Results 61 to 70 of about 4,634 (224)

Proteasome inhibitors increase missense mutated dysferlin in patients with muscular dystrophy [PDF]

, 2014
No treatment is available for patients affected by the recessively inherited, progressive muscular dystrophies caused by a deficiency in the muscle membrane repair protein dysferlin.
Di Fulvio, S., Azakir, B. A., Erne, B., Stirnimann, Guido, Sinnreich, M.   +4 more
core   +1 more source

Treatment with galectin-1 improves myogenic potential and membrane repair in dysferlin-deficient models.

PLoS ONE, 2020
Limb-girdle muscular dystrophy type 2B (LGMD2B) is caused by mutations in the dysferlin gene, resulting in non-functional dysferlin, a key protein found in muscle membrane.
Mary L Vallecillo-Zúniga, Matthew F Rathgeber, P Daniel Poulson, Spencer Hayes, Jacob S Luddington, Hailie N Gill, Matthew Teynor, Braden C Kartchner, Jonard Valdoz, Caleb Stowell, Ashley R Markham, Connie Arthur, Sean Stowell, Pam M Van Ry   +13 more
doaj   +1 more source

609. Systemic Delivery of Dysferlin Overlap Vectors Mediates Functional Recovery of Dysferlin Deficiency [PDF]

Molecular Therapy, 2015
Dysferlinopathies comprise a family of disorders caused by mutations in the dysferlin (DYSF) gene leading to absent or mutant protein. Dysferlin protein has been implicated in multiple functional roles specifically in membrane stabilization/repair, t-tubule formation and vesicle trafficking.
Sondergaard, Patricia C., Griffin, Danielle A., Pozsgai, Eric R., Johnson, Ryan, Shontz, Kim, Mendell, Jerry R., Rodmo-Klapac, Louise R.   +6 more
openaire   +1 more source

Dysferlin Regulates Cell Adhesion in Human Monocytes [PDF]

Journal of Biological Chemistry, 2013
Dysferlin is mutated in a group of muscular dystrophies commonly referred to as dysferlinopathies. It is highly expressed in skeletal muscle, where it is important for sarcolemmal maintenance. Recent studies show that dysferlin is also expressed in monocytes.
Morree, A. de, Flix, B., Bagaric, I., Wang, J., Boogaard, M. van den, Moursel, L.G., Frants, R.R., Illa, I., Gallardo, E., Toes, R., Maarel, S.M. van der   +10 more
openaire   +4 more sources

FRET analyses of adult FDB muscle fibers transfected with CFP-dysferlin and YFP-dysferlin. [PDF]

, 2013
(A) CFP-dysferlin and YFP-dysferlin fluorescence images before (Prebleach) and after (Postbleach) YFP-selective photobleaching. Scale bar: 20 µm. (B) Linear relationship between CFP-dysferlin and YFP-dysferlin fluorescence suggests dysferlin forms a ...
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

Myopathy With Exercise-Induced Intolerance due to Novel Biallelic Variants in OBSCN-A Clinical, Morphological and Molecular Analysis. [PDF]

Neuropathol Appl Neurobiol
The phenotype of OBSCN variants consists of exercise intolerance ranging from myalgia and cramps to rhabdomyolysis. Symptoms are mainly induced by high‐intensity sports. Molecular analysis showing a deregulation of muscle processes associated with Ca2+ regulation, extrasarcolemmal integrity and autophagy emphasised the critical role of obscurin in ...
Krämer-Best HH, Reis MC, Hentschel A, Weiß M, Schaiter A, Böhm KD, Roos A, Nolte D, Schänzer A.   +8 more
europepmc   +2 more sources

DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B

Molecular Therapy: Methods & Clinical Development, 2017
Mutations in the gene for dysferlin cause a degenerative disorder of skeletal muscle known as limb girdle muscular dystrophy 2B. To achieve gene delivery of plasmids encoding dysferlin to hind limb muscles of dysferlin knockout mice, we used a vascular ...
Julia Ma, Christophe Pichavant, Haley du Bois, Mital Bhakta, Michele P. Calos   +4 more
doaj   +1 more source

Dysferlin binds to microtubules. [PDF]

, 2013
His-myc-dysferlin purified on Ni-NTA beads was incubated with polymerized microtubules. Reactions were resolved by SDS-PAGE stained with SimplyBlue SafeStain. Arrows point to His-myc-dysferlin, tubulin, BSA, and to MAP1&MAP2 of the microtubule-associated
Bilal A. Azakir (192892), Christian Therrien (192897), Michael Sinnreich (192902), Sabrina Di Fulvio (192887)   +3 more
core   +1 more source

Mechanisms of Endothelial Cell Membrane Repair: Progress and Perspectives

Cells, 2023
Endothelial cells are the crucial inner lining of blood vessels, which are pivotal in vascular homeostasis and integrity. However, these cells are perpetually subjected to a myriad of mechanical, chemical, and biological stresses that can compromise ...
Duoduo Zha, Shizhen Wang, Paula Monaghan-Nichols, Yisong Qian, Venkatesh Sampath, Mingui Fu   +5 more
doaj   +1 more source

High‐throughput screening identifies bazedoxifene as a potential therapeutic for dysferlin‐deficient limb girdle muscular dystrophy

British Journal of Pharmacology
Limb‐girdle muscular dystrophy R2 (LGMD R2) is a rare genetic disorder characterised by progressive weakness and wasting of proximal muscles. LGMD R2 is caused by the loss of function of dysferlin, a transmembrane protein crucial for plasma membrane ...
Celine Bruge, N. Bourg, Emilie Pellier, Johana Tournois, Jérôme Polentes, Manon Benabides, Noella Grossi, Anne Bigot, Anthony Brureau, Isabelle Richard, X. Nissan   +10 more
semanticscholar   +1 more source