Results 111 to 120 of about 4,001 (193)

Dysferlin Enables Tubular Membrane Proliferation in Cardiac Hypertrophy

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.
Paulke, Nora Josefine, Wedemeyer, Jasper, Zaremba, Nina, Fleischhacker, Carolin, Mushtaq, Mufassra, Wegener, Justus B., Möbius, Wiebke, Brandenburg, Sören, Cretu, Constantin, Zühlke, Yannik, Riedemann, Gabriel C.   +10 more
core   +1 more source

Peptide-phosphorodiamidate morpholino oligomer therapy for dysferlinopathy induces pseudoexon skipping and restoration of functional protein. [PDF]

JCI Insight
Gooding JE, Park G, Wagh A, Watts JK, Dominov JA, Brown RH.   +5 more
europepmc   +1 more source

Dysferlin (DYSF); proteasome [PDF]

Science-Business eXchange, 2012
openaire   +1 more source

Excess muscle plasma membrane leak disrupts ECM content and shifts macrophage-mediated muscle repair. [PDF]

JCI Insight
Lee G, Fitt AJ, Long AM, Vaught LA, DeBiasse D, Keeble AR, Kwon JM, Page PG, Daher MT, Hadhazy M, Willis AB, Ceja Galindo D, McCabe M, Lantz C, Hansen KC, Crosbie RH, Thorp EB, Demonbreun AR, McNally EM.   +18 more
europepmc   +1 more source

Vav2 is a master regulator of repair against bacterial pore-forming toxins. [PDF]

Life Sci Alliance
Kayejo VG, Hensley A, Katore T, Keyel PA.   +3 more
europepmc   +1 more source

Generation of a novel Dysferlin microdeletion knock-in mouse model mimicking muscular dystrophy-like pathology. [PDF]

Sci Rep
Chen YL, Lin WN, Pan PY, Ku WC, Wang P, Yip PK, Tsui KC, Wu YN, Lin YH.   +8 more
europepmc   +1 more source

Case Report: Pediatric immune-mediated necrotizing myopathies mimicking inherited muscle disorders: clinical, paraclinical, and genetic insights from two cases. [PDF]

Front Pediatr
Severa G, Cortes-Rojas MC, Gomez-Garcia de la Banda M, Belmondo T, Benezit A, Leturcq F, Verebi C, Periou B, Gallardo E, Cassandrini D, Gendre T, Hue S, Gitiaux C, Toubal N, Nouioua S, Boucher N, Bader-Meunier B, Authier FJ, Carlier RY, Quijano-Roy S, Malfatti E.   +20 more
europepmc   +1 more source

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases. [PDF]

Acta Myol
Mouloudi N, Kably B, Sefiani S, Birouk N.   +3 more
europepmc   +1 more source

Accumulation of membrane repair-associated proteins and mature myostatin are novel markers of muscle pathophysiology in Pompe disease. [PDF]

Acta Neuropathol Commun
Babarit C, Jagot S, Schleder C, Deniaud J, Bourgeton T, Lagalice L, Vezzana L, Leroux I, Lardenois A, Evrard B, Dubreil L, Amiaud J, Verrecchia F, Thorin C, Mayeuf-Louchart A, Rouger K, Colle MA, LYSAUMI Consortium.   +17 more
europepmc   +1 more source

Severe hyperCKaemia and decreased sarcolemmal dysferlin in VRK1-associated distal spinal muscular atrophy: a case report. [PDF]

BMJ Neurol Open
Siriniwasa H, Stirling MJL, Kean S, Pamphlett R, Silsby M.   +4 more
europepmc   +1 more source