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Abstract; Background: Gene transfer by electroporation (electro gene transfer) to muscle results in high level long term transgenic expression, showing great promise for treatment of e.g. protein deficiency syndromes. However little is known about the effects of electro gene transfer on muscle fibre...
ORGANISM(S): Mus musculus 
Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disorder characterized by ptosis, dysphagia and proximal limb weakness. Autosomal-dominant OPMD is caused by a short (GCG)8–13 expansions within the first exon of the poly(A)-binding protein nuclear 1 gene (PABPN1), leading to an expanded p...
ORGANISM(S): Mus musculus 
We simultaneously extracted DNA and protein from >200 single fibres per participant (7 males, 5 females) to directly compare methylome and proteome profiles of Type I and Type II human skeletal muscle fibres. Using the EPICv2 array and LC-MS/MS, we identified 5,689 robust DMRs (FDR <0.001) and 338 D...
ORGANISM(S): Homo sapiens (Human) 
2025-10-13 | PXD066393 | Pride
Muscle atrophy contributes to the poor prognosis of many physiopathological conditions, but pharmacological therapies are still limited. Muscle activity leads to major swings in mitochondrial [Ca2+] which control aerobic metabolism, cell death and survival pathways. We have investigated in vivo the ...
ORGANISM(S): Mus musculus 
C18ORF25 is a homolog of Arkadia (RNF111), an E3 ubiquitin ligase with SUMO-interaction motifs (SIMs) (PMID: 31417085). However, C18ORF25 lacks the entire C-terminal RING domain of RNF111 which is required for ubiquitin binding suggesting it lacks ubiquitination activity and may therefore act as an ...
ORGANISM(S): Mus musculus (Mouse) 
2024-01-03 | PXD045631 | Pride
 In fish, the slow-twitch skeletal muscle fibres have an oxidative metabolism, present peripherical location in the red muscle, and are used for sustained movements. They may respond to alterations in food availability differently than the fast-twitch muscle. The aim of this manuscript was to study ...
ORGANISM(S): Piaractus mesopotamicus 
2019-11-28 | PXD014320 | Pride
Background: skeletal muscle is a complex, versatile tissue composed of a variety of functionally diverse fiber types. Although the biochemical, structural and functional properties of myofibers have been the subject of intense investigation for the last decades, understanding molecular processes reg...
ORGANISM(S): Mus musculus 
The adult skeletal muscle is a plastic tissue with a remarkable ability to adapt to different levels of activity by altering its excitability, its contractile and metabolic phenotype and its mass. Knowledge on the mechanisms responsible for muscle mass comes primarily from models of muscle inactivit...
ORGANISM(S): Danio rerio 
Neurofibromatosis type 1 (NF1) is a multi-system disease caused by mutations in the NF1 gene encoding a Ras-GAP protein, neurofibromin, which negatively regulates Ras signalling. Besides neuroectodermal malformations and tumours, the skeletal system is often affected (e.g. scoliosis and long bone dy...
ORGANISM(S): Mus musculus 
In this experiment we have analyzed the effect of TGFbeta-1 incubation (3h of incubation time) on the gene expression profiles of human primary cultured skeletal muscle cells, both in growing myoblasts or in differentiated muscle fibres (after 10-days of differentiation), obtained from skeletal musc...
ORGANISM(S): Homo sapiens 
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