Results 101 to 110 of about 7,866 (244)
Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism. [PDF]
, 2019 Biological roles of obscurin and its close homolog Obsl1 (obscurin-like 1) have been enigmatic. While obscurin is highly expressed in striated muscles, Obsl1 is found ubiquitously.
Blondelle, Jordan +13 more
core +1 more source
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
Noncoding RNAs and Duchenne muscular dystrophy [PDF]
, 2016 Noncoding RNAs (ncRNAs) such as miRNAs and long noncoding RNAs modulate gene transcription in response to environmental stressors and other stimuli. A role for ncRNAs in muscle pathologies has been demonstrated and further evidence suggests that ncRNAs ...
Austin PJ +5 more
core +1 more source
Dystrophin and utrophin: the missing links!
FEBS Letters, 1995 There is considerable sequence homology between dystrophin and utrophin, both at the protein and DNA level, and consequently it was assumed that their domain structures and functions would be similar. As more of the detailed biochemical and cell biological properties of these two proteins become known, so it becomes clear that there are subtle if not ...
Winder, S.J. +2 more
openaire +2 more sources
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
High Throughput Screening in Duchenne Muscular Dystrophy: From Drug Discovery to Functional Genomics
Biology, 2014 Centers for the screening of biologically active compounds and genomic libraries are becoming common in the academic setting and have enabled researchers devoted to developing strategies for the treatment of diseases or interested in studying a ...
Thomas J.J. Gintjee +2 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
core
Metabogenic and Nutriceutical Approaches to Address Energy Dysregulation and Skeletal Muscle Wasting in Duchenne Muscular Dystrophy [PDF]
, 2015 Duchenne Muscular Dystrophy (DMD) is a fatal genetic muscle wasting disease with no current cure. A prominent, yet poorly treated feature of dystrophic muscle is the dysregulation of energy homeostasis which may be associated with intrinsic defects in ...
Cooke, Matthew +4 more
core +2 more sources
Tadalafil Treatment Delays the Onset of Cardiomyopathy in Dystrophin‐Deficient Hearts
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2016 BackgroundCardiomyopathy is a leading cause of mortality among Duchenne muscular dystrophy patients and lacks effective therapies. Phosphodiesterase type 5 is implicated in dystrophic pathology, and the phosphodiesterase type 5 inhibitor tadalafil has ...
David W. Hammers +5 more
doaj +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 +10 more
core +2 more sources