Results 151 to 160 of about 4,001 (193)

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations [PDF]

European Journal of Human Genetics, 2011
Dysferlin is a 237-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing. Dysferlin gene mutations cause limb-girdle muscular dystrophy (LGMD) 2B, Miyoshi myopathy (MM) and distal myopathy of the anterior tibialis. Considering that a secondary Dysferlin reduction has also been described in other myopathies, our original goal was ...
Giulio Piluso, Carlo MINETTI
exaly   +11 more sources

Characterization of zebrafish dysferlin by morpholino knockdown [PDF]

Biochemical and Biophysical Research Communications, 2011
Mutations in the gene encoding dysferlin cause two distinct muscular dystrophy phenotypes: limb-girdle muscular dystrophy type 2B (LGMD-2B) and Miyoshi myopathy (MM). Dysferlin is a large transmembrane protein involved in myoblast fusion and membrane resealing.
Louis M. Kunkel, Matthew S. Alexander, Jennifer SanMiguel   +2 more
exaly   +3 more sources

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Dysfunction of dysferlin-deficient hearts

Journal of Molecular Medicine, 2007
Mutations in the gene encoding dysferlin cause limb-girdle muscular dystrophy 2B (LGMD2B), a disorder that is believed to spare the heart. We observed dilated cardiomyopathy in two out of seven LGMD2B patients and cardiac abnormalities in three others.
Katrin, Wenzel, Christian, Geier, Fatimunnisa, Qadri, Norbert, Hubner, Herbert, Schulz, Bettina, Erdmann, Volkmar, Gross, David, Bauer, Ralf, Dechend, Rainer, Dietz, Karl Josef, Osterziel, Simone, Spuler, Cemil, Ozcelik   +12 more
openaire   +2 more sources

Muscle pathology in dysferlin deficiency

Neuropathology and Applied Neurobiology, 2002
Dysferlin deficiency is being increasingly recognized in limb‐girdle dystrophy and distal myopathy but its role in the development of muscle pathology is still poorly understood. For this purpose, 26 muscle biopsies from 25 dysferlinopathy patients were analysed by routine histochemistry and by immunohistochemistry with eight different antibodies, and ...
FANIN, MARINA, ANGELINI, CORRADO
openaire   +3 more sources

Dysferlin is essential for endocytosis in the sea star oocyte [PDF]

Developmental Biology, 2014
Dysferlin is a calcium-binding transmembrane protein involved in membrane fusion and membrane repair. In humans, mutations in the dysferlin gene are associated with muscular dystrophy.
Gary Wessel, Isabela Ramos, Nathalie Oulhen   +2 more
exaly   +2 more sources

The muscle protein dysferlin accumulates in the Alzheimer brain [PDF]

Acta Neuropathologica, 2006
Dysferlin is a transmembrane protein that is highly expressed in muscle. Dysferlin mutations cause limb-girdle dystrophy type 2B, Miyoshi myopathy and distal anterior compartment myopathy. Dysferlin has also been described in neural tissue. We studied dysferlin distribution in the brains of patients with Alzheimer disease (AD) and controls.
Margherita Milone, James E Galvin, Alan Pestronk   +2 more
exaly   +3 more sources

Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms

Human Genetics, 2009
In conducting dysferlin mutational screening using blood mRNA instead of genomic DNA, we identified the occurrence of alternative splicing involving novel dysferlin exons, i.e. exons 5a and 40a, in addition to previously reported alternative splicing of exon 17.
Pramono, Z.A.D., Yee, W.C., Tan, C.L., Seah, I.A.L., See, J.S.L., Kam, S.Y., Lai, P.S.   +6 more
openaire   +2 more sources

Muscular dystrophy in dysferlin-deficient mouse models

Neuromuscular Disorders, 2013
Mutations in the dysferlin gene result in the development of a range of early adult-onset, progressive muscular dystrophies, collectively known as the dysferlinopathies. There is currently no effective treatment for these disorders. Several spontaneous and engineered alleles at the mouse dysferlin locus have been isolated and these dysferlin-deficient ...
Hanns Lochmüller, Rita Barresi
exaly   +3 more sources

Dysferlin, dystrophy, and dilatative cardiomyopathy

Journal of Molecular Medicine, 2007
The muscular dystrophies are a heterogeneous group of inherited disorders featuring progressive muscle weakness and atrophy. After the discovery of dystrophin, remarkable progress was made in defining the molecular properties of various proteins involved in the muscular dystrophies.
openaire   +2 more sources