Results 61 to 70 of about 4,001 (193)

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, Volume 26, Issue 9, Page 6-23, September 2026.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 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  

Dysferlin-peptides redirect mutant dysferlin in transfected C2C12 cells.

, 2012
C2C12 cells were transfected with either GFP-tagged wildtype human dysferlin cDNA or missense-mutated dysferlin cDNA DYSF p.G299R or p.L1341P. Transfected cells were treated with TAT-labeled dysferlin-peptides corresponding to the mutation.
Peter T. Daniel (118346), Andreas Marg (118333), Severine Kunz (118335), Verena Schoewel (118330), Ute Zacharias (118344), Simone Spuler (118350), Tim Overkamp (118338), Romy Siegert Carrazedo (118341)   +7 more
core   +1 more source

Targeting progressive multiple sclerosis: Toward mechanism‐informed precision medicine

Journal of Internal Medicine, Volume 300, Issue 3, Page 238-257, September 2026.
Abstract Multiple sclerosis has undergone a therapeutic revolution over the past three decades. Randomized clinical trials and real‐world data demonstrate that modern disease‐modifying therapies substantially reduce relapse rates and acute inflammatory activity detected by magnetic resonance imaging (MRI).
Fredrik Piehl, Gonçalo Castelo‐Branco, Maja Jagodic, Tomas Olsson   +3 more
wiley   +1 more source

Placental Dysferlin Expression is Reduced in Severe Preeclampsia [PDF]

Placenta, 2009
Dysferlin (DYSF) and myoferlin (MYOF), members of the ferlin family of membrane proteins, are co-expressed in human placental syncytiotrophoblast (STB). Although the role of these ferlin proteins in the placenta has yet to be established, it has been suggested that DYSF and MYOF may contribute to the stability of the apical STB plasma membrane.
C T, Lang, K B, Markham, N J, Behrendt, A A, Suarez, P, Samuels, D D, Vandre, J M, Robinson, W E, Ackerman   +7 more
openaire   +2 more sources

Elevated Ca2+ at the triad junction underlies dysregulation of Ca2+ signaling in dysferlin-null skeletal muscle

Frontiers in Physiology, 2022
Dysferlin-null A/J myofibers generate abnormal Ca2+ transients that are slightly reduced in amplitude compared to controls. These are further reduced in amplitude by hypoosmotic shock and often appear as Ca2+ waves (Lukyanenko et al., J. Physiol., 2017).
Valeriy Lukyanenko, Joaquin Muriel, Daniel Garman, Daniel Garman, Leonid Breydo, Robert J. Bloch   +5 more
doaj   +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

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  

Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy

Molecular Therapy: Methods & Clinical Development, 2019
We delivered plasmid DNA encoding therapeutic genes to the muscles of mouse models of limb girdle muscular dystrophy (LGMD) 2A, 2B, and 2D, deficient in calpain3, dysferlin, and alpha-sarcoglycan, respectively.
Tuhin K. Guha, Christophe Pichavant, Michele P. Calos   +2 more
doaj   +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