FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Derek Blake

Research Profile

Chemicals & Drugs

Disorders

Muscular Dystrophies

Living Beings

Concepts & Ideas

Molecular Sequence Data

Genes & Molecular Sequences

Amino Acid Sequences

Anatomy

Physiology

Mutation

Co-author Network

Publications

TOP 3
Marc Forrest; Caroline L Tinsley; Adrian Waite; Ria M Chapman; A Michelle Doyle; Derek J Blake
Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.
Adrian Waite; Susan C Brown; Derek J Blake
The dystrophin-glycoprotein complex in brain development and disease.
Adrian Waite; Andrea Brancaccio; Maria Cristina De Rosa; Derek J Blake
A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Derek Blake (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2012: Marc Forrest; Caroline L Tinsley; Adrian Waite; Ria M Chapman; A Michelle Doyle; Derek J Blake
Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.
Human mutation 2012;33(12):1676-86.
2012: Adrian Waite; Susan C Brown; Derek J Blake
The dystrophin-glycoprotein complex in brain development and disease.
Trends in neurosciences 2012;35(8):487-96.
2011: Adrian Waite; Andrea Brancaccio; Maria Cristina De Rosa; Derek J Blake
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 2011;32(11):1246-58.
2011: Konrad Talbot; Natalia Louneva; Julia W Cohen; Hala Kazi; Derek J Blake; Steven E Arnold
Synaptic dysbindin-1 reductions in schizophrenia occur in an isoform-specific manner indicating their subsynaptic location.
PloS one 2011;6(3):e16886.
2009: Junxia Tang; Robert P LeGros; Natalia Louneva; Lilly Yeh; Julia W Cohen; Chang-Gyu Hahn; Derek J Blake; Steven E Arnold; Konrad Talbot
Dysbindin-1 in dorsolateral prefrontal cortex of schizophrenia cases is reduced in an isoform-specific manner unrelated to dysbindin-1 mRNA expression.
Human molecular genetics 2009;18(20):3851-63.
2007: Elizabeth Keramaris-Vrantsis; Pei J Lu; Timothy Doran; Allen Zillmer; Jignya Ashar; Christopher T Esapa; Matthew A Benson; Derek J Blake; Jeffrey Rosenfeld; Qi-Long Lu
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.
Muscle & nerve 2007;36(4):455-65.
2007: Jörn E Schröder; Marion R Tegeler; Uli Grosshans; Elmar Porten; Martina Blank; Jun Lee; Christopher T Esapa; Derek J Blake; Stephan Kröger
Dystroglycan regulates structure, proliferation and differentiation of neuroepithelial cells in the developing vertebrate CNS.
Developmental biology 2007;307(1):62-78.
2007: Christopher T Esapa; Adrian Waite; Matthew Locke; Matthew A Benson; Michaela Kraus; R A Jeffrey McIlhinney; Roy Sillitoe; Philip W Beesley; Derek J Blake
SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.
Human molecular genetics 2007;16(3):327-42.
2006: Konrad Talbot; Dan-Sung Cho; Wei-Yi Ong; Matthew A Benson; Li-Ying Han; Hala A Kazi; Joshua Kamins; Chang-Gyu Hahn; Derek J Blake; Steven E Arnold
Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin.
Human molecular genetics 2006;15(20):3041-54.
2005: Christopher T Esapa; R A Jeffrey McIlhinney; Derek J Blake
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
Human molecular genetics 2005;14(2):295-305.
2005: Derek J Blake; Christopher T Esapa; Enca Martin-Rendon; R A Jeffrey McIlhinney
Glycosylation defects and muscular dystrophy.
Advances in experimental medicine and biology 2005;564():97-8.
2004: Matthew A Benson; Roy Sillitoe; Derek J Blake
Schizophrenia genetics: dysbindin under the microscope.
Trends in neurosciences 2004;27(9):516-9.
2004: Chun Fu Lien; Christina Vlachouli; Derek J Blake; J Paul Simons; Dariusz C Górecki
Differential spatio-temporal expression of alpha-dystrobrevin-1 during mouse development.
Gene expression patterns : GEP 2004;4(5):583-93.
2004: Konrad Talbot; Wess L Eidem; Caroline L Tinsley; Matthew A Benson; Edward W Thompson; Rachel J Smith; Chang-Gyu Hahn; Steven J Siegel; John Q Trojanowski; Raquel E Gur; Derek J Blake; Steven E Arnold
Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia.
The Journal of clinical investigation 2004;113(9):1353-63.
2004: Matthew A Benson; Caroline L Tinsley; Derek J Blake
Myospryn is a novel binding partner for dysbindin in muscle.
The Journal of biological chemistry 2004;279(11):10450-8.
