Results 31 to 40 of about 4,634 (224)

Muscle-specific Ryanodine receptor 1 properties underlie limb-girdle muscular dystrophy 2B/R2 progression [PDF]

Nature Communications
Ryanodine receptor 1 Ca2+ leak is a signal in skeletal muscle, but chronic leak can underlie pathology. Here we show that in healthy male mouse, limb-girdle muscle presents higher sympathetic input, elevated ryanodine receptor 1 basal phosphorylation ...
Aldo Meizoso-Huesca, Cedric R. Lamboley, James R. Krycer, Mark P. Hodson, James E. Hudson, Bradley S. Launikonis   +5 more
doaj   +2 more sources

Caveolin Regulates Endocytosis of the Muscle Repair Protein, Dysferlin [PDF]

Journal of Biological Chemistry, 2008
Dysferlin and Caveolin-3 are plasma membrane proteins associated with muscular dystrophy. Patients with mutations in the CAV3 gene show dysferlin mislocalization in muscle cells. By utilizing caveolin-null cells, expression of caveolin mutants, and different mutants of dysferlin, we have dissected the site of action of caveolin with respect to ...
Hernandez-Deviez, D. J., Howes, M. T., Laval, S. H., Bushby, K., Hancock, J. F., Parton, R. G.   +5 more
openaire   +8 more sources

Enhancing the Performance of a Blood-Based Diagnostic Screening Tool for Dysferlinopathy: Optimising an Immunoassay Across Continents. [PDF]

Neuropathol Appl Neurobiol
We validated an immunohistochemical method for detecting dysferlin in neutrophils from peripheral blood films (PBFs), offering a minimally invasive alternative to muscle biopsy. In an Indian cohort, the assay showed 100% sensitivity. Specificity depended on sample quality and storage conditions.
D'Este G, Cox D, Maistrello L, Emmons SS, Gaitonde P, Dastur R, Barresi R.   +6 more
europepmc   +2 more sources

The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions

Frontiers in Cell and Developmental Biology, 2021
Dysferlinopathies are a group of muscular dystrophies caused by recessive mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is a transmembrane protein involved in several muscle functions like T-tubule maintenance and membrane repair ...
Océane Ballouhey, Sébastien Courrier, Virginie Kergourlay, Svetlana Gorokhova, Svetlana Gorokhova, Mathieu Cerino, Mathieu Cerino, Martin Krahn, Martin Krahn, Nicolas Lévy, Nicolas Lévy, Nicolas Lévy, Marc Bartoli   +12 more
doaj   +1 more source

Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy. [PDF]

PLoS ONE, 2014
Defects in dystroglycan glycosylation are associated with a group of muscular dystrophies, termed dystroglycanopathies, that include Fukuyama congenital muscular dystrophy (FCMD). It is widely believed that abnormal glycosylation of dystroglycan leads to
Motoi Kanagawa, Zhongpeng Lu, Chiyomi Ito, Chie Matsuda, Katsuya Miyake, Tatsushi Toda   +5 more
doaj   +1 more source

Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity. [PDF]

PLoS ONE, 2010
Dysferlin is critical for repair of muscle membranes after damage. Mutations in dysferlin lead to a progressive muscular dystrophy. Recent studies suggest additional roles for dysferlin.
Antoine de Morrée, Paul J Hensbergen, Herman H H B M van Haagen, Irina Dragan, André M Deelder, Peter A C 't Hoen, Rune R Frants, Silvère M van der Maarel   +7 more
doaj   +1 more source

Effect of Dysferlin Deficiency on Atherosclerosis and Plasma Lipoprotein Composition Under Normal and Hyperlipidemic Conditions

Frontiers in Physiology, 2021
Dysferlinopathies are a group of muscle disorders caused by mutations to dysferlin, a transmembrane protein involved in membrane patching events following physical damage to skeletal myofibers.
Zoe White, Zoe White, Nadia Milad, Nadia Milad, Stephanie L. Sellers, Stephanie L. Sellers, Pascal Bernatchez, Pascal Bernatchez   +7 more
doaj   +1 more source

Dysferlin forms a dimer mediated by the C2 domains and the transmembrane domain in vitro and in living cells. [PDF]

PLoS ONE, 2011
Dysferlin was previously identified as a key player in muscle membrane repair and its deficiency leads to the development of muscular dystrophy and cardiomyopathy. However, little is known about the oligomerization of this protein in the plasma membrane.
Li Xu, Sandeep Pallikkuth, Zhanjia Hou, Gregory A Mignery, Seth L Robia, Renzhi Han   +5 more
doaj   +1 more source

Dysferlin and muscle membrane repair [PDF]

Current Opinion in Cell Biology, 2007
The ability to repair membrane damage is conserved across eukaryotic cells and is necessary for the cells to survive a variety of physiological and pathological membrane disruptions. Membrane repair is mediated by rapid Ca(2+)-triggered exocytosis of various intracellular vesicles, such as lysosomes and enlargeosomes, which lead to the formation of a ...
Renzhi, Han, Kevin P, Campbell
openaire   +2 more sources

Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy. [PDF]

Eur J Neurol
Muscle biopsies from patients across eight neuromuscular disorders and healthy controls were analyzed using immunofluorescence (IF) and immunoblot (WB) to evaluate the expression and localization of seven annexin proteins (A1, A2, A4, A5, A6, A7, A11).
He QF, Lin YH, Zheng ZL, Zeng MH, Lin X, Liu XY, Kang-Yang, Zhang QI, Lin MT, Wang N, Wang ZQ, Lin F.   +11 more
europepmc   +2 more sources