Results 41 to 50 of about 2,422 (183)

Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy

Molecular Therapy: Nucleic Acids, 2018
Dysferlinopathy is a progressive myopathy caused by mutations in the dysferlin (DYSF) gene. Dysferlin protein plays a major role in plasma-membrane resealing.
Joshua J.A. Lee, Rika Maruyama, William Duddy, Hidetoshi Sakurai, Toshifumi Yokota   +4 more
doaj   +1 more source

Genetic screen in Drosophila muscle identifies autophagy-mediated T-tubule remodeling and a Rab2 role in autophagy. [PDF]

, 2017
Transverse (T)-tubules make-up a specialized network of tubulated muscle cell membranes involved in excitation-contraction coupling for power of contraction. Little is known about how T-tubules maintain highly organized structures and contacts throughout
Fujita, Naonobu, Fukuda, Mitsunori, Groulx, Jean-Francois, Huang, Wilson, Jean, Steve, Kiger, Amy A, Koyama-Honda, Ikuko, Kuchitsu, Yoshihiko, Lin, Tzu-Han, Mizushima, Noboru, Nguyen, Jen   +10 more
core   +2 more sources

Rhabdomyolysis: a genetic perspective [PDF]

, 2015
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Alice R Gardiner, Edmar Zanoteli, Heinz Jungbluth, Henry Houlden, Janice L Holton, Jefferson Becker, Renata Siciliani Scalco, Robert DS Pitceathly, Ros Quinlivan   +8 more
core   +4 more sources

Dysferlinopathy: A Case Report and Literature Update

İstanbul Medical Journal, 2016
Dysferlinopathy is a rare autosomal recessive myopathy, resulting in the lack or absence of dysferlin production caused by mutations in the encoding gene.
Orkide Kutlu, Can Ebru Bekircan Kurt, İbrahim Ünsal, Zeynep Arıbaş, Bilge Renkliyıldız, Hasan Eruzun, Ayşe Duran Karagülmez, Sevim Erdem Özdamar   +7 more
doaj   +1 more source

Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer. [PDF]

PLoS ONE, 2012
The dysferlinopathies comprise a group of untreatable muscle disorders including limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment syndrome, and rigid spine syndrome.
William E Grose, K Reed Clark, Danielle Griffin, Vinod Malik, Kimberly M Shontz, Chrystal L Montgomery, Sarah Lewis, Robert H Brown, Paul M L Janssen, Jerry R Mendell, Louise R Rodino-Klapac   +10 more
doaj   +1 more source

The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands [PDF]

, 1996
A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and heterogeneous entity of limb girdle muscular dystrophy (LGMD).
Bakker, E. (Egbert), Barth, P.G. (Peter), Bolhuis, P.A. (P.), Busch, H.F.M. (Herman), Essen, J.A. (Anthonie) van, Ginjaar, I.B. (Ieke), Haan, R.J. (Rob) de, Hooff, L.J.M.A. (L. J M A) van, Höweler, C.J. (Chris), Jennekens, F.G.I. (Frans G.), Jongen, P. (P.), Kooj, A.J. (Anneke), Ommen, G.J. (Gert) van, Oosterhuis, H.J.G.H. (H. J G H), Padberg, B. (Barbara), Spaans, F. (F.), Visser, M. (Marianne) de, Wintzen, A.R. (Axel), Wokke, J.H.J. (John)   +18 more
core   +1 more source

Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy

Frontiers in Neurology, 2020
Practice of sports during childhood or adolescence correlates with an earlier onset and more rapidly progressing phenotype in dysferlinopathies. To determine if this correlation relates to greater muscle pathology that persists into adulthood, we ...
Ursula Moore, Marni Jacobs, Marni Jacobs, Roberto Fernandez-Torron, Roberto Fernandez-Torron, Jaume LLauger Rossello, Fiona E. Smith, Meredith James, Anna Mayhew, Laura Rufibach, Pierre G. Carlier, Andrew M. Blamire, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub, Jordi Diaz-Manera, Jordi Diaz-Manera, Jordi Diaz-Manera   +30 more
doaj   +1 more source

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy [PDF]

, 2016
Peer ...
Auranen, Mari, Kiuru-Enari, Sari, Kousi, Maria, Lamminen, Antti, Lehesjoki, Anna-Elina, Löfberg, Mervi, Mahjneh, Ibrahim, Muurinen , Tiina, Paetau, Anders, Piirilä, Päivi, Salmi, Tapani, Träskelin, Ann-Liz, Ylikallio, Emil   +12 more
core   +1 more source

Analysis on clinical phenotype and gene mutation of three cases of dysferlinopathy in two families

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To investigate clinical phenotype and gene mutation of dysferlinopathy. Methods The clinical manifestations, laboratory, imaging, neurophysiological examinations, myopathology and genetic test of 3 patients with dysferlinopathy in 2 Chinese ...
Hui-li ZHANG, Ze LI, Qiu-sheng CHENG, Xi CHEN, Yu-ling ZHU, Ya-qin LI, Meng-long CHEN, Cheng ZHANG   +7 more
doaj   +1 more source

Pyrrolidine-based cationic γ-peptide: a DNA-binding molecule works as a potent anti-gene agent [PDF]

, 2022
Pyrrolidine-based cationic peptides showing high stability to enzyme degradation and strong binding affinity towards DNA are widely investigated as tools to interfere in gene expression.
Preetham, H. D., Rangappa, K. S., Sharath Kumar, K. S., Shobith, R., Umashankara, M.   +4 more
core   +2 more sources