Derek J. Blake spends much of his time researching Genetics, Duchenne muscular dystrophy, Dystrophin, Utrophin and Muscular dystrophy. Genetics and Charged multivesicular body protein 2B are commonly linked in his work. Derek J. Blake studied Duchenne muscular dystrophy and Cell biology that intersect with Acetylcholine receptor, Cell surface receptor and Membrane-associated guanylate kinase.
ITGA7 is closely connected to Neuromuscular junction in his research, which is encompassed under the umbrella topic of Utrophin. His Muscular dystrophy research includes themes of Dystroglycan and Fukutin-related protein. His study on Dystrophin-associated protein complex also encompasses disciplines like
His primary scientific interests are in Genetics, Dystrophin, Cell biology, Muscular dystrophy and Molecular biology. His Dystrophin research focuses on subjects like Neuroscience, which are linked to Dysbindin. The study incorporates disciplines such as Retina, Acetylcholine receptor and Skeletal muscle in addition to Cell biology.
His biological study spans a wide range of topics, including Dystroglycan and Fukutin-related protein. The concepts of his Molecular biology study are interwoven with issues in Coding region, Peptide sequence and Gene isoform. His research in Utrophin intersects with topics in Regulation of gene expression and Neuromuscular junction.
His main research concerns Genetics, Gene, SGCE, Cell biology and Myoclonus. Much of his study explores Genetics relationship to Cardiac muscle. His work focuses on many connections between SGCE and other disciplines, such as Gene isoform, that overlap with his field of interest in Intron.
His research integrates issues of Dystrobrevin, Kidney, Gene duplication and Dystrophin-associated protein in his study of Cell biology. His Myoclonus study also includes
His primary areas of investigation include Genetics, TCF4, Disease, Transcription factor and C9orf72. Epigenetics, Fukutin-related protein, Genetic enhancement, Muscular dystrophy and Mutant are the subjects of his Genetics studies. His Transcription factor research is multidisciplinary, relying on both Chromatin immunoprecipitation, Autism and CHRNA5.
His studies deal with areas such as C9orf72 Protein, Frontotemporal lobar degeneration and Amyotrophic lateral sclerosis as well as C9orf72. Derek J. Blake has researched C9orf72 Protein in several fields, including DNA Repeat Expansion, Southern blot, Knockout mouse and Neurology, Neuroscience. His research integrates issues of Gene knockdown, Gene expression profiling, Cell biology, Regulation of gene expression and Notch signaling pathway in his study of Molecular biology.
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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
Alan E. Renton;Elisa Majounie;Adrian James Waite;Javier Simón-Sánchez;Javier Simón-Sánchez.
Neuron (2011)
Function and genetics of dystrophin and dystrophin-related proteins in muscle
Derek J. Blake;Andrew Weir;Sarah E. Newey;Kay E. Davies.
Physical Review (2002)
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.
Martin Brockington;Derek J. Blake;Paola Prandini;Susan C. Brown.
American Journal of Human Genetics (2001)
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
Martin Brockington;Yeliz Yuva;Paola Prandini;Susan C. Brown.
Human Molecular Genetics (2001)
Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia
Konrad Talbot;Wess L. Eidem;Caroline L. Tinsley;Matthew A. Benson.
Journal of Clinical Investigation (2004)
PDZ Domains: Targeting signalling molecules to sub‐membranous sites
Christopher P. Ponting;Christopher Phillips;Kay E. Davies;Derek J. Blake.
BioEssays (1997)
Primary structure of dystrophin-related protein.
Jonathon M. Tinsley;Derek J. Blake;A. Roche;U. Fairbrother.
Nature (1992)
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
Wei Li;Qing Zhang;Naoki Oiso;Edward K Novak.
Nature Genetics (2003)
Dysbindin, a Novel Coiled-coil-containing Protein That Interacts with the Dystrobrevins in Muscle and Brain *
Matthew A. Benson;Sarah E. Newey;Enca Martin-Rendon;Richard Hawkes.
Journal of Biological Chemistry (2001)
The neurobiology of duchenne muscular dystrophy: learning lessons from muscle?
Derek J. Blake;Stephan Kröger.
Trends in Neurosciences (2000)
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