Results 31 to 40 of about 56,717 (273)

Low dystrophin variability between muscles and stable expression over time in Becker muscular dystrophy using capillary Western immunoassay

Scientific Reports, 2021
Becker muscular dystrophy (BMD) is the milder allelic variant of Duchenne muscular dystrophy, with higher dystrophin levels. To anticipate on results of interventions targeting dystrophin expression it is important to know the natural variation of ...
Z. Koeks, A. A. Janson, C. Beekman, M. Signorelli, H. A. van Duyvenvoorde, J. C. van den Bergen, M. T. Hooijmans, I. Alleman, I. M. Hegeman, J. J. G. M. Verschuuren, J. C. v. Deutekom, P. Spitali, N. A. Datson, E. H. Niks   +13 more
doaj   +1 more source

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [PDF]

, 2010
Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Arechavala-Gomeza, V, Bushby, K, Edge, G, Feng, L, Guglieri, M, Hunt, D, Kinali, M, Lehovsky, J, Main, M, Morgan, JE, Muntoni, F, Sewry, CA, Straub, V   +12 more
core   +1 more source

Muscle-specific CRISPR/Cas9 dystrophin gene editing ameliorates pathophysiology in a mouse model for Duchenne muscular dystrophy

Nature Communications, 2017
Gene replacement therapies utilizing adeno-associated viral (AAV) vectors hold great promise for treating Duchenne muscular dystrophy (DMD). A related approach uses AAV vectors to edit specific regions of the DMD gene using CRISPR/Cas9.
N. Bengtsson, John K. Hall, G. Odom, Michael P. Phelps, Colin R. Andrus, R. D. Hawkins, S. Hauschka, J. Chamberlain, J. Chamberlain   +8 more
semanticscholar   +1 more source

Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy [PDF]

, 2013
Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease ...
De Bleecker, Jan, De Paepe, Boel
core   +3 more sources

Pathological evaluation of rats carrying in-frame mutations in the dystrophin gene: a new model of Becker muscular dystrophy

Disease Models & Mechanisms, 2020
Dystrophin, encoded by the DMD gene on the X chromosome, stabilizes the sarcolemma by linking the actin cytoskeleton with the dystrophin-glycoprotein complex (DGC).
Naomi Teramoto, Hidetoshi Sugihara, Keitaro Yamanouchi, Katsuyuki Nakamura, Koichi Kimura, Tomoko Okano, Takanori Shiga, Taku Shirakawa, Masafumi Matsuo, Tetsuya Nagata, Masao Daimon, Takashi Matsuwaki, Masugi Nishihara   +12 more
doaj   +1 more source

Blastocyst injection of wild type embryonic stem cells induces global corrections in mdx mice. [PDF]

PLoS ONE, 2009
Duchenne muscular dystrophy (DMD) is an incurable neuromuscular degenerative disease, caused by a mutation in the dystrophin gene. Mdx mice recapitulate DMD features.
Elizabeth Stillwell, Joseph Vitale, Qingshi Zhao, Amanda Beck, Joel Schneider, Farah Khadim, Genie Elson, Aneela Altaf, Ghassan Yehia, Jia-hui Dong, Jing Liu, Willie Mark, Mantu Bhaumik, Robert Grange, Diego Fraidenraich   +14 more
doaj   +1 more source

Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy

Molecular Therapy: Nucleic Acids, 2022
Duchenne muscular dystrophy (DMD) is a devastating muscle-wasting disease that arises due to the loss of dystrophin expression, leading to progressive loss of motor and cardiorespiratory function.
Liubov V. Gushchina, Tatyana A. Vetter, Emma C. Frair, Adrienne J. Bradley, Kelly M. Grounds, Jacob W. Lay, Nianyuan Huang, Aisha Suhaiba, Frederick J. Schnell, Gunnar Hanson, Tabatha R. Simmons, Nicolas Wein, Kevin M. Flanigan   +12 more
doaj   +1 more source

Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy

Molecular Neurobiology, 2019
Duchenne muscular dystrophy (DMD) is caused by frameshift mutations in the DMD gene that prevent the body-wide translation of its protein product, dystrophin.
Michael Naidoo, K. Anthony
semanticscholar   +1 more source

Dystrophin gene expression and intracellular calcium changes in the giant freshwater prawn, Macrobrachium rosenbergii, in response to white spot symptom disease infection

Heliyon, 2017
Background: Dystrophin, an essential protein functional in the maintenance of muscle structural integrity is known to be responsible for muscle deterioration during white spot syndrome virus (WSSV) infection among prawn species.
Anees Fathima Noor, Tze Chiew Christie Soo, Farhana Mohd Ghani, Zee Hong Goh, Li Teng Khoo, Subha Bhassu   +5 more
doaj   +1 more source

EGFR-Aurka Signaling Rescues Polarity and Regeneration Defects in Dystrophin-Deficient Muscle Stem Cells by Increasing Asymmetric Divisions.

Cell Stem Cell, 2019
Loss of dystrophin expression in Duchenne muscular dystrophy (DMD) causes progressive degeneration of skeletal muscle, which is exacerbated by reduced self-renewing asymmetric divisions of muscle satellite cells.
Yu Xin Wang, Peter Feige, Caroline E. Brun, Bahareh Hekmatnejad, Nicolas A. Dumont, J. Renaud, S. Faulkes, Daniel E. Guindon, M. Rudnicki   +8 more
semanticscholar   +1 more source