Results 71 to 80 of about 59,671 (341)

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells

FEBS Open Bio, EarlyView.
We performed nanopore whole‐transcriptome sequencing comparing RNA from Hnrnpl‐knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results indicate that Hnrnpl regulates the expression of genes involved with Notch signaling and skeletal muscle, particularly splicing patterns of specific muscle ...
Hannah R. Littel, Mekala Gunasekaran, Audrey L. Daugherty, Natalya M. Wells, Johnnie Turner, Christine C. Bruels, Christina A. Pacak, Isabelle Draper, Peter B. Kang   +8 more
wiley   +1 more source

Increased levels of interleukin-6 exacerbate the dystrophic phenotype in mdx mice [PDF]

, 2015
Duchenne muscular dystrophy (DMD) is characterized by progressive lethal muscle degeneration and chronic inflammatory response. The mdx mouse strain has served as the animal model for human DMD. However, while DMD patients undergo extensive necrosis, the
Berardinelli, Maria Grazia, Camilli, Carlotta, Catizone, Angela, De Benedetti, Fabrizio, Forcina, Laura, Musarò, Antonio, Nicoletti, Carmine, Pelosi, Laura, Rizzuto, Emanuele, Spelta, Elisa, Testa, Erika   +10 more
core   +2 more sources

Systemic delivery of full-length dystrophin in Duchenne muscular dystrophy mice

Nature Communications
Current gene therapy for Duchenne muscular dystrophy (DMD) utilizes adeno-associated virus (AAV) to deliver micro-dystrophin (µDys), which does not provide full protection for striated muscles as it lacks many important functional domains of full-length (
Yuan Zhou, Chen Zhang, Weidong Xiao, Roland W. Herzog, Renzhi Han   +4 more
doaj   +1 more source

Myelination is delayed during postnatal brain development in the mdx mouse model of Duchenne muscular dystrophy

BMC Neuroscience, 2017
Background In Duchenne muscular dystrophy (DMD), the loss of the dystrophin component of the dystrophin-glycoprotein complex (DGC) compromises plasma membrane integrity in skeletal muscle, resulting in extensive muscle degeneration. In addition, many DMD
Azeez Aranmolate, Nathaniel Tse, Holly Colognato   +2 more
doaj   +1 more source

Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells

Life, 2021
Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease caused by deficiency in dystrophin, a protein product encoded by the DMD gene. Mitochondrial dysfunction is now attracting much attention as a central player in DMD pathology.
Emma Tabe Eko Niba, Hiroyuki Awano, Tomoko Lee, Yasuhiro Takeshima, Masakazu Shinohara, Hisahide Nishio, Masafumi Matsuo   +6 more
doaj   +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

Long‐Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives This ongoing, open‐label extension study is evaluating the long‐term safety, tolerability, and efficacy of givinostat, a Class I and II histone deacetylase inhibitor, in patients with Duchenne muscular dystrophy (DMD). Methods The recruited patients completed one of two prior clinical studies (one Phase 2 and one Phase 3 [EPIDYS ...
Craig M. McDonald, Michela Guglieri, Dragana Vučinić, Gyula Acsadi, John F. Brandsema, Claudio Bruno, Erika L. Finanger, Amy Harper, Mercedes Lopez Lobato, Riccardo Masson, Nuria Muelas, Francina Munell, Yoram Nevo, Yann Péréon, Han Phan, Valeria A. Sansone, Mariacristina Scoto, Tracey Willis, Richard S. Finkel, Krista Vandenborne, Sara Cazzaniga, Silvia Montrasio, Federica Alessi, Paolo Bettica, Eugenio Mercuri, for the Givinostat Study 51 Investigators, the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS) Investigators, the ImagingDMD Investigators, Enrico Bertini, Giacomo Pietro Comi, Eugenio Maria Mercuri, Giuseppe Vita, Sonia Messina, Claudio Bruno, Riccardo Masson, Valeria Sansone, Nathalie Goemans, Liesbeth De Waele, Laurent Servais, Teresa Gidaro, Odile Boespflug‐Tanguy, Yann Péréon, Jessika Johannsen, Astrid Blaschek, Ulrike Schara‐Schmidt, Erik Niks, Imelda de Groot, Saskia Houwen‐van Opstal, Andres Nascimento, Juan Jesus Vilchez, Nuria Muelas, Francina Munell, Marcos Madruga Garrido, Mercedes Lopez Lobato, Michaela Guglieri, Tracey Willis, Stefan Spinty, Daniel Hawcutt, Mariacristina Scoto, Jean K. Mah, Laura McAdam, Kathryn Selby, Katherine Mathews, Craig McDonald, Craig Zaidman, Barry Byrne, John Brandsema, Gyula Acsadi, Chamindra Laverty, Amy Harper, Erika Finanger, Han Phan, Yoram Nevo, Vedrana Milic Rasic, Dragana Vucinic   +74 more
wiley   +1 more source

The Dystrophin Complex: Structure, Function, and Implications for Therapy.

Comprehensive Physiology, 2015
The dystrophin complex stabilizes the plasma membrane of striated muscle cells. Loss of function mutations in the genes encoding dystrophin, or the associated proteins, trigger instability of the plasma membrane, and myofiber loss.
Quan Q. Gao, E. McNally
semanticscholar   +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

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source