Results 31 to 40 of about 4,506 (155)

Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders

Skeletal Muscle, 2011
Background Investigations into both the pathophysiology and therapeutic targets in muscle dystrophies have been hampered by the limited proliferative capacity of human myoblasts.
Mamchaoui Kamel, Trollet Capucine, Bigot Anne, Negroni Elisa, Chaouch Soraya, Wolff Annie, Kandalla Prashanth K, Marie Solenne, Di Santo James, St Guily Jean, Muntoni Francesco, Kim Jihee, Philippi Susanne, Spuler Simone, Levy Nicolas, Blumen Sergiu C, Voit Thomas, Wright Woodring E, Aamiri Ahmed, Butler-Browne Gillian, Mouly Vincent   +20 more
doaj   +1 more source

The muscle protein dysferlin accumulates in the Alzheimer brain [PDF]

, 2006
Dysferlin is a transmembrane protein that is highly expressed in muscle. Dysferlin mutations cause limb-girdle dystrophy type 2B, Miyoshi myopathy and distal anterior compartment myopathy. Dysferlin has also been described in neural tissue.
James E. Galvin, Divya Palamand, Jeff Strider, Margherita Milone, Alan Pestronk, M Aoki, V Askanas, D Bansal, D Bansal, R Bashir, S Britton, B Caughey, G Cenacchi, DB Davis, B Dermaut, KR Doherty, JE Galvin, JE Galvin, JE Galvin, JE Galvin, JE Galvin, M Goedert, YK Hayashi, M Ho, M Ho, EP Hoffman, PJ Holzfeind, I Illa, Y Ling, G McKhann, JC Morris, S Salani, MC Sharma, MG Spillantini, S Yasunaga   +34 more
core   +1 more source

Whole Transcriptome Analysis (RNA Sequencing) of Peripheral Blood Mononuclear Cells of Vitiligo Patients

Dermatopathology, 2014
Vitiligo is an idiopathic disorder characterized by depigmented patches on the skin due to a loss of melanocytes. The cause of melanocyte destruction is not fully understood.
E. Reimann, K. Kingo, M. Karelson, P. Reemann, E. Vasar, H. Silm, S. Kõks   +6 more
doaj   +1 more source

Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy [PDF]

, 2015
BACKGROUND: Anoctamin 5 (ANO5) is a member of a conserved gene family (TMEM16), which codes for proteins predicted to have eight transmembrane domains and putative Ca(2+)-activated chloride channel (CaCC) activity. It was recently reported that mutations
Jing Xu, Kyle Floyd, Li Xu, Lixia Zhao, Mona El Refaey, Paul M. L. Janssen, Renzhi Han, Tallib Karaze, Yandi Gao   +8 more
core   +1 more source

Phenotypic Drug Screening for Dysferlinopathy Using Patient‐Derived Induced Pluripotent Stem Cells

Stem Cells Translational Medicine, 2019
Dysferlinopathy is a progressive muscle disorder that includes limb‐girdle muscular dystrophy type 2B and Miyoshi myopathy (MM). It is caused by mutations in the dysferlin (DYSF) gene, whose function is to reseal the muscular membrane.
Yuko Kokubu, Tomoko Nagino, Katsunori Sasa, Tatsuo Oikawa, Katsuya Miyake, Akiko Kume, Mikiko Fukuda, Hiromitsu Fuse, Ryuichi Tozawa, Hidetoshi Sakurai   +9 more
doaj   +1 more source

Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report

BMC Pediatrics, 2022
Background Dysferlinopathy refers to a heterogenous group of autosomal recessive disorders that affect a skeletal muscle protein called dysferlin. These mutations are associated with limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, asymptomatic ...
Jason Katz, Anatalia Labilloy, Andrew Lee   +2 more
doaj   +1 more source

Cholesterol absorption blocker ezetimibe prevents muscle wasting in severe dysferlin‐deficient and mdx mice

Journal of Cachexia, Sarcopenia and Muscle, 2022
Background Muscular dystrophy (MD) causes muscle wasting and is often lethal in patients due to a lack of proven therapies. In contrast, mouse models of MD are notoriously mild. We have previously shown severe human‐like muscle pathology in mdx [Duchenne
Zoe White, Marine Theret, Nadia Milad, Lin Wei Tung, William Wei‐Han Chen, Martin G. Sirois, Fabio Rossi, Pascal Bernatchez   +7 more
doaj   +1 more source

Physiology of respiratory disturbances in muscular dystrophies [PDF]

, 2016
Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e.
Aliverti, Andrea, Lo Mauro, Maria Antonella   +1 more
core   +2 more sources

Effects of Prednisone on a Patient with Dysferlinopathy Assessed by Maximal Voluntary Isometric Contraction: Alternate-Day Low-Dose Administration for a 17-Year Period

Case Reports in Neurology, 2019
Glucocorticoids are candidates for the pharmacological treatment of dysferlinopathy. Deflazacort, however, showed a worse effect on muscle strength than placebo.
Keiichi Takahashi
doaj   +1 more source

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. [PDF]

, 2015
BACKGROUND: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. METHODS: We evaluated clinical and genetic patient data from three different
Fischer, D., Huebner, A., Jung, H.H., Kana, V., Kress, W., Kuntzer, T., Lobrinus, J.A., Petersen, J.A., Rushing, E.J., Sinnreich, M., von der Hagen, M.   +10 more
core   +3 more sources