Publications by authors named "Alix Simon"
Article Synopsis
- X-Linked myotubular myopathy (XLMTM) leads to significant muscle weakness and shorter life expectancy, with unclear impacts from non-muscular issues like liver problems.
- Research using an Mtm1 mouse model involved RNA-sequencing to understand the disease's effects on skeletal muscles and to check heart and liver functions.
- Findings showed skeletal muscle issues related to muscle development and inflammation, while the heart maintained function through compensatory mechanisms, suggesting potential areas for treatment focused on muscle defects in XLMTM.
Article Synopsis
- * Experimental mouse models showed that pairing a TAM mutation (Stim1R304W) with a partial ORAI1 mutation (Orai1R93W) led to positive health outcomes, including improved bone structure, spleen health, muscle function, and increased platelet counts.
- * The study suggests that targeting ORAI1 could offer a potential treatment strategy for TAM/STRMK, and identified myostatin as a potential biom
Despite efforts in biomedical research, pathophysiological mechanisms and therapeutic targets of diseases remain difficult to identify. The development of high-throughput techniques led to the advent of innovatve technologies called omics. They aim at characterizing as exhaustively as possible a set of molecules: genes, RNAs, proteins, metabolites, etc.
View Article and Find Full Text PDFCongenital myopathies define a genetically heterogeneous group of disorders associated with severe muscle weakness, for which no therapies are currently available. Here we investigated the repurposing of tamoxifen in mouse models of mild or severe forms of centronuclear myopathies due to mutations in BIN1 (encoding amphiphysin 2) or DNM2 (encoding dynamin 2), respectively. Exposure to a tamoxifen-enriched diet from 3 weeks of age resulted in significant improvement in muscle contractility without increase in fibre size in both models, underlying an increase in the capacity of the muscle fibres to produce more force.
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