Results 11 to 20 of about 48,181 (245)

Role of dystrophin in airway smooth muscle phenotype, contraction and lung function. [PDF]

PLoS ONE, 2014
Dystrophin links the transmembrane dystrophin-glycoprotein complex to the actin cytoskeleton. We have shown that dystrophin-glycoprotein complex subunits are markers for airway smooth muscle phenotype maturation and together with caveolin-1, play an ...
Pawan Sharma, Sujata Basu, Richard W Mitchell, Gerald L Stelmack, Judy E Anderson, Andrew J Halayko   +5 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

Uniform sarcolemmal dystrophin expression is required to prevent extracellular microRNA release and improve dystrophic pathology

Journal of Cachexia, Sarcopenia and Muscle, 2020
Background Duchenne muscular dystrophy (DMD) is a fatal muscle‐wasting disorder caused by genetic loss of dystrophin protein. Extracellular microRNAs (ex‐miRNAs) are putative, minimally invasive biomarkers of DMD. Specific ex‐miRNAs (e.g. miR‐1, miR‐133a,
Tirsa L.E. vanWestering, Yulia Lomonosova, Anna M.L. Coenen‐Stass, Corinne A. Betts, Amarjit Bhomra, Margriet Hulsker, Lucy E. Clark, Graham McClorey, Annemieke Aartsma‐Rus, Maaike vanPutten, Matthew J.A. Wood, Thomas C. Roberts   +11 more
doaj   +1 more source

Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy [PDF]

, 2018
Mutations in the gene encoding dystrophin, a protein that maintains muscle integrity and function, cause Duchenne muscular dystrophy (DMD). The deltaE50-MD dog model of DMD harbors a mutation corresponding to a mutational “hotspot” in the human DMD gene.
Amoasii, L, Bassel-Duby, R, Caballero, D, Harron, R, Hildyard, J C W, Li, H, Massey, C A, Mireault, A, Olson, E N, Piercy, R J, Sanchez-Ortiz, E, Shelton, J M, Stathopoulou, T-R   +12 more
core   +2 more sources

The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy

Acta Neuropathologica Communications, 2021
During the last decade, multiple clinical trials for Duchenne muscular dystrophy (DMD) have focused on the induction of dystrophin expression using different strategies.
Dominic Scaglioni, Francesco Catapano, Matthew Ellis, Silvia Torelli, Darren Chambers, Lucy Feng, Matthew Beck, Caroline Sewry, Mauro Monforte, Shawn Harriman, Erica Koenig, Jyoti Malhotra, Linda Popplewell, Michela Guglieri, Volker Straub, Eugenio Mercuri, Laurent Servais, Rahul Phadke, Jennifer Morgan, Francesco Muntoni   +19 more
doaj   +1 more source

Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models. [PDF]

, 2019
Systemic delivery of antisense oligonucleotides (AO) for DMD exon skipping has proven effective for reframing DMD mRNA, rescuing dystrophin expression, and slowing disease progression in animal models.
Barthélémy, Florian, Douine, Emilie D, Hsu, Christopher, Marcantonio, Eugene E, Miceli, M Carrie, Nelson, Stanley F, Wang, Richard T   +6 more
core   +1 more source

The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype [PDF]

, 2016
Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced.
BOZZONI, Irene, Briganti, F, LEGNINI, IVANO, MARTONE, Julie, MORLANDO, MARIANGELA, Picillo, E, Politano, L, STHANDIER, Olga Elena   +7 more
core   +5 more sources

Cmah-dystrophin deficient mdx mice display an accelerated cardiac phenotype that is improved following peptide-PMO exon skipping treatment [PDF]

, 2018
Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin protein, leading to progressive muscle weakness and premature death due to respiratory and/or cardiac complications.
Ball, V, Betts, C A, Gait, M J, Godfrey, C, Hammond, S M, Healicon, R, Manzano, R, McClorey, G, Merritt, T M, Muses, S, O'Donovan, L, Tyler, D, Wells, D J, Wells, K E, Westering, T, Wood, M J   +15 more
core   +2 more sources

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

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