2003: Christopher T Esapa; Graham R B Bentham; Jörn E Schröder; Stephan Kröger; Derek J Blake
The effects of post-translational processing on dystroglycan synthesis and trafficking.
FEBS letters 2003;555(2):209-16.
2003: Javier Burgueño; Derek J Blake; Matthew A Benson; Caroline L Tinsley; Christopher T Esapa; Enric Isidre Canela; Petronila Penela; Josefa Mallol; Federico Mayor; Carmen Lluis; Rafael Franco; Francisco Ciruela
The adenosine A2A receptor interacts with the actin-binding protein alpha-actinin.
The Journal of biological chemistry 2003;278(39):37545-52.
2003: Wei Li; Qing Zhang; Naoki Oiso; Edward K Novak; Rashi Gautam; Edward P O'Brien; Caroline L Tinsley; Derek J Blake; Richard A Spritz; Neal G Copeland; Nancy A Jenkins; Dominick Amato; Bruce A Roe; Marta Starcevic; Esteban C Dell'Angelica; Rosemary W Elliott; Vishnu Mishra; Stephen Kingsmore; Richard Paylor; Richard T Swank
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
Nature genetics 2003;35(1):84-9.
2003: Roy Sillitoe; Matthew A Benson; Derek J Blake; Richard Hawkes
Abnormal dysbindin expression in cerebellar mossy fiber synapses in the mdx mouse model of Duchenne muscular dystrophy.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2003;23(16):6576-85.
2003: Enca Martin-Rendon; Derek J Blake
Protein glycosylation in disease: new insights into the congenital muscular dystrophies.
Trends in pharmacological sciences 2003;24(4):178-83.
2003: Eugenio Mercuri; Martin Brockington; Volker Straub; Susana Quijano-Roy; Yeliz Yuva; Ralf Herrmann; Susan C Brown; Silvia Torelli; Victor Dubowitz; Derek J Blake; Norma B Romero; Brigitte Estournet; Caroline A Sewry; Pascale Guicheney; Thomas Voit; Francesco Muntoni
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Annals of neurology 2003;53(4):537-42.
2002: Christopher T Esapa; Matthew A Benson; Jörn E Schröder; Enca Martin-Rendon; Martin Brockington; Susan C Brown; Francesco Muntoni; Stephan Kröger; Derek J Blake
Functional requirements for fukutin-related protein in the Golgi apparatus.
Human molecular genetics 2002;11(26):3319-31.
2002: Francesco Muntoni; Martin Brockington; Derek J Blake; Silvia Torelli; Susan C Brown
Defective glycosylation in muscular dystrophy.
Lancet 2002;360(9343):1419-21.
2002: Derek J Blake
Dystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy?
Neuromuscular disorders : NMD 2002;12 Suppl 1():S110-7.
2002: Derek J Blake; Enca Martin-Rendon
Intermediate filaments and the function of the dystrophin-protein complex.
Trends in cardiovascular medicine 2002;12(5):224-8.
2002: Derek J Blake; Andrew P Weir; Sarah E Newey; Kay E Davies
Function and genetics of dystrophin and dystrophin-related proteins in muscle.
Physiological reviews 2002;82(2):291-329.
2002: Martin Brockington; Derek J Blake; Susan C Brown; Francesco Muntoni
The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I.
Neuromuscular disorders : NMD 2002;12(3):233-4.
2002: Martina Blank; Derek J Blake; Stephan Kröger
Molecular diversity of the dystrophin-like protein complex in the developing and adult avian retina.
Neuroscience 2002;111(2):259-73.
2001: Martin Brockington; Yeliz Yuva; Paola Prandini; Susan C Brown; Silvia Torelli; Matthew A Benson; Ralf Herrmann; Louise V B Anderson; Rumaisa Bashir; Jean-Marc Burgunder; S Fallet; Norma B Romero; M Fardeau; Volker Straub; G Storey; C Pollitt; Isabelle Richard; Caroline A Sewry; Kate Bushby; Thomas Voit; Derek J Blake; Francesco Muntoni
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
Human molecular genetics 2001;10(25):2851-9.
2001: Martin Brockington; Derek J Blake; Paola Prandini; Susan C Brown; Silvia Torelli; Matthew A Benson; Chris P Ponting; Brigitte Estournet; Norma B Romero; Eugenio Mercuri; Thomas Voit; Caroline A Sewry; Pascale Guicheney; Francesco Muntoni
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.
American journal of human genetics 2001;69(6):1198-209.
2001: Nellie Y Loh; D Nebenius-Oosthuizen; Derek J Blake; A J Smith; Kay E Davies
Role of beta-dystrobrevin in nonmuscle dystrophin-associated protein complex-like complexes in kidney and liver.
Molecular and cellular biology 2001;21(21):7442-8.
2001: Matthew A Benson; Sarah E Newey; Enca Martin-Rendon; Richard Hawkes; Derek J Blake
Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain.
The Journal of biological chemistry 2001;276(26):24232-41.
2001: Sarah E Newey; Emily V Howman; Chris P Ponting; Matthew A Benson; RA Nawrotzki; Nellie Y Loh; Kay E Davies; Derek J Blake
Syncoilin, a novel member of the intermediate filament superfamily that interacts with alpha-dystrobrevin in skeletal muscle.
The Journal of biological chemistry 2001;276(9):6645-55.
2001: Sarah E Newey; Anthony O Gramolini; J Wu; PJ Holzfeind; Bernard J Jasmin; Kay E Davies; Derek J Blake
A novel mechanism for modulating synaptic gene expression: differential localization of alpha-dystrobrevin transcripts in skeletal muscle.
Molecular and cellular neurosciences 2001;17(1):127-40.
2000: Sarah E Newey; Matthew A Benson; Chris P Ponting; Kay E Davies; Derek J Blake
Alternative splicing of dystrobrevin regulates the stoichiometry of syntrophin binding to the dystrophin protein complex.
Current biology : CB 2000;10(20):1295-8.
2000: Nellie Y Loh; Sarah E Newey; Kay E Davies; Derek J Blake
Assembly of multiple dystrobrevin-containing complexes in the kidney.
Journal of cell science 2000;113 ( Pt 15)():2715-24.
2000: Derek J Blake; Stephan Kröger
The neurobiology of duchenne muscular dystrophy: learning lessons from muscle?
Trends in neurosciences 2000;23(3):92-9.
1999: Derek J Blake; Richard Hawkes; Matthew A Benson; Philip W Beesley
Different dystrophin-like complexes are expressed in neurons and glia.
The Journal of cell biology 1999;147(3):645-58.
1999: Martina Blank; Peter Koulen; Derek J Blake; Stephan Kröger
Dystrophin and beta-dystroglycan in photoreceptor terminals from normal and mdx3Cv mouse retinae.
The European journal of neuroscience 1999;11(6):2121-33.
1999: PJ Holzfeind; HJ Ambrose; Sarah E Newey; RA Nawrotzki; Derek J Blake; Kay E Davies
Tissue-selective expression of alpha-dystrobrevin is determined by multiple promoters.
The Journal of biological chemistry 1999;274(10):6250-8.
1998: Nellie Y Loh; HJ Ambrose; Lisa M Guay-Woodford; S DasGupta; RA Nawrotzki; Derek J Blake; Kay E Davies
Genomic organization and refined mapping of the mouse beta-dystrobrevin gene.
Mammalian genome : official journal of the International Mammalian Genome Society 1998;9(11):857-62.
1998: RA Nawrotzki; Nellie Y Loh; M A Ruegg; Kay E Davies; Derek J Blake
Characterisation of alpha-dystrobrevin in muscle.
Journal of cell science 1998;111 ( Pt 17)():2595-605.
1998: R Vater; Carol Young; Louise V B Anderson; S Lindsay; Derek J Blake; Kay E Davies; R Zuellig; Clarke Slater
Utrophin mRNA expression in muscle is not restricted to the neuromuscular junction.
Molecular and cellular neurosciences 1998;10(5-6):229-42.
1998: Derek J Blake; RA Nawrotzki; Nellie Y Loh; Dariusz C Górecki; Kay E Davies
beta-dystrobrevin, a member of the dystrophin-related protein family.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(1):241-6.
1997: L Metzinger; Derek J Blake; MV Squier; Louise V B Anderson; AE Deconinck; RA Nawrotzki; David Hilton-Jones; Kay E Davies
Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy.
Human molecular genetics 1997;6(7):1185-91.
1997: HJ Ambrose; Derek J Blake; RA Nawrotzki; Kay E Davies
Genomic organization of the mouse dystrobrevin gene: comparative analysis with the dystrophin gene.
Genomics 1997;39(3):359-69.
1996: David J Picketts; Douglas R Higgs; S Bachoo; Derek J Blake; O W Quarrell; Richard J Gibbons
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.
Human molecular genetics 1996;5(12):1899-907.
1996: RA Nawrotzki; Derek J Blake; Kay E Davies
The genetic basis of neuromuscular disorders.
Trends in genetics : TIG 1996;12(8):294-8.
1996: A M Theodosiou; NR Rodrigues; M A Nesbit; H J Ambrose; H Paterson; E McLellan-Arnold; Y Boyd; M A Leversha; N Owen; Derek J Blake; Alan Ashworth; Kay E Davies
A member of the MAP kinase phosphatase gene family in mouse containing a complex trinucleotide repeat in the coding region.
Human molecular genetics 1996;5(5):675-84.
1996: Derek J Blake; RA Nawrotzki; MF Peters; Stanley Froehner; Kay E Davies
Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein.
The Journal of biological chemistry 1996;271(13):7802-10.
1996: Derek J Blake; Jon Tinsley; Kay E Davies
