FTLD Complex

N. Williams, H. Morris, D. Blake, 2012, Current Neurology and Neuroscience Reports.

Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site.

K. Davies, D. Blake, J. Tinsley, 1993, Human molecular genetics.

A Novel Mechanism for Modulating Synaptic Gene Expression: Differential Localization of α-Dystrobrevin Transcripts in Skeletal Muscle

K. Davies, A. Gramolini, D. Blake, 2001, Molecular and Cellular Neuroscience.

Dysbindin-1 and Its Protein Family

S. Arnold, K. Talbot, G. Carlson, 2009 .

Utrophin mRNA Expression in Muscle Is Not Restricted to the Neuromuscular Junction

K. Davies, R. Vater, S. Lindsay, 1998, Molecular and Cellular Neuroscience.

Mutations alter secretion of fukutin-related protein.

Peijuan Lu, Q. Lu, D. Blake, 2010, Biochimica et biophysica acta.

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

Raymond D. Schellevis, L. H. van den Berg, J. Veldink, 2015, Annals of neurology.

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

H. Morris, D. Blake, J. Neal, 2014, Neurobiology of Aging.

C. Esapa, Peijuan Lu, Q. Lu, 2007, Muscle & nerve.

CMYA5 is a novel interaction partner of FHL2 in cardiac myocytes

G. Baillie, E. Ehler, V. Wixler, 2022, The FEBS journal.

mice prevents the occurrence of muscle degeneration mdx Hindlimb immobilization applied to 21-day-old

Andrew P. Weir, K. Davies, J. Lefaucheur, 2015 .

Assembly of multiple dystrobrevin-containing complexes in the kidney.

K. Davies, N. Loh, D. Blake, 2000, Journal of cell science.

Utrophin, the autosomal homologue of dystrophin, is widely‐expressed and membrane‐associated in cultured cell lines

K. Davies, D. Blake, G. Morris, 1992, FEBS letters.

Dysregulation of Specialized Delay/Interference-Dependent Working Memory Following Loss of Dysbindin-1A in Schizophrenia-Related Phenotypes

J. Waddington, J. Kew, D. Henshall, 2017, Neuropsychopharmacology.

The effects of post‐translational processing on dystroglycan synthesis and trafficking 1

C. Esapa, D. Blake, S. Kröger, 2003, FEBS letters.

The genetic basis of neuromuscular disorders.

K. Davies, D. Blake, R. Nawrotzki, 1996, Trends in genetics : TIG.

beta-dystrobrevin, a member of the dystrophin-related protein family.

K. Davies, N. Loh, D. Górecki, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Characterisation of alpha-dystrobrevin in muscle.

K. Davies, M. Ruegg, N. Loh, 1998, Journal of cell science.

Characterisation of α-dystrobrevin in muscle

K. Davies, N. Loh, M. Rüegg, 1998 .

Utrophin: A Structural and Functional Comparison to Dystrophin

D. Blake, J. Tinsley, K. Davies, 1996, Brain pathology.

G-utrophin, the autosomal homologue of dystrophin Dp116, is expressed in sensory ganglia and brain.

K. Davies, E. Barnard, D. Górecki, 1995, Proceedings of the National Academy of Sciences of the United States of America.

Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells.

K. Davies, G. Dickson, H. Turley, 1992, Human molecular genetics.

Primary structure of dystrophin-related protein

K. Davies, J. Riss, A. Knight, 1992, Nature.

Completion of the detailed restriction map of the E. coli genome by the isolation of overlapping cosmid clones.

D. Blake, G. Brownlee, V. Knott, 1989, Nucleic acids research.

Role of β-Dystrobrevin in Nonmuscle Dystrophin-Associated Protein Complex-Like Complexes in Kidney and Liver

N. Loh, D. Blake, Daniela Nebenius-Oosthuizen, 2001, Molecular and Cellular Biology.

Genomic organization and refined mapping of the mouse β-dystrobrevin gene

K. Davies, L. Guay-Woodford, N. Loh, 1998, Mammalian Genome.

Genomic organization and refined mapping of the mouse beta-dystrobrevin gene.

K. Davies, L. Guay-Woodford, N. Loh, 1998, Mammalian genome : official journal of the International Mammalian Genome Society.

Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy.

K. Davies, L. Metzinger, D. Blake, 1997, Human molecular genetics.

Apo-dystrophin-1 and apo-dystrophin-2, products of the Duchenne muscular dystrophy locus: expression during mouse embryogenesis and in cultured cell lines.

K. Davies, D. Blake, G. Morris, 1994, Human molecular genetics.

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

Hanns Lochmüller, B. Schoser, K. Borg, 2009, Human mutation.

Dysbindin, a Novel Coiled-coil-containing Protein That Interacts with the Dystrobrevins in Muscle and Brain*

D. Blake, S. Newey, R. Hawkes, 2001, The Journal of Biological Chemistry.

The Adenosine A2A Receptor Interacts with the Actin-binding Protein α-Actinin*

F. Ciruela, J. Mallol, C. Lluis, 2003, Journal of Biological Chemistry.

Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients.

D. Birnbaum, D. Blake, G. Brownlee, 1988, The EMBO journal.

Different Dystrophin-like Complexes Are Expressed in Neurons and Glia

Derek J. Blake, D. Blake, R. Hawkes, 1999, The Journal of cell biology.

Dystrophin and beta‐dystroglycan in photoreceptor terminals from normal and mdx3Cv mouse retinae

P. Koulen, D. Blake, S. Kröger, 1999, The European journal of neuroscience.

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

Naoki Oiso, Richard A Spritz, Edward P O'Brien, 2003, Nature Genetics.

Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy

E. Wieben, N. Koizumi, U. Schlötzer-Schrehardt, 2019, Investigative ophthalmology & visual science.

Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy

Takahiko, E. Wieben, N. Koizumi, 2019, Investigative ophthalmology & visual science.

SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.

C. Esapa, R. Sillitoe, D. Blake, 2007, Human molecular genetics.

Myospryn Is a Novel Binding Partner for Dysbindin in Muscle*

D. Blake, C. Tinsley, M. Benson, 2004, Journal of Biological Chemistry.

Synaptic protein DLG2 controls neurogenic transcriptional programs disrupted in schizophrenia and related disorders

M. Owen, A. Pocklington, Daniel J. Whitcomb, 2020 .

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

M. Owen, M. O’Donovan, M. Hill, 2018, Schizophrenia bulletin.

Genetic and physical mapping around the properdin P gene.

H. Willard, K. Davies, A. Wright, 1991, Genomics.

ZZ and TAZ: new putative zinc fingers in dystrophin and other proteins.

C. Ponting, K. Davies, S. Winder, 1996, Trends in biochemical sciences.

Predicting the Evolution, Structure and Function of Proteins from Sequence Information

C. Ponting, D. Blake, 1997 .

Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants

M. Owen, M. O’Donovan, A. Pocklington, 2022, Nature Communications.

DLG2 knockout reveals neurogenic transcriptional programs underlying neuropsychiatric disorders and cognition

M. Owen, M. O’Donovan, A. Pocklington, 2020, bioRxiv.

Two polymorphic dinucleotide repeats in the rat dystrophin gene, including the conserved 3′ UTR repeat

A. Monaco, D. Gauguier, D. Blake, 1995, Mammalian Genome.

The dystrophin–glycoprotein complex in brain development and disease

Susan C. Brown, D. Blake, A. Waite, 2012, Trends in Neurosciences.

The neurobiology of the dystrophin-associated glycoprotein complex

D. Blake, A. Waite, C. Tinsley, 2009, Annals of medicine.

Patenting human genes and stem cells.

D. Blake, E. Martin‐Rendon, 2007, Recent patents on DNA & gene sequences.

Abnormal Dysbindin Expression in Cerebellar Mossy Fiber Synapses in the mdx Mouse Model of Duchenne Muscular Dystrophy

Richard Hawkes, Roy V Sillitoe, R. Hawkes, 2003, The Journal of Neuroscience.

