Results 91 to 100 of about 7,758 (250)
Utrophin up-regulation by an artificial transcription factor in transgenic mice.
PLoS ONE, 2007 Duchenne Muscular Dystrophy (DMD) is a severe muscle degenerative disease, due to absence of dystrophin. There is currently no effective treatment for DMD.
Elisabetta Mattei +13 more
doaj +1 more source
Utrophin up-regulation helps maintain normal cardiac geometry in a gene therapy model for Duhenne muscular dystrophy heart disease [abstract] [PDF]
, 2010 Duchenne muscular dystrophy (DMD) is the most common childhood muscle wasting disease. DMD sufferers rarely survive past their mid-twenties succumbing to respiratory or heart failure.
Bostick, Brian P., 1979-
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UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, Volume 12, Issue 6, Page 1302-1308, June 2025.Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs +8 more
wiley +1 more source
Functional characterisation of filamentous actin probe expression in neuronal cells. [PDF]
PLoS ONE, 2017 Genetically encoded filamentous actin probes, Lifeact, Utrophin and F-tractin, are used as tools to label the actin cytoskeleton. Recent evidence in several different cell types indicates that these probes can cause changes in filamentous actin dynamics,
Shrujna Patel +8 more
doaj +1 more source
Visualization of actin filaments and monomers in somatic cell nuclei [PDF]
, 2013 © The Author(s), 2013. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Molecular Biology of the Cell 24 (2013): 982-994, doi:10.1091/mbc.E12-09-0685.In addition to its long-
Belin, Brittany J. +3 more
core +1 more source
The Heterotaxy Gene CCDC11 Is Important for Cytokinesis via RhoA Regulation
Cytoskeleton, Volume 82, Issue 6, Page 360-371, June 2025.ABSTRACT Mutations in CCDC11 (cfap53) have been identified in multiple patients with heterotaxy (Htx), a disorder of left–right (LR) patterning of the internal organs. In Xenopus, depletion of Ccdc11 causes defects in LR patterning, recapitulating the patient phenotype. Upon Ccdc11 depletion, monociliated cells of the Left–Right Organizer (LRO) exhibit
Saurabh S. Kulkarni +9 more
wiley +1 more source
Clinical and Translational Medicine, Volume 15, Issue 5, May 2025.EVs were isolated from plasma of ME/CFS patients and healthy controls at baseline, and 15 min and 24 h postexercise. Untargeted proteomics revealed dysregulation in energy metabolism, the complement system, and the endoplasmic reticulum stress response. Changes in EV protein levels postexercise are associated with post‐exertional malaise.
Katherine A. Glass +3 more
wiley +1 more source
Expression of the utrophin gene during myogenic differentiation [PDF]
Nucleic Acids Research, 1999 The process of myogenic differentiation is known to be accompanied by large increases ( approximately 10-fold) in the expression of genes encoding cytoskeletal and membrane proteins including dystrophin and the acetylcholine receptor (AChR) subunits, via the effects of transcription factors belonging to the MyoD family.
Anthony O. Gramolini, Bernard J. Jasmin
openaire +2 more sources
Frontiers in Pharmacology, 2018 Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy characterized by progressive muscle degeneration. This disease is caused by the mutation or deletion of the dystrophin gene. Currently, there are no effective treatments
Tsubasa Kameyama +20 more
doaj +1 more source
Characterisation of alpha-dystrobrevin in muscle [PDF]
, 1998 Dystrophin-related and associated proteins are important for the formation and maintenance of the mammalian neuromuscular junction. Initial studies in the electric organ of Torpedo californica showed that the dystrophin-related protein dystrobrevin (87K)
Blake, D. J. +4 more
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