Utrophin: a structural and functional comparison to dystrophin.
Brain pathology (Zurich, Switzerland) 1996;6(1):37-47.
1996: C P Ponting; Derek J Blake; Kay E Davies; John Kendrick-Jones; S J Winder
ZZ and TAZ: new putative zinc fingers in dystrophin and other proteins.
Trends in biochemical sciences 1996;21(1):11-13.
1995: J N Schofield; D C Górecki; Derek J Blake; K Davies; Yvonne H Edwards
Dystroglycan mRNA expression during normal and mdx mouse embryogenesis: a comparison with utrophin and the apo-dystrophins.
Developmental dynamics : an official publication of the American Association of Anatomists 1995;204(2):178-85.
1995: I Y Millwood; Derek J Blake; Dominique Gauguier; Anthony P Monaco
Two polymorphic dinucleotide repeats in the rat dystrophin gene, including the conserved 3' UTR repeat.
Mammalian genome : official journal of the International Mammalian Genome Society 1995;6(9):668-9.
1995: Kay E Davies; Jon Tinsley; Derek J Blake
Molecular analysis of Duchenne muscular dystrophy: past, present, and future.
Annals of the New York Academy of Sciences 1995;758():287-96.
1995: Derek J Blake; J N Schofield; R A Zuellig; D C Górecki; S R Phelps; E A Barnard; Yvonne H Edwards; Kay E Davies
G-utrophin, the autosomal homologue of dystrophin Dp116, is expressed in sensory ganglia and brain.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(9):3697-701.
1995: Derek J Blake; Jon Tinsley; Kay E Davies; Alex E Knight; S J Winder; John Kendrick-Jones
Coiled-coil regions in the carboxy-terminal domains of dystrophin and related proteins: potentials for protein-protein interactions.
Trends in biochemical sciences 1995;20(4):133-5.
1994: Jon Tinsley; Derek J Blake; R A Zuellig; Kay E Davies
Increasing complexity of the dystrophin-associated protein complex.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(18):8307-13.
1994: J N Schofield; Derek J Blake; C Simmons; G E Morris; Jon Tinsley; Kay E Davies; Yvonne H Edwards
Apo-dystrophin-1 and apo-dystrophin-2, products of the Duchenne muscular dystrophy locus: expression during mouse embryogenesis and in cultured cell lines.
Human molecular genetics 1994;3(8):1309-16.
1994: Derek J Blake; Jon Tinsley; K E Davies
The emerging family of dystrophin-related proteins.
Trends in cell biology 1994;4(1):19-23.
1993: M Pearce; Derek J Blake; Jon Tinsley; B C Byth; L Campbell; Anthony P Monaco; Kay E Davies
The utrophin and dystrophin genes share similarities in genomic structure.
Human molecular genetics 1993;2(11):1765-72.
1993: Jon Tinsley; Derek J Blake; M Pearce; Alex E Knight; John Kendrick-Jones; Kay E Davies
Dystrophin and related proteins.
Current opinion in genetics & development 1993;3(3):484-90.
1993: Jon Tinsley; Derek J Blake; Kay E Davies
Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site.
Human molecular genetics 1993;2(5):521-4.
1993: Donald R Love; B C Byth; Jon Tinsley; Derek J Blake; Kay E Davies
Dystrophin and dystrophin-related proteins: a review of protein and RNA studies.
Neuromuscular disorders : NMD 1993;3(1):5-21.
1992: Jon Tinsley; Derek J Blake; A Roche; U Fairbrother; Joseph Riss; B C Byth; Alex E Knight; John Kendrick-Jones; G K Suthers; Donald R Love
Primary structure of dystrophin-related protein.
Nature 1992;360(6404):591-3.
1992: Derek J Blake; Donald R Love; Jon Tinsley; G E Morris; Helen Turley; K Gatter; G Dickson; Yvonne H Edwards; Kay E Davies
Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells.
Human molecular genetics 1992;1(2):103-9.
1991: M P Coleman; J C Murray; H F Willard; K F Nolan; K B Reid; Derek J Blake; S Lindsay; S S Bhattacharya; A Wright; Kay E Davies
Genetic and physical mapping around the properdin P gene.
Genomics 1991;11(4):991-6.
1991: G C Sellar; Derek J Blake; Kenneth B M Reid
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.
The Biochemical journal 1991;274 ( Pt 2)():481-90.
1989: V Knott; Derek J Blake; George G Brownlee
Completion of the detailed restriction map of the E. coli genome by the isolation of overlapping cosmid clones.
Nucleic acids research 1989;17(15):5901-12.
1988: D S Anson; Derek J Blake; P R Winship; D Birnbaum; George G Brownlee
Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients.
The EMBO journal 1988;7(9):2795-9.