Results 81 to 90 of about 25,343 (235)
Journal of Translational Medicine, 2009 The dystrophin gene, located at Xp21, codifies dystrophin, which is part of a protein complex responsible for the membrane stability of muscle cells. Its absence on muscle causes Duchenne Muscular Dystrophy (DMD), a severe disorder, while a defect of ...
Gollop Thomaz R +6 more
doaj +1 more source
Contrasting Effects of Steroids and Angiotensin-Converting-Enzyme Inhibitors in a Mouse Model of Dystrophin-Deficient Cardiomyopathy [PDF]
, 2009 Ralf Bauer +4 more
openalex +1 more source
Altered Mechanical Properties of Astrocytes Lacking MLC1: Implications for the Leukodystrophy MLC
Glia, Volume 74, Issue 2, February 2026.Mechanical properties of Mlc1‐null astrocytes are altered. Cytoskeleton‐related pathways are dysregulated in Mlc1‐null astrocytes. Mlc1‐null astrocytes show alterations in focal adhesions, which link the cytoskeleton to the extracellular matrix. ABSTRACT Loss of function of the astrocyte protein MLC1 causes Megalencephalic Leukoencephalopathy with ...
Quinty Bisseling +10 more
wiley +1 more source
Molecular Therapy: Nucleic Acids, 2018 Duchenne muscular dystrophy is a fatal muscle disease, caused by mutations in DMD, leading to loss of dystrophin expression. Phosphorodiamidate morpholino splice-switching oligonucleotides (PMO-SSOs) have been used to elicit the restoration of a ...
Ugur Akpulat +6 more
doaj +1 more source
Dystrophin restoration therapy improves both the reduced excitability and the force drop induced by lengthening contractions in dystrophic mdx skeletal muscle [PDF]
, 2016 Pauline Roy +9 more
openalex +1 more source
Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.ABSTRACT Background Duchenne muscular dystrophy (DMD) is a severe, life‐limiting neuromuscular disorder (NMD) characterized by progressive muscle wasting and mitochondrial dysfunction. Although gene therapies offer promise, even those already approved by regulatory agencies, their use remains constrained by mutation specificity, delivery challenges and
Sean Y. Ng +12 more
wiley +1 more source
309. Implication of nNOSμ Delocalization on the Muscle Force in Dystrophin Deficient and δ-Sarcoglycan Knockout Mice [PDF]
, 2011 openalex +1 more source
Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.ABSTRACT Background Iterative decomposition of water and fat with echo asymmetry and least‐squares estimation quantitation (IDEAL‐IQ), a quantitative 6‐point Dixon magnetic resonance imaging (MRI) sequence, has been increasingly used for quantifying muscle fat fraction (FF) in neuromuscular disorders.
Yanyu Lu +14 more
wiley +1 more source
346. Heart Specific Min-Dystrophin Expression Rescues Systolic but Not Diastolic Function in Mdx Mice [PDF]
, 2008 openalex +1 more source
Dystrophin in the Neonatal and Adult Rat Intestine [PDF]
, 2021 Judith M. Lionarons +5 more
openalex +1 more source