Results 151 to 160 of about 3,769 (195)

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 ...
Rita Barresi, Hanns Lochmüller
exaly   +3 more sources

Age- & Muscle-specific Patterns of Dysferlin Expression in Rats Suggest Role in Injury Response

Physiology
Background: Muscle cells employ a robust membrane injury response to maintain cell homeostasis, prevent muscle degeneration and minimize fibrosis (1-3). One protein often listed as a key element in this response is dysferlin (4, 5).
Noah L Weisleder, David W. Russ
semanticscholar   +1 more source

Dysferlin is essential for endocytosis in the sea star oocyte

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. In this study, we isolated plasma membrane-enriched fractions from full-grown immature oocytes of the sea star, and identified dysferlin by mass spectrometry analysis ...
Nathalie Oulhen, Isabela Ramos, Gary M Wessel   +2 more
exaly   +3 more sources

Dysferlin Enables Tubular Membrane Proliferation in Cardiac Hypertrophy

Circulation Research
BACKGROUND: Cardiac hypertrophy compensates for increased biomechanical stress of the heart induced by prevalent cardiovascular pathologies but can result in heart failure if left untreated.
N. Paulke, C. Fleischhacker, J. B. Wegener, G. Riedemann, C. Cretu, Mufassra Mushtaq, N. Zaremba, Wiebke Möbius, Yannik Zühlke, Jasper Wedemeyer, Lorenz Liebmann, Anastasiia Gorshkova, D. Kownatzki-Danger, E. Wagner, Tobias Kohl, C. Wichmann, Olaf Jahn, Henning Urlaub, K. Toischer, Gerd Hasenfuss, T. Moser, Julia Preobraschenski, C. Lenz, Eva A. Rog‐Zielinska, S. E. Lehnart, S. Brandenburg   +25 more
semanticscholar   +1 more source

Structural and ultrastructural changes in the skeletal muscles of dysferlin-deficient mice during postnatal ontogenesis

Ultrastructural Pathology, 2022
A number of sarcolemma proteins are responsible for muscle fiber repair. Dysferlin encoded by the DYSF gene is one of these proteins. Dysferlin promotes membrane repair in striated muscle fibers (MFs).
O. N. Chernova, I. Chekmareva, M. Mavlikeev, I. A. Yakovlev, A. P. Kiyasov, R. V. Deev   +5 more
semanticscholar   +1 more source

Thermoneutral Housing and a Western Diet Combination Exacerbates Dysferlin‐Deficient Muscular Dystrophy

Muscle and Nerve, 2022
Most mouse models of muscular dystrophy (MD) show mild phenotypes, which limits the translatability of experimental therapies to patients. A growing body of evidence suggests that MD is accompanied by metabolic abnormalities that could potentially ...
Graham Donen, Z. White, Elodie Sauge, M. Ritso, M. Théret, J. Boyd, A. Devlin, F. Rossi, P. Bernatchez   +8 more
semanticscholar   +1 more source

Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy.

Neuromuscular Disorders
Dysferlin-deficient limb girdle muscular dystrophy (LGMD R2), also referred to as dysferlinopathy, can be associated with respiratory muscle weakness as the disease progresses.
H. Borland, U. Moore, H. G. Dressman, Anri Human, Anna G. Mayhew, H. Hilsden, L. Rufibach, T. Duong, E. Maron, B. Dewolf, Kristy Rose, C. Siener, Simone Thiele, N. S. Práxedes, A. Canal, S. Holsten, C. Sakamoto, Irene Pedrosa-Hernández, L. Bello, L. Alfano, L. Lowes, Meredith K James, V. Straub   +22 more
semanticscholar   +1 more source

Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies

Human Mutation, 2005
Mutations in the DYSF gene underlie two main muscle diseases: Limb Girdle Muscular Dystrophy (LGMD) 2B and Miyoshi myopathy (MM). Dysferlin is involved in muscle membrane-repair and is thought to interact with other dysferlin molecules and annexins A1 and A2 at the sarcolemma.
Rachele Cagliani, Francesca Magri, Luciano Merlini   +2 more
exaly   +6 more sources

Repairing the tears: dysferlin in muscle membrane repair

Trends in Molecular Medicine, 2003
Many muscular dystrophies arise from enhanced muscle degeneration, but one muscular dystrophy subtype has now been shown to arise from defective muscle membrane repair. Mutations in the gene encoding dysferlin cause muscular dystrophy, and recent work has demonstrated a role for this protein in resealing muscle membrane tears.
Katherine R, Doherty, Elizabeth M, McNally   +1 more
openaire   +2 more sources

Locally increased dysferlin expression improves left-ventricular function by stabilizing membrane nanodomains of cardiomyocytes in the myocardial infarction border zone

European Heart Journal
Dysferlin, a transmembrane protein with multiple Ca2+-binding C2-domains, is expressed in the sarcolemma and vesicle membranes of striated muscle cells.
J. B. Wegener, Y. Zuehlke, C. Fleischhacker, N. Paulke, G. Riedemann, T. Kohl, C. Lenz, S. E. Lehnart, S. Brandenburg   +8 more
semanticscholar   +1 more source