Transcriptional Changes following Cellular Knockdown of the Schizophrenia Risk Gene SETD1A Are Enriched for Common Variant Association with the Disorder

M. Hill, N. Bray, Darren Cameron, 2019, Molecular Neuropsychiatry.

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

M. Hill, K. Tansey, D. Kavanagh, 2017, Schizophrenia bulletin.

Association of Transcription Factor 4 (TCF4) variants with schizophrenia and intellectual disability

M. Hill, M. Forrest, D. Blake, 2014, Current Behavioral Neuroscience Reports.

Knockdown of Human TCF4 Affects Multiple Signaling Pathways Involved in Cell Survival, Epithelial to Mesenchymal Transition and Neuronal Differentiation

M. Forrest, D. Blake, A. Waite, 2013, PloS one.

TCF4, schizophrenia, and Pitt-Hopkins Syndrome.

M. Owen, M. O’Donovan, M. Forrest, 2010, Schizophrenia bulletin.

Functional analysis of TCF4 missense mutations that cause Pitt–Hopkins syndrome

M. Forrest, D. Blake, R. Chapman, 2012, Human mutation.

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

D. Blake, E. Martin‐Rendon, 2002, Trends in cardiovascular medicine.

The neurobiology of Duchenne muscular dystrophy: learning lessons from muscle?

D. Blake, S. Kröger, 2000, Trends in Neurosciences.

SCHIZOPHRENIA TCF 4 , Schizophrenia , and Pitt-Hopkins Syndrome

M. Owen, M. O’Donovan, M. Forrest, 2010 .

Genomic organization of the mouse dystrobrevin gene: comparative analysis with the dystrophin gene.

K. Davies, D. Blake, R. Nawrotzki, 1997, Genomics.

Coiled-coil regions in the carboxy-terminal domains of dystrophin and related proteins: potentials for protein-protein interactions.

K. Davies, S. Winder, A. Knight, 1995, Trends in biochemical sciences.

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

D. Higgs, R. Gibbons, D. Blake, 1996, Human molecular genetics.

Schizophrenia genetics: dysbindin under the microscope

R. Sillitoe, D. Blake, M. Benson, 2004, Trends in Neurosciences.

Syncoilin, a Novel Member of the Intermediate Filament Superfamily That Interacts with α-Dystrobrevin in Skeletal Muscle*

C. Ponting, N. Loh, D. Blake, 2001, The Journal of Biological Chemistry.

Molecular Analysis of Duchenne Muscular Dystrophy: Past, Present, and Future a

K. Davies, D. Blake, J. Tinsley, 1995, Annals of the New York Academy of Sciences.

Dystrophin and dystrophin-related proteins: A review of protein and RNA studies

K. Davies, D. Blake, D. Love, 1993, Neuromuscular Disorders.

Dystrophin and related proteins.

K. Davies, A. Knight, D. Blake, 1993, Current opinion in genetics & development.

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

F. Ciruela, J. Mallol, C. Lluis, 2003, The Journal of biological chemistry.

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Susan C. Brown, C. Ponting, E. Mercuri, 2001, American journal of human genetics.

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Susan C. Brown, J. Burgunder, K. Bushby, 2001, Human molecular genetics.

A member of the MAP kinase phosphatase gene family in mouse containing a complex trinucleotide repeat in the coding region.

A. Ashworth, K. Davies, M. Leversha, 1996, Human molecular genetics.

Ryanodine receptors are part of the myospryn complex in cardiac muscle

E. Ehler, D. Blake, S. Sweet, 2017, Scientific Reports.

C. Esapa, D. Blake, R. McIlhinney, 2005, Human molecular genetics.

SGCE mutations cause psychiatric disorders: clinical and genetic characterization.

G. Kirov, M. Owen, Danny J. Smith, 2013, Brain : a journal of neurology.

Isoform Diversity of Dystrobrevin, the Murine 87-kDa Postsynaptic Protein (*)

M. F. Peters, D. Blake, S. Froehner, 1996, The Journal of Biological Chemistry.

Potency of Human Cardiosphere‐Derived Cells from Patients with Ischemic Heart Disease Is Associated with Robust Vascular Supportive Ability

M. Frontini, D. Castellano, P. Sepúlveda, 2017, Stem cells translational medicine.

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

D. Blake, A. Waite, Y. Chan, 2016, Movement disorders : official journal of the Movement Disorder Society.

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

S. Arnold, C. Hahn, K. Talbot, 2009, Human molecular genetics.

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

S. Arnold, C. Hahn, K. Talbot, 2009 .

Synaptic Dysbindin-1 Reductions in Schizophrenia Occur in an Isoform-Specific Manner Indicating Their Subsynaptic Location

S. Arnold, K. Talbot, D. Blake, 2011, PloS one.

Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin.

