Results 91 to 100 of about 4,634 (224)

Dysferlin Regulates Cardiac T-tubule Structure and Excitation-contraction Coupling in Isolated Cardiac Myocytes at Rest and in Response to Acute Hypo-osmotic Stress and is Protective Against Arrhythmias in Langendorff-perfused Hearts

bioRxiv
Dysferlin is a membrane-associated protein that supports skeletal muscle function such that mutations in the DYSF gene can cause muscular dystrophy. Growing evidence suggests dysferlin regulates cardiac function, but this is less well understood.
C. Quinn, C. Booth, K. Smith, E. Hayter, E. Cartwright, A. W. Trafford, K. Dibb   +6 more
semanticscholar   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Studies on muscular dystrophy associated genes [PDF]

, 2007
Muscular dystrophy is a collective group of genetic disorder that results in progressive wasting of skeletal muscle. Dysferlin, the gene responsible for Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM) was found to be a member of
Bakir, Hadil
core  

Alpha-tubulin co-localizes with dysferlin. [PDF]

, 2013
GFP-dysferlin was expressed in C2C12 myoblasts and myotubes. The localization of GFP-dysferlin was compared to that of endogenous alpha-tubulin stained with anti-alpha-tubulin antibody by confocal microscopy.
Bilal A. Azakir (192892), Christian Therrien (192897), Michael Sinnreich (192902), Sabrina Di Fulvio (192887)   +3 more
core   +1 more source

Dysferlin Deficiency Results in Myofiber-Type Specific Differences in Abundances of Calcium-Handling and Glycogen Metabolism Proteins

International Journal of Molecular Sciences, 2022
Dysferlinopathies are a clinically heterogeneous group of muscular dystrophies caused by a genetic deficiency of the membrane-associated protein dysferlin, which usually manifest post-growth in young adults.
E. Lloyd, G. Pinniger, M. Grounds, R. Murphy   +3 more
semanticscholar   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1129-1140, June 2026.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

On the role of dysferlin in striated muscle: membrane repair, t‐tubules and Ca2+ handling

Journal of Physiology
Dysferlin is a 237 kDa membrane‐associated protein characterised by multiple C2 domains with a diverse role in skeletal and cardiac muscle physiology. Mutations in DYSF are known to cause various types of human muscular dystrophies, known collectively as
Topical Review, C. Quinn, E. Cartwright, A. Trafford, K. Dibb, Laura Bennet, Wolfgang A. Linke   +6 more
semanticscholar   +1 more source

Beyond the first bout: Adaptations to repeated injuries across physiological and pathological conditions

Physiological Reports, Volume 14, Issue 10, May 2026.
The repeated bout effect (RBE) is an adaptive response to a subsequent injury; muscle physiological or pathological state determines the magnitude and trajectory of strength adaptation. Abstract Skeletal muscle exhibits remarkable plasticity following injury, yet most research has focused on responses to a single bout of eccentric contractions.
Cory W. Baumann, Christopher P. Ingalls, Kazunori Nosaka, Jarrod A. Call   +3 more
wiley   +1 more source

Genetic analysis of limb girdle muscular dystrophy and Miyoshi myopathy [PDF]

, 2003
The autosomal recessive muscular dystrophies encompass limb girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), which can show clinical and genetic overlap.
Summerill, Gillian
core  

Mapping the determinants of dysferlin dimerization. [PDF]

, 2013
(A) Dependence of FRET efficiencies on the protein expression levels of C2A to C2D domains of dysferlin. Hyperbolic fitting showed that the C2B (red), C2C (green) and C2D (purple) domains of dysferlin all mediate the self-interaction.
Sandeep Pallikkuth (339527), Zhanjia Hou (316171), Seth L. Robia (316175), Gregory A. Mignery (339528), Renzhi Han (276195), Li Xu (108702)   +5 more
core   +1 more source