Results 141 to 150 of about 3,769 (195)

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

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.
James E Galvin, Margherita Milone, Alan Pestronk   +2 more
exaly   +3 more sources

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

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

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

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

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

High‐throughput screening identifies bazedoxifene as a potential therapeutic for dysferlin‐deficient limb girdle muscular dystrophy

British Journal of Pharmacology
Limb‐girdle muscular dystrophy R2 (LGMD R2) is a rare genetic disorder characterised by progressive weakness and wasting of proximal muscles. LGMD R2 is caused by the loss of function of dysferlin, a transmembrane protein crucial for plasma membrane ...
Celine Bruge, N. Bourg, Emilie Pellier, Johana Tournois, Jerome Polentes, Manon Benabides, Noella Grossi, Anne Bigot, Anthony Brureau, Isabelle Richard, X. Nissan   +10 more
semanticscholar   +1 more source

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

Lipid Accumulation in Dysferlin-Deficient Muscles

The American Journal of Pathology, 2014
Dysferlin is a membrane associated protein involved in vesicle trafficking and fusion. Defects in dysferlin result in limb-girdle muscular dystrophy type 2B and Miyoshi myopathy in humans and myopathy in A/J(dys-/-) and BLAJ mice, but the pathomechanism of the myopathy is not understood.
Grounds, M., Terrill, J., Crabb, Hannah, Robertson, Terry, Papadimitriou, J., Spuler, S., Shavlakadze, T.   +6 more
openaire   +3 more sources