Results 201 to 210 of about 6,430 (245)

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
openaire   +3 more sources

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, Jerome Polentes, Manon Benabides, Noella Grossi, Anne Bigot, Anthony Brureau, Isabelle Richard, X. Nissan   +10 more
semanticscholar   +1 more source

Age- & Muscle-specific Patterns of Dysferlin Expression in Rats Suggest Role in Injury Response

Physiology
Background: Muscle cells employ a robust membrane injury response to maintain cell homeostasis, prevent muscle degeneration and minimize fibrosis (1-3). One protein often listed as a key element in this response is dysferlin (4, 5).
Noah L Weisleder, David W. Russ
semanticscholar   +1 more source

Dysferlin, dystrophy, and dilatative cardiomyopathy

Journal of Molecular Medicine, 2007
The muscular dystrophies are a heterogeneous group of inherited disorders featuring progressive muscle weakness and atrophy. After the discovery of dystrophin, remarkable progress was made in defining the molecular properties of various proteins involved in the muscular dystrophies.
openaire   +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   +3 more sources

Structural and ultrastructural changes in the skeletal muscles of dysferlin-deficient mice during postnatal ontogenesis

Ultrastructural Pathology, 2022
A number of sarcolemma proteins are responsible for muscle fiber repair. Dysferlin encoded by the DYSF gene is one of these proteins. Dysferlin promotes membrane repair in striated muscle fibers (MFs).
O. N. Chernova, I. Chekmareva, M. Mavlikeev, I. A. Yakovlev, A. P. Kiyasov, R. V. Deev   +5 more
semanticscholar   +1 more source

Thermoneutral Housing and a Western Diet Combination Exacerbates Dysferlin‐Deficient Muscular Dystrophy

Muscle and Nerve, 2022
Most mouse models of muscular dystrophy (MD) show mild phenotypes, which limits the translatability of experimental therapies to patients. A growing body of evidence suggests that MD is accompanied by metabolic abnormalities that could potentially ...
Graham Donen, Z. White, Elodie Sauge, M. Ritso, M. Théret, J. Boyd, A. Devlin, F. Rossi, P. Bernatchez   +8 more
semanticscholar   +1 more source

Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms

Human Genetics, 2009
In conducting dysferlin mutational screening using blood mRNA instead of genomic DNA, we identified the occurrence of alternative splicing involving novel dysferlin exons, i.e. exons 5a and 40a, in addition to previously reported alternative splicing of exon 17.
Pramono, Z.A.D., Yee, W.C., Tan, C.L., Seah, I.A.L., See, J.S.L., Kam, S.Y., Lai, P.S.   +6 more
openaire   +2 more sources

Calcium binds and rigidifies the dysferlin C2A domain in a tightly coupled manner.

Biochemical Journal, 2021
The membrane protein dysferlin (DYSF) is important for calcium-activated plasma membrane repair, especially in muscle fibre cells. Nearly 600 mutations in the DYSF gene have been identified that are causative for rare genetic forms of muscular dystrophy.
Yuning Wang, R. Tadayon, L. Santamaria, P. Mercier, C. Forristal, G. Shaw   +5 more
semanticscholar   +1 more source

Muscular dystrophy in dysferlin-deficient mouse models

Neuromuscular Disorders, 2013
Mutations in the dysferlin gene result in the development of a range of early adult-onset, progressive muscular dystrophies, collectively known as the dysferlinopathies. There is currently no effective treatment for these disorders. Several spontaneous and engineered alleles at the mouse dysferlin locus have been isolated and these dysferlin-deficient ...
Mark A, Hornsey, Steven H, Laval, Rita, Barresi, Hanns, Lochmüller, Kate, Bushby   +4 more
openaire   +2 more sources