Results 91 to 100 of about 56,717 (273)

Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy [PDF]

, 2015
Frameshift mutations in the TTN gene encoding titin are a major cause for inherited forms of dilated cardiomyopathy (DCM), a heart disease characterized by ventricular dilatation, systolic dysfunction, and progressive heart failure. To date, there are no
Alessandra, Moretti, Alexander, Goedel, Annemieke Aartsma, Rus, Brenda, Gerull, Daniel, Sinnecker, Elvira, Parrotta, John J., Atherton, Julie, Mcgaughran, Karl Ludwig, Laugwitz, Katja, Metzger, Ludwig, Thierfelder, Luna Simona, Pane, Martin, Schaller, Matthias, Mann, Meinrad Paul, Gawaz, Michael, Gramlich, Murgia, Marta, Qifeng, Zhou, Richard P., Harvey, Siegfried, Labeit, Sonja, Sch\uf6tterl, Thomas, Brade, Zhifen, Chen   +22 more
core   +1 more source

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

A Five-Repeat Micro-Dystrophin Gene Ameliorated Dystrophic Phenotype in the Severe DBA/2J-mdx Model of Duchenne Muscular Dystrophy

Molecular Therapy: Methods & Clinical Development, 2017
Micro-dystrophins are highly promising candidates for treating Duchenne muscular dystrophy, a lethal muscle disease caused by dystrophin deficiency.
Chady H. Hakim, N. B. Wasala, Xiufang Pan, Kasun Kodippili, Y. Yue, Keqing Zhang, G. Yao, Brittney Haffner, Sean X. Duan, Julian Ramos, Joel S. Schneider, N. N. Yang, J. Chamberlain, D. Duan   +13 more
semanticscholar   +1 more source

Asynchrony Related to Mechanical Ventilation Exacerbates Diaphragm Dysfunction in a Mouse Model of Duchenne Muscular Dystrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims In dystrophic mice (mdx, a genetic homolog of Duchenne muscular dystrophy: DMD), previous studies showed that mechanical ventilation (MV) induces ventilator‐induced diaphragmatic dysfunction (VIDD). However, susceptibility to mechanical stress caused by asynchrony remains unknown.
Mohamad Yehya, Haikel Dridi, Eric Estève, Johan Moreau, Steven Reiken, Andrew R. Marks, Alain Lacampagne, Stefan Matecki   +7 more
wiley   +1 more source

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

Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies

The Journal of Pathology, EarlyView.
Abstract Dystrophinopathies are caused by pathogenic variants in the DMD gene, resulting in partial (Becker) or complete loss (Duchenne) of dystrophin. Becker (BMD) and Duchenne muscular dystrophy (DMD) are characterized by progressive muscle wasting, fatty replacement, fibrosis, and loss of function.
Laura GM Heezen, Qirong Mao, Stefan Nicolau, Claudio Novella Rausell, Julia van der Weerd, Jan Kueckelhaus, Rasya Gokul Nath, Jordi Diaz‐ Manera, Hermien E Kan, Erik H Niks, Maaike van Putten, Annemieke Aartsma‐Rus, Kevin M Flanigan, Ahmed Mahfouz, Pietro Spitali   +14 more
wiley   +1 more source

Increased neointimal thickening in dystrophin-deficient mdx mice.

PLoS ONE, 2012
BackgroundThe dystrophin gene, which is mutated in Duchenne muscular dystrophy (DMD), encodes a large cytoskeletal protein present in muscle fibers. While dystrophin in skeletal muscle has been extensively studied, the function of dystrophin in vascular ...
Uwe Rauch, Annelie Shami, Feng Zhang, Virginie Carmignac, Madeleine Durbeej, Anna Hultgårdh-Nilsson   +5 more
doaj   +1 more source

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

Nature Medicine, 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

Second harmonic generating (SHG) nanoprobes for in vivo imaging [PDF]

, 2010
Fluorescence microscopy has profoundly changed cell and molecular biology studies by permitting tagged gene products to be followed as they function and interact.
Billinton, Bruchez Jr., Campagnola, Chan, D. Wu, Dahan, Datta, Denk, Dickson, Fitzpatrick, Hadjantonakis, Hsieh, Huang, J. Maloney, Larson, Lippincott-Schwartz, Madsen, Michler, P. Pantazis, Pantazis, S. E. Fraser, Shaner, Stollberg, Tromberg, Wang, Weissleder, Xing   +26 more
core   +4 more sources

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source