Results 41 to 50 of about 35,595 (240)

Dystrophin expression in muscle stem cells regulates their polarity and asymmetric division

Nature Network Boston, 2015
Dystrophin is expressed in differentiated myofibers, in which it is required for sarcolemmal integrity, and loss-of-function mutations in the gene that encodes it result in Duchenne muscular dystrophy (DMD), a disease characterized by progressive and ...
Nicolas A. Dumont, Yu Xin Wang, J. V. Maltzahn, Alessandra Pasut, C., Florian Bentzinger, Caroline E. Brun, M. Rudnicki   +7 more
semanticscholar   +1 more source

Use of capillary Western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy

PLoS ONE, 2018
Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by progressive weakness of the skeletal and cardiac muscles. This X-linked disorder is caused by open reading frame disrupting mutations in the DMD gene, resulting in strong ...
C. Beekman, A. Janson, A. Baghat, J. V. van Deutekom, N. Datson   +4 more
semanticscholar   +1 more source

Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin

Scientific Reports, 2021
Emerging and promising therapeutic interventions for Duchenne muscular dystrophy (DMD) are confounded by the challenges of quantifying dystrophin. Current approaches have poor precision, require large amounts of tissue, and are difficult to standardize ...
David P. Bishop, Mika T. Westerhausen, Florian Barthelemy, Thomas Lockwood, Nerida Cole, Elizabeth M. Gibbs, Rachelle H. Crosbie, Stanley F. Nelson, M. Carrie Miceli, Philip A. Doble, Jonathan Wanagat   +10 more
doaj   +1 more source

Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

Scientific Reports, 2017
Duchenne muscular dystrophy (DMD) is a muscular dystrophy with high incidence of learning and behavioural problems and is associated with neurodevelopmental disorders.
N. Doorenweerd, A. Mahfouz, M. van Putten, R. Kaliyaperumal, P. A. '. ‘t Hoen, J. Hendriksen, A. Aartsma-Rus, J. Verschuuren, E. Niks, M. Reinders, H. Kan, B. Lelieveldt   +11 more
semanticscholar   +1 more source

The interaction of actin with dystrophin

FEBS Letters, 1990
Proton NMR spectroscopy of synthetic peptides corresponding to defined regions of human dystrophin has been employed to study the interaction with F‐actin. No evidence of interaction with a C‐terminal region corresponding to amino acid residues 3429–3440 was obtained.
Barry A. Levine, Arthur J. G. Moir, Valerie B. Patchell, S. V. Perry   +3 more
openaire   +3 more sources

Potent Dystrophin knock-Down in Vitro and in Vivo Using RNAi Technonlogy and Expression Signature of Myotubes with Dystrophin knocked Down: Attempts at Unravelling the Mystery [PDF]

Iranian Journal of Public Health, 2005
Duchenne Muscular Dystrophy (DMD) is one of a group of genetically heterogeneous muscular dystrophies that are characterized by progressive weakness and wasting of skeletal muscle.
MM Ghahramani Seno, IR Graham, K Laing, M Pohlschmidt, T Athanasopoulos, MR Crompton, G Dickson   +6 more
doaj   +1 more source

Low human dystrophin levels prevent cardiac electrophysiological and structural remodelling in a Duchenne mouse model

Scientific Reports, 2021
Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder caused by loss of dystrophin. This lack also affects cardiac structure and function, and cardiovascular complications are a major cause of death in DMD.
Gerard A. Marchal, Maaike van Putten, Arie O. Verkerk, Simona Casini, Kayleigh Putker, Shirley C. M. van Amersfoorth, Annemieke Aartsma-Rus, Elisabeth M. Lodder, Carol Ann Remme   +8 more
doaj   +1 more source

A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. [PDF]

Journal of Clinical Investigation, 1995
We have previously shown in a large X-linked pedigree that a deletion removing the dystrophin muscle promoter, the first muscle exon and part of intron 1 caused a severe dilated cardiomyopathy with no associated muscle weakness. Dystrophin expression was present in the muscle of affected males and transcription studies indicated that this dystrophin ...
MUNTONI F, WILSON L, MARROSU G, MARROSU MG, CIANCHETTI C, MESTRONI L, GANAU, Antonello, DUBOWITZ V, SEWRY C.   +8 more
openaire   +3 more sources

Optimized lentiviral vector to restore full-length dystrophin via a cell-mediated approach in a mouse model of Duchenne muscular dystrophy

Molecular Therapy: Methods & Clinical Development, 2022
Duchenne muscular dystrophy (DMD) is a muscle wasting disorder caused by mutations in the DMD gene. Restoration of full-length dystrophin protein in skeletal muscle would have therapeutic benefit, but lentivirally mediated delivery of such a large gene ...
Jinhong Meng, Marc Moore, John Counsell, Francesco Muntoni, Linda Popplewell, Jennifer Morgan   +5 more
doaj  

CRISPR-mediated Genome Editing Restores Dystrophin Expression and Function in mdx Mice.

Molecular Therapy, 2016
Duchenne muscular dystrophy (DMD) is a degenerative muscle disease caused by genetic mutations that lead to the disruption of dystrophin in muscle fibers. There is no curative treatment for this devastating disease.
Li Xu, K. Park, Lixia Zhao, Jing Xu, Mona El Refaey, Yandi Gao, Hua Zhu, Jianjie Ma, Renzhi Han   +8 more
semanticscholar   +1 more source