Research Topics
Species | L V AndersonSummaryAffiliation: University of Newcastle Country: UK Publications
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Detail Information
Publications
Immunomarkers for molecular massL V Anderson
Neurobiology Department, University Medical School, Newcastle upon Tyne, UK
Neuromuscul Disord 9:421-2. 1999..The proteins known to cause different forms of muscular dystrophy cover a wide range of sizes, and it is now possible to use a cocktail of antibodies to generate a ladder of molecular mass markers on Western blots of human skeletal muscle...
Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2AL V Anderson
Neurobiology Department, University Medical School, Newcastle upon Tyne, United Kingdom
Am J Pathol 153:1169-79. 1998..These results indicate that immunodiagnosis is feasible, but caution will need to be exercised with the interpretation of near-normal protein profiles...- Dysferlin is a plasma membrane protein and is expressed early in human developmentL V Anderson
Neurobiology Department, University Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
Hum Mol Genet 8:855-61. 1999..Lack of dysferlin at this critical time may contribute to the pattern of muscle involvement that develops later, with the onset of a muscular dystrophy primarily affecting proximal or distal muscles... - Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)L V Anderson
Neurobiology Department, University Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
Neuromuscul Disord 10:553-9. 2000..In addition, an association was found between prominent expression of smaller forms of the 80 kDa fragment of laminin alpha 2 chain (merosin) and dysferlin-deficiency... - Multiplex Western blotting system for the analysis of muscular dystrophy proteinsL V Anderson
Neurobiology Department, University Medical School, Framlington Place, Newcastle upon Tyne, United Kingdom
Am J Pathol 154:1017-22. 1999..This may indicate the existence of an embryonic isoform, which is re-expressed in regenerating fibers... - Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophiesR Pogue
Department of Neurobiology, University Medical School, Framlington Place, NE2 4HH, Newcastle upon Tyne, UK
Neuromuscul Disord 11:80-7. 2001..The use of this approach has so far helped us to identify mutations in ten sarcoglycanopathy (limb-girdle muscular dystrophy 2C-2F) patients, and seven calpainopathy (limb-girdle muscular dystrophy 2A) patients... - The phenotype of calpainopathy: diagnosis based on a multidisciplinary approachC Pollitt
Department of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
Neuromuscul Disord 11:287-96. 2001..It is important, especially in sporadic cases, in targeting and interpreting laboratory investigations in order to provide accurate diagnostic and prognostic information... 
Late onset in dysferlinopathy widens the clinical spectrumL Klinge
Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom
Neuromuscul Disord 18:288-90. 2008..This case represents the eldest age of onset of dysferlinopathy reported so far and widens the clinical spectrum of this disease...- Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2BR E Bittner
Nat Genet 23:141-2. 1999 - Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)T Weiler
Department of Biochemistry and Molecular Biology, University of Manitoba, 770 Bannatyne Avenue, Winnipeg, Manitoba R3E 0W3, Canada
Hum Mol Genet 8:871-7. 1999.... - Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutationE Vafiadaki
School of Biochemistry and Genetics, University of Newcastle upon Tyne, UK
Neuroreport 12:625-9. 2001..The identification of this mutation has implications for the various groups using this widely available mouse stock... - Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD familyI B Ginjaar
Department of Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
Eur J Hum Genet 8:793-6. 2000..This finding underscores the future potential of gene therapeutic strategies aimed at inducing exon skipping in Duchenne muscular dystrophy, to generate a much milder disease... - Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1CM Brockington
Dubowitz Neuromuscular Centre, Department of Paediatrics, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London, UK
Hum Mol Genet 10:2851-9. 2001..The spectrum of LGMD2I phenotypes ranged from infants with an early presentation and a Duchenne-like disease course including cardiomyopathy, to milder phenotypes compatible with a favourable long-term outcome... - Calpainopathy-a survey of mutations and polymorphismsI Richard
URA 1922 CNRS, Genethon, Evry, France
Am J Hum Genet 64:1524-40. 1999..Knowledge of the mutation spectrum occurring in the CAPN3 gene may contribute significantly to structure/function and pathogenesis studies. It may also help in the design of efficient mutation-screening strategies for calpainopathies... - Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2AS Baghdiguian
, CNRS-UMR 5539, , France
Nat Med 5:503-11. 1999 - Utrophin mRNA expression in muscle is not restricted to the neuromuscular junctionR Vater
Department of Neurobiology, School of Neurosciences and Psychiatry, The Medical School, University of Newcastle upon Tyne, United Kingdom
Mol Cell Neurosci 10:229-42. 1998..We discuss the possible regulatory mechanisms involved in the heterogeneous expression of utrophin mRNA in skeletal muscle... - Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophyL Metzinger
Department of Biochemistry, University of Oxford, UK
Hum Mol Genet 6:1185-91. 1997..This is the first indication that a cytoplasmic component of the dystrophin-associated protein complex may be involved in the pathogenesis of limb-girdle muscular dystrophy... - A role of dystroglycan in schwannoma cell adhesion to lamininK Matsumura
Department of Neurology and Neuroscience, Teikyo University School of Medicine, Tokyo 173, Japan
J Biol Chem 272:13904-10. 1997..Altogether, these results support a role for dystroglycan as a major cell adhesion molecule in the surface membrane of RT4 cells... - Dystroglycan is a dual receptor for agrin and laminin-2 in Schwann cell membraneH Yamada
Department of Neurology and Neuroscience, Teikyo University School of Medicine, Tokyo 173, Japan
J Biol Chem 271:23418-23. 1996..All together, these results indicate that alpha-dystroglycan is a dual receptor for agrin and laminin-2 in the Schwann cell membrane...