| Published Application/Species/Sample/Dilution | Reference |
|---|
- immunohistochemistry - frozen section; human; loading ...
- western blot; human; loading ...
| Papadopoulos C, Laforet P, Nectoux J, Stojkovic T, Wahbi K, Carlier R, et al. Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients. Muscle Nerve. 2017;56:1096-1100 pubmed publisher |
- western blot; mouse; 1:1000; loading ...; fig 1d
| Vila M, Rayavarapu S, Hogarth M, van der Meulen J, Horn A, Defour A, et al. Mitochondria mediate cell membrane repair and contribute to Duchenne muscular dystrophy. Cell Death Differ. 2017;24:330-342 pubmed publisher |
- western blot; human; fig 3
| Toral Ojeda I, Aldanondo G, Lasa Elgarresta J, Lasa Fernández H, Fernandez Torron R, Lopez de Munain A, et al. Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle. Expert Rev Mol Med. 2016;18:e7 pubmed publisher |
- western blot; human; 1:200; fig 1
| Pryadkina M, Lostal W, Bourg N, Charton K, Roudaut C, Hirsch M, et al. A comparison of AAV strategies distinguishes overlapping vectors for efficient systemic delivery of the 6.2 kb Dysferlin coding sequence. Mol Ther Methods Clin Dev. 2015;2:15009 pubmed publisher |
| Guha T, Pichavant C, Calos M. Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy. Mol Ther Methods Clin Dev. 2019;15:294-304 pubmed publisher |
| Xu J, El Refaey M, Xu L, Zhao L, Gao Y, Floyd K, et al. Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy. Skelet Muscle. 2015;5:43 pubmed publisher |
| Lo H, Nixon S, Hall T, Cowling B, Ferguson C, Morgan G, et al. The caveolin-cavin system plays a conserved and critical role in mechanoprotection of skeletal muscle. J Cell Biol. 2015;210:833-49 pubmed publisher |
| Sondergaard P, Griffin D, Pozsgai E, Johnson R, Grose W, Heller K, et al. AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models. Ann Clin Transl Neurol. 2015;2:256-70 pubmed publisher |
| Dominov J, Uyan O, Sapp P, McKenna Yasek D, Nallamilli B, Hegde M, et al. A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides. Ann Clin Transl Neurol. 2014;1:703-20 pubmed publisher |
| Mahmood O, Jiang X, Zhang Q. Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China. Neural Regen Res. 2013;8:1907-18 pubmed publisher |
| Kanagawa M, Lu Z, Ito C, Matsuda C, Miyake K, Toda T. Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy. PLoS ONE. 2014;9:e106721 pubmed publisher |
| Jørgensen L, Mosbech M, Færgeman N, Graakjaer J, Jacobsen S, Schrøder H. Duplication in the microtubule-actin cross-linking factor 1 gene causes a novel neuromuscular condition. Sci Rep. 2014;4:5180 pubmed publisher |
| Pesciotta E, Sriswasdi S, Tang H, Speicher D, Mason P, Bessler M. Dysferlin and other non-red cell proteins accumulate in the red cell membrane of Diamond-Blackfan Anemia patients. PLoS ONE. 2014;9:e85504 pubmed publisher |
| Tanaka A, Woltjen K, Miyake K, Hotta A, Ikeya M, Yamamoto T, et al. Efficient and reproducible myogenic differentiation from human iPS cells: prospects for modeling Miyoshi Myopathy in vitro. PLoS ONE. 2013;8:e61540 pubmed publisher |
| Blandin G, Marchand S, Charton K, Daniele N, Gicquel E, Boucheteil J, et al. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Skelet Muscle. 2013;3:3 pubmed publisher |
| Leung C, Shaheen F, Bernatchez P, Hackett T. Expression of myoferlin in human airway epithelium and its role in cell adhesion and zonula occludens-1 expression. PLoS ONE. 2012;7:e40478 pubmed publisher |
| Grose W, Clark K, Griffin D, Malik V, Shontz K, Montgomery C, et al. Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer. PLoS ONE. 2012;7:e39233 pubmed publisher |
| Lostal W, Bartoli M, Roudaut C, Bourg N, Krahn M, Pryadkina M, et al. Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. PLoS ONE. 2012;7:e38036 pubmed publisher |
| Gallardo E, De Luna N, Diaz Manera J, Rojas García R, González Quereda L, Flix B, et al. Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. PLoS ONE. 2011;6:e29061 pubmed publisher |
| Jethwaney D, Islam M, Leidal K, de Bernabe D, Campbell K, Nauseef W, et al. Proteomic analysis of plasma membrane and secretory vesicles from human neutrophils. Proteome Sci. 2007;5:12 pubmed |
