... sealing the tear ( Demonbreun et al., 2016 ; Dowling et al., 2021 ). DYSF encodes dysferlin, a sarcolemmal protein that plays a key role in skeletal muscle membrane repair. Recessive loss-of-function mutations in dysferlin cause LGMD R2. Recently, a large family with a late-onset muscular dystrophy...

...Lucie O. M. Perillat; Tatianna W. Y. Wong; Eleonora Maino; Abdalla Ahmed; Ori Scott; Elzbieta Hyatt; Paul Delgado-Olguin; Shagana Visuvanathan; Evgueni A. Ivakine; Ronald D. Cohn Becker Muscular Dystrophy (BMD) is a rare X-linked recessive neuromuscular disorder frequently caused by in-frame...

...Trinitee Oliver; Nhu Y. Nguyen; Christopher B. Tully; Nikki M. McCormack; Christina M. Sun; Alyson A. Fiorillo; Christopher R. Heier ABSTRACT Absence of dystrophin results in muscular weakness, chronic inflammation and cardiomyopathy in Duchenne muscular dystrophy (DMD). Pharmacological...

...Kristy Swiderski; Audrey S. Chan; Marco J. Herold; Andrew J. Kueh; Jin D. Chung; Justin P. Hardee; Jennifer Trieu; Annabel Chee; Timur Naim; Paul Gregorevic; Gordon S. Lynch ABSTRACT Duchenne muscular dystrophy (DMD) is a devastating monogenic skeletal muscle-wasting disorder. Although many...

...Travis D. Carney; Rucha Y. Hebalkar; Evgeniia Edeleva; Ibrahim Ömer Çiçek; Halyna R. Shcherbata ABSTRACT Deficiencies in the human dystrophin glycoprotein complex (DGC), which links the extracellular matrix with the intracellular cytoskeleton, cause muscular dystrophies, a group of incurable...

...Christopher M. Brennan; Abby S. Hill; Michael St. Andre; Xianfeng Li; Vijaya Madeti; Susanne Breitkopf; Seth Garren; Liang Xue; Tamara Gilbert; Angela Hadjipanayis; Mara Monetti; Charles P. Emerson, Jr; Robert Moccia; Jane Owens; Nicolas Christoforou ABSTRACT Facioscapulohumeral muscular dystrophy...

... muscular dystrophy (DMD) patients present with dilated cardiomyopathy development, which considerably contributes to morbidity and mortality. Because the mechanisms responsible for the cardiac complications in the context of DMD are largely unknown, evidence-based therapy approaches are still lacking...

...Tatianna Wai Ying Wong; Abdalla Ahmed; Grace Yang; Eleonora Maino; Sydney Steiman; Elzbieta Hyatt; Parry Chan; Kyle Lindsay; Nicole Wong; Diane Golebiowski; Joel Schneider; Paul Delgado-Olguín; Evgueni A. Ivakine; Ronald D. Cohn ABSTRACT Duchenne muscular dystrophy (DMD) is a life-threatening...

... for organ genesis and maintenance. Disruption of the basal lamina and its functions is central to many disease processes, including cancer metastasis, kidney disease, eye disease, muscular dystrophies and specific types of brain malformation. The latter three pathologies occur in the α-dystroglycanopathies...

...’. Disease modelling Muscular dystrophy Neuromuscular disease Rare disease Translational research Maaike van Putten Annemieke Aartsma-Rus James J. Dowling Neuromuscular diseases (NMDs) are a broad and heterogeneous collection of disorders that involve...

...Maaike van Putten; Erin M. Lloyd; Jessica C. de Greef; Vered Raz; Raffaella Willmann; Miranda D. Grounds; Annemieke Aartsma-Rus; James Dowling; Maaike van Putten ABSTRACT Muscular dystrophies (MDs) encompass a wide variety of inherited disorders that are characterized by loss of muscle tissue...

... by the addition of further precursor cells, called satellite cells, which are also responsible for regeneration following injury. Skeletal muscle regeneration occurs in most muscular dystrophies in response to necrosis of muscle fibres. However, the complex environment within dystrophic skeletal muscle, which...

.... Here, we outline the usefulness, caveats and potential of such models, using the example of the hDMDdel52/ mdx model, a humanized model recently generated for Duchenne muscular dystrophy (DMD). * Author for correspondence ( [email protected] ) Competing interests A.A.-R. is employed by Leiden...

... glycosylation to bind its matrix ligands. A distinct group of muscular dystrophies results from specific hypoglycosylation of αDG, and they are frequently associated with central nervous system involvement, ranging from profound brain malformation to intellectual disability without evident morphological defects...

...Jennifer E. Hewitt; Amelia K. Pollard; Leila Lesanpezeshki; Colleen S. Deane; Christopher J. Gaffney; Timothy Etheridge; Nathaniel J. Szewczyk; Siva A. Vanapalli ABSTRACT Muscle strength is a key clinical parameter used to monitor the progression of human muscular dystrophies, including Duchenne...

... of principle for the use of myotonic dystrophy 1 patient-specific induced pluripotent stem cells to model muscle pathology in vitro and in drug discovery. Myotonic dystrophy Induced pluripotent stem (iPS) cells Skeletal myogenesis Muscular dystrophy PAX7 RNA foci National Institutes...

...Tingting Sui; Yeh Siang Lau; Di Liu; Tingjun Liu; Li Xu; Yandi Gao; Liangxue Lai; Zhanjun Li; Renzhi Han ABSTRACT Duchenne muscular dystrophy (DMD) is an X-linked muscle-wasting disorder caused by mutations in the dystrophin gene, with an incidence of 1 in 3500 in new male births. Mdx mice...

...Chunhui Jiang; Yefei Wen; Kazuki Kuroda; Kevin Hannon; Michael A. Rudnicki; Shihuan Kuang Duchenne muscular dystrophy (DMD) is a devastating disease characterized by muscle wasting, loss of mobility and death in early adulthood. Satellite cells are muscle-resident stem cells responsible...

...://creativecommons.org/licenses/by/3.0 ), which permits unrestricted use, distribution and reproduction in any medium provided that the original work is properly attributed. Usher syndrome Cancer Individualized medicine Muscular dystrophy Tuberculosis Since its establishment as a vertebrate model...