Results 11 to 20 of about 4,001 (193)

Dysferlin-peptides reallocate mutated dysferlin thereby restoring function. [PDF]

PLoS ONE, 2012
Mutations in the dysferlin gene cause the most frequent adult-onset limb girdle muscular dystrophy, LGMD2B. There is no therapy. Dysferlin is a membrane protein comprised of seven, beta-sheet enriched, C2 domains and is involved in Ca(2+)dependent ...
Verena Schoewel, Andreas Marg, Severine Kunz, Tim Overkamp, Romy Siegert Carrazedo, Ute Zacharias, Peter T Daniel, Simone Spuler   +7 more
doaj   +6 more sources

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. [PDF]

PLoS ONE, 2011
BackgroundDysferlinopathies are caused by mutations in the dysferlin gene (DYSF). Diagnosis is complex due to the high clinical variability of the disease and because dysferlin expression in the muscle biopsy may be secondarily reduced due to a primary ...
Eduard Gallardo, Noemi de Luna, Jordi Diaz-Manera, Ricardo Rojas-García, Lidia Gonzalez-Quereda, Bàrbara Flix, Antoine de Morrée, Silvère van der Maarel, Isabel Illa   +8 more
doaj   +10 more sources

Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice [PDF]

Acta Neuropathologica Communications, 2023
Dysferlin is a Ca2+-activated lipid binding protein implicated in muscle membrane repair. Recessive variants in DYSF result in dysferlinopathy, a progressive muscular dystrophy.
Joe Yasa, Claudia E. Reed, Adam M. Bournazos, Frances J. Evesson, Ignatius Pang, Mark E. Graham, Jesse R. Wark, Brunda Nijagal, Kim H. Kwan, Thomas Kwiatkowski, Rachel Jung, Noah Weisleder, Sandra T. Cooper, Frances A. Lemckert   +13 more
doaj   +5 more sources

Modular Dispensability of Dysferlin C2 Domains Reveals Rational Design for Mini-dysferlin Molecules [PDF]

Journal of Biological Chemistry, 2012
Dysferlin is a large transmembrane protein composed of a C-terminal transmembrane domain, two DysF domains, and seven C2 domains that mediate lipid- and protein-binding interactions. Recessive loss-of-function mutations in dysferlin lead to muscular dystrophies, for which no treatment is currently available.
Azakir, B. A., Di Fulvio, S., Salomon, S., Brockhoff, M., Therrien, C., Sinnreich, M.   +5 more
openaire   +8 more sources

Dystrophin deficiency exacerbates skeletal muscle pathology in dysferlin-null mice [PDF]

Skeletal Muscle, 2011
Background Mutations in the genes coding for either dystrophin or dysferlin cause distinct forms of muscular dystrophy. Dystrophin links the cytoskeleton to the sarcolemma through direct interaction with β-dystroglycan.
Han Renzhi, Rader Erik P, Levy Jennifer R, Bansal Dimple, Campbell Kevin P   +4 more
doaj   +2 more sources

Lipid Accumulation in Dysferlin-Deficient Muscles

The American Journal of Pathology, 2014
Dysferlin is a membrane associated protein involved in vesicle trafficking and fusion. Defects in dysferlin result in limb-girdle muscular dystrophy type 2B and Miyoshi myopathy in humans and myopathy in A/J(dys-/-) and BLAJ mice, but the pathomechanism of the myopathy is not understood.
Grounds, M., Terrill, J., Crabb, Hannah, Robertson, Terry, Papadimitriou, J., Spuler, S., Shavlakadze, T.   +6 more
core   +5 more sources

A Novel Dysferlin-Binding Kinase CK2α Promotes Plasma Membrane Repair in Dysferlinopathy. [PDF]

FASEB J
When the cell membrane is injured, extracellular calcium enters the cell, triggering the accumulation of dysferlin at the lesion site. In the presence of dysferlin, CK2 is efficiently recruited to the damaged membrane and maintains its kinase activity through interaction with dysferlin.
Nakamura N, Suzuki N, Kanno SI, Yamanaka R, Ono H, Izumi R, Muliang R, Borgo C, Ohno A, Harada R, Saito S, Funayama Y, Ikeda K, Mitsuzawa S, Watanabe Y, Shijo T, Akiyama T, Takahashi T, Kanzaki M, Osana S, Warita H, Aoki Y, Ebihara S, Salvi M, Nagatomi R, Yasui A, Miyake K, Aoki M.   +27 more
europepmc   +2 more sources

Dysferlin‐deficient muscular dystrophy features amyloidosis

Annals of Neurology, 2008
AbstractObjectiveDysferlin (DYSF) gene mutations cause limb girdle muscular dystrophy type 2B and Miyoshi's myopathy. The consequences of DYSF mutations on protein structure are poorly understood.MethodsThe gene encoding dysferlin was sequenced in patients with suspected dysferlin‐deficient muscular dystrophy.
Spuler S, Carl M, Zabojszcza J, Straub V, Bushby K, Moore SA, Bähring S, Wenzel K, Vinkemeier U, Rocken C   +9 more
openaire   +4 more sources

Enhancing the Performance of a Blood-Based Diagnostic Screening Tool for Dysferlinopathy: Optimising an Immunoassay Across Continents. [PDF]

Neuropathol Appl Neurobiol
We validated an immunohistochemical method for detecting dysferlin in neutrophils from peripheral blood films (PBFs), offering a minimally invasive alternative to muscle biopsy. In an Indian cohort, the assay showed 100% sensitivity. Specificity depended on sample quality and storage conditions.
D'Este G, Cox D, Maistrello L, Emmons SS, Gaitonde P, Dastur R, Barresi R.   +6 more
europepmc   +2 more sources

The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions

Frontiers in Cell and Developmental Biology, 2021
Dysferlinopathies are a group of muscular dystrophies caused by recessive mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is a transmembrane protein involved in several muscle functions like T-tubule maintenance and membrane repair ...
Océane Ballouhey, Sébastien Courrier, Virginie Kergourlay, Svetlana Gorokhova, Svetlana Gorokhova, Mathieu Cerino, Mathieu Cerino, Martin Krahn, Martin Krahn, Nicolas Lévy, Nicolas Lévy, Nicolas Lévy, Marc Bartoli   +12 more
doaj   +1 more source