Results 1 to 10 of about 2,523 (110)

Dysferlin stabilizes membrane nanodomains of cardiomyocytes after myocardial infarction [PDF]

Scientific Reports
Despite advances in acute care medicine, myocardial infarction (MI) remains a predominant cause of premature death and heart failure. In the MI border zone, cardiomyocytes are exposed to high biomechanical stress that impairs the integrity of the ...
Justus B. Wegener, Yannik Zühlke, Carolin Fleischhacker, Justus Marks, Brian Foo, Niklas Bader, Gabriel C. Riedemann, Jasper Wedemeyer, Kim-Chi Vu, Ana M. Vergel Leon, Nora Josefine Paulke, Tobias Kohl, Henning Urlaub, Constanze Schmidt, Gerd Hasenfuß, Tobias Moser, Eva A. Rog-Zielinska, Christof Lenz, Stephan E. Lehnart, Sören Brandenburg   +19 more
doaj   +2 more sources

Insights into the heterogeneous muscle lipidome of dysferlin-deficient mice: effects of age, muscle type, and sex [PDF]

Skeletal Muscle
Dysferlinopathy is an age-dependent muscular dystrophy caused by loss of the membrane-associated protein dysferlin. Disease severity increases with age and selectively affects specific muscle groups, yet the molecular basis for this vulnerability remains
Stacey N. Keenan, Jackie Bayliss, Olivia Lee, Erin M. Lloyd, Peter J. Meikle, Miranda D. Grounds, Matthew J. Watt   +6 more
doaj   +2 more sources

Full-length Dysferlin Transfer by the Hyperactive Sleeping Beauty Transposase Restores Dysferlin-deficient Muscle

Molecular Therapy - Nucleic Acids, 2016
Dysferlin-deficient muscular dystrophy is a progressive disease characterized by muscle weakness and wasting for which there is no treatment. It is caused by mutations in DYSF, a large, multiexonic gene that forms a coding sequence of 6.2 kb.
Simone Spuler, Helena Escobar, Andreas Marg   +2 more
exaly   +3 more sources

Metabolic dysregulation contributes to the development of dysferlinopathy [PDF]

Life Science Alliance
Dysferlin deficiency causes metabolic dysregulation, characterized by mitochondrial abnormalities, death signaling, and elevated glucose uptake and excessive glycogen accumulation in muscle.
Regula Furrer, Sedat Dilbaz, Stefan A Steurer, Gesa Santos, Bettina Karrer-Cardel, Danilo Ritz, Michael Sinnreich, Christoph Handschin   +7 more
doaj   +2 more sources

DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulation [PDF]

JCI Insight
Limb-girdle muscular dystrophy R2 (LGMD R2) is an autosomal recessive disorder caused by dysferlin deficiency, leading to progressive muscle weakness and wasting.
Celine Bruge, Nathalie Bourg, Emilie Pellier, Quentin Miagoux, Manon Benabides, Noella Grossi, Hassan Hayat, Margot Jarrige, Helene Polveche, Valeria Agostini, Anthony Brureau, Stephane Vassilopoulos, Teresinha Evangelista, Gorka Fernández-Eulate, Tanya Stojkovic, Isabelle Richard, Xavier Nissan   +16 more
doaj   +2 more sources

Cryo-EM structures of the membrane repair protein dysferlin [PDF]

Nature Communications
Plasma membrane repair in response to damage is essential for cell viability. The ferlin family protein dysferlin plays a key role in Ca2+-dependent membrane repair in striated muscles.
Hsiang-Ling Huang, Giovanna Grandinetti, Sarah M. Heissler, Krishna Chinthalapudi   +3 more
doaj   +2 more sources

Gene-editing in patient and humanized-mice primary muscle stem cells rescues dysferlin expression in dysferlin-deficient muscular dystrophy [PDF]

Nature Communications
Dystrophy-associated fer-1-like protein (dysferlin) conducts plasma membrane repair. Mutations in the DYSF gene cause a panoply of genetic muscular dystrophies.
Helena Escobar, Silvia Di Francescantonio, Julia Smirnova, Robin Graf, Stefanie Müthel, Andreas Marg, Alexej Zhogov, Supriya Krishna, Eric Metzler, Mina Petkova, Oliver Daumke, Ralf Kühn, Simone Spuler   +12 more
doaj   +2 more sources

Dysferlinopathy as cause of long-term hyperCKemia with preserved strength [PDF]

Orphanet Journal of Rare Diseases
Background Dysferlin (DYSF) has a crucial role in sarcolemmal repair. While DYSF mutations commonly manifest as limb-girdle muscular dystrophy (LGMDR2) or distal Miyoshi myopathy, atypical manifestations, such as asymptomatic hyperCKemia and ...
Ikreet Cheema, Jacob Goodwin, Teerin Liewluck, Robert Charles Bucelli, Alan Pestronk, Margherita Milone   +5 more
doaj   +2 more sources

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

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