Results 191 to 200 of about 6,430 (245)

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.
Margherita Milone
exaly   +3 more sources

Modular Dispensability of Dysferlin C2 Domains Reveals Rational Design for Mini-dysferlin Molecules [PDF]

Journal of Biological Chemistry, 2012
Dysferlin is a large transmembrane protein composed of a C-terminal transmembrane domain, two DysF domains, and seven C2 domains that mediate lipid- and protein-binding interactions. Recessive loss-of-function mutations in dysferlin lead to muscular dystrophies, for which no treatment is currently available.
Bilal Azakir, Christian Therrien
exaly   +7 more sources

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 ...
Mafalda Cacciottolo, Luisa Politano, Carlo Minetti   +2 more
exaly   +7 more sources

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Orientation of the Dysferlin C2A Domain is Responsive to the Composition of Lipid Membranes.

Journal of Physical Chemistry B, 2023
Dysferlin is a 230 kD protein that plays a critical function in the active resealing of micron-sized injuries to the muscle sarcolemma by recruiting vesicles to patch the injured site via vesicle fusion.
Andrew P. Carpenter, Patricia A. Khuu, T. Weidner, Colin P. Johnson, Steven Joop Roeters, J. Baio   +5 more
semanticscholar   +1 more source

Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin

Advances in Biology, 2023
Tetraspanins organize protein complexes at the cell membrane and are responsible for assembling diverse binding partners in changing cellular states. Tetraspanin CD82 is a useful cell surface marker for prospective isolation of human myogenic progenitors
Tatiana M Fontelonga, Arielle J Hall, Jaedon L Brown, Y. L. Jung, M. S. Alexander, J. Dominov, V. Mouly, N. Vieira, M. Zatz, M. Vainzof, E. Gussoni   +10 more
semanticscholar   +1 more source

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

Defective membrane repair in dysferlin-deficient muscular dystrophy

Nature, 2003
Muscular dystrophy includes a diverse group of inherited muscle diseases characterized by wasting and weakness of skeletal muscle. Mutations in dysferlin are linked to two clinically distinct muscle diseases, limb-girdle muscular dystrophy type 2B and Miyoshi myopathy, but the mechanism that leads to muscle degeneration is unknown.
Chien-Chang Chen, Kevin P Campbell
exaly   +3 more sources

Relative quantification of progressive changes in healthy and dysferlin‐deficient mouse skeletal muscle proteomes

Muscle and Nerve, 2023
Individuals with dysferlinopathies, a group of genetic muscle diseases, experience delay in the onset of muscle weakness. The cause of this delay and subsequent muscle wasting are unknown, and there are currently no clinical interventions to limit or ...
A. Golding, Wenping Li, P. Blank, Stephanie M. Cologna, Joshua Zimmerberg   +4 more
semanticscholar   +1 more source

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 deficiency treated like refractory polymyositis

Clinical Rheumatology, 2009
When an adult suffers from muscular symptoms, the diagnosis of polymyositis is often accepted if muscular biopsy reveals necrosis, fibrosis and cellular infiltrate with high expression of major histocompatibility complex class I. Late-onset limb-girdle muscular dystrophy (LGMD) can also be considered.
Julien, Vinit, Maxime, Samson, Jean-Baptiste, Gaultier, Annie, Laquerriere, Elisabeth, Ollagnon, Philippe, Petiot, Isabelle, Marie, Hervé, Levesque, Hugues, Rousset   +8 more
openaire   +2 more sources