Results 21 to 30 of about 4,634 (224)

Metabolic dysregulation contributes to the development of dysferlinopathy [PDF]

Life Science Alliance
Dysferlin deficiency causes metabolic dysregulation, characterized by mitochondrial abnormalities, death signaling, and elevated glucose uptake and excessive glycogen accumulation in muscle.
Regula Furrer, Sedat Dilbaz, Stefan A Steurer, Gesa Santos, Bettina Karrer-Cardel, Danilo Ritz, Michael Sinnreich, Christoph Handschin   +7 more
doaj   +2 more sources

Lipid Accumulation in Dysferlin-Deficient Muscles [PDF]

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   +4 more sources

Insights into the heterogeneous muscle lipidome of dysferlin-deficient mice: effects of age, muscle type, and sex

Skeletal Muscle
Dysferlinopathy is an age-dependent muscular dystrophy caused by loss of the membrane-associated protein dysferlin. Disease severity increases with age and selectively affects specific muscle groups, yet the molecular basis for this vulnerability remains
Stacey N. Keenan, Jackie Bayliss, Olivia Lee, Erin M. Lloyd, Peter J. Meikle, Miranda D. Grounds, Matthew J. Watt   +6 more
doaj   +2 more sources

Elevated Ca2+ at the triad junction underlies dysregulation of Ca2+ signaling in dysferlin-null skeletal muscle

Frontiers in Physiology, 2022
Dysferlin-null A/J myofibers generate abnormal Ca2+ transients that are slightly reduced in amplitude compared to controls. These are further reduced in amplitude by hypoosmotic shock and often appear as Ca2+ waves (Lukyanenko et al., J. Physiol., 2017).
Valeriy Lukyanenko, Joaquin Muriel, Daniel Garman, Daniel Garman, Leonid Breydo, Robert J. Bloch   +5 more
doaj   +2 more sources

Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb‐girdle muscular dystrophy

Physiological Reports, 2023
Muscular dystrophy (MD) is a genetic disorder that causes progressive muscle weakness and degeneration. Limb‐girdle muscular dystrophy (LGMD) is a type of MD that mainly causes muscle atrophy within the shoulder and pelvic girdles.
Yen‐Lin Chen, Wen‐Bin Wu, Pei Wang, Ping‐Keung Yip, Yi‐No Wu, Ying‐Hung Lin, Wei‐Ning Lin   +6 more
doaj   +2 more sources

Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice

Skeletal Muscle, 2022
Limb-girdle muscular dystrophy (MD) type 2B (LGMD2B) and Duchenne MD (DMD) are caused by mutations to the Dysferlin and Dystrophin genes, respectively. We have recently demonstrated in typically mild dysferlin- and dystrophin-deficient mouse models that ...
Zoe White, Zeren Sun, Elodie Sauge, Dan Cox, Graham Donen, Dmitri Pechkovsky, Volker Straub, Gordon A. Francis, Pascal Bernatchez   +8 more
doaj   +2 more sources

Dysferlin Enables Tubular Membrane Proliferation in Cardiac Hypertrophy [PDF]

Circulation Research
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.
N. Paulke, C. Fleischhacker, J. B. Wegener, G. Riedemann, C. Cretu, Mufassra Mushtaq, N. Zaremba, Wiebke Möbius, Yannik Zühlke, Jasper Wedemeyer, Lorenz Liebmann, Anastasiia Gorshkova, D. Kownatzki-Danger, E. Wagner, Tobias Kohl, C. Wichmann, Olaf Jahn, Henning Urlaub, K. Toischer, Gerd Hasenfuss, T. Moser, Julia Preobraschenski, C. Lenz, Eva A. Rog-Zielinska, S. E. Lehnart, S. Brandenburg   +25 more
semanticscholar   +2 more sources

Dysferlin‐deficient muscular dystrophy features amyloidosis [PDF]

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

Dysferlinopathy as cause of long-term hyperCKemia with preserved strength [PDF]

Orphanet Journal of Rare Diseases
Background Dysferlin (DYSF) has a crucial role in sarcolemmal repair. While DYSF mutations commonly manifest as limb-girdle muscular dystrophy (LGMDR2) or distal Miyoshi myopathy, atypical manifestations, such as asymptomatic hyperCKemia and ...
Ikreet Cheema, Jacob Goodwin, Teerin Liewluck, Robert Charles Bucelli, Alan Pestronk, Margherita Milone   +5 more
doaj   +2 more sources

Improved Genotyping Of The Dysferlin Null Mouse [PDF]

, 2015
The dysferlin-null mouse line that we generated has been an invaluable tool for exploring the function of dysferlin and studying the pathogenesis of dysferlin-deficient muscular dystrophy (1-3). The complete absence of dysferlin protein in this mouse model has been demonstrated by both Western blot and immunofluorescence analyses of skeletal muscle and
sprotocols
openaire   +3 more sources