Chang-Gyu Hahn, S. Arnold, Li-ying Han, 2006, Human molecular genetics.

7 Dystrobrevin deficiency at the sarcolemma of patients with muscular

L. Metzinger, D. Blake, R. Nawrotzki, 1997 .

Liver Complex-Like Complexes in Kidney and Dystrophin-Associated Protein -Dystrobrevin in Nonmuscle β Role of

K. Davies, N. Loh, D. Blake, 2014 .

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

D. Blake, 2002, Neuromuscular Disorders.

Role of (cid:2) -Dystrobrevin in Nonmuscle Dystrophin-Associated Protein Complex-Like Complexes in Kidney and Liver

N. Loh, D. Blake, Daniela Nebenius-Oosthuizen, 2001 .

Tissue-selective Expression of α-Dystrobrevin Is Determined by Multiple Promoters*

D. Blake, S. Newey, R. Nawrotzki, 1999, The Journal of Biological Chemistry.

Molecular diversity of the dystrophin-like protein complex in the developing and adult avian retina

M. Blank, D. Blake, S. Kröger, 2002, Neuroscience.

Increasing complexity of the dystrophin-associated protein complex.

K. Davies, D. Blake, D J Blake, 1994, Proceedings of the National Academy of Sciences of the United States of America.

The emerging family of dystrophin-related proteins.

K. Davies, D. Blake, J. Tinsley, 1994, Trends in cell biology.

Dystroglycan mRNA expression during normal and mdx mouse embryogenesis: A comparison with utrophin and the apo‐dystrophins

D. Górecki, D. Blake, Y. Edwards, 1995, Developmental dynamics : an official publication of the American Association of Anatomists.

H. Lidov, H. Gruber, N. Zinchenko, 2010, Human molecular genetics.

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

M. Blank, C. Esapa, D. Blake, 2007, Developmental biology.

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

M. LeDoux, Yu Zhao, M. Khan, 2017, Neurobiology of Disease.

SGCZ mutations are unlikely to be associated with myoclonus dystonia

F. Baas, M. Tijssen, J. Groen, 2014, Neuroscience.

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

D. Blake, A. Brancaccio, A. Waite, 2011, Human mutation.

No muscle involvement in myoclonus‐dystonia caused by ɛ‐sarcoglycan gene mutations

F. Asmus, H. Lochmüller, J. Vissing, 2008, European journal of neurology.

The utrophin and dystrophin genes share similarities in genomic structure.

A. Monaco, K. Davies, D. Blake, 1993, Human molecular genetics.

Acetylcholine receptors are required for agrin‐induced clustering of postsynaptic proteins

D. Blake, C. Fuhrer, J. Forsayeth, 2001, The EMBO journal.

Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia

K. Lohmann, C. Klein, D. Blake, 2017, Scientific Reports.

Isoform-Specific Reduction of the Basic Helix-Loop-Helix Transcription Factor TCF4 Levels in Huntington’s Disease

D. Blake, T. Timmusk, E. Pérez-Navarro, 2021, eNeuro.

A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders

T. Révész, J. Rohrer, J. Holton, 2019, Cold Spring Harbor molecular case studies.

Behavioral / Systems / Cognitive Abnormal Dysbindin Expression in Cerebellar Mossy Fiber Synapses in the mdx Mouse Model of Duchenne Muscular Dystrophy

R. Hawkes, R. Sillitoe, D. Blake, 2023 .

Long‐term efficacy and mortality in Parkinson's disease patients treated with subthalamic stimulation

G. K. Røste, E. Dietrichs, V. Gundersen, 2011, Movement disorders : official journal of the Movement Disorder Society.

The neurobiology of the dystrophin-associated glycoprotein complex

D. Blake, A. Waite, C. Tinsley, 2009, Annals of medicine.

Different Dystrophin-like Complexes Are Expressed in Neurons and Glia

D. Blake, R. Hawkes, Matthew A. Benson, 1999, The Journal of cell biology.