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Myofibrillar myopathy-6 (MFM6) is rare, autosomal dominant neuromuscular disease that is characterised by devastating childhood muscular dystrophy, restrictive cardiomyopathy, and respiratory insufficiency. MFM-6 is caused by single base mutation in the gene encoding the co-chaperone BAG3 (Bcl-2 ass...
ORGANISM(S): Mus musculus (Mouse) 
2025-12-11 | PXD047942 | Pride
Equine myofibrillar myopathy (MFM) causes exertional muscle pain and is characterized by myofibrillar disarray and ectopic protein aggregates of unknown origin. To investigate the pathophysiology of MFM, we compared the skeletal muscle proteome and 3 h post-exercise transcriptome of gluteal muscle i...
ORGANISM(S): Equus caballus (Horse) 
2019-11-12 | PXD009362 | Pride
Transcriptome analysis by RNA-seq of tibialis anterior muscle from control and Smyd1 myocyte-specific conditional knockout mice at 6 weeks of age. Smyd1 is a methyltransferase specifically expressed in striated muscle and CD8+ T cells. Smyd1 deficiency resulted in centronuclear myopathy primarily ...
ORGANISM(S): Mus musculus 
A forward genetics screen led to the identification of the putative chromatin regulator EDM2 as a cellular anti-silencing factor and regulator of genome DNA methylation patterns. EDM2 contains a composite PHD finger domain that recognizes both active H3K4 and repressive H3K9 methylation marks at the...
ORGANISM(S): Arabidopsis thaliana 
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