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ProteomicsHomozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation
Filamin C is mainly expressed in striated muscle cells where it localizes to Z-discs, myotendinous junctions and intercalated discs. Recent studies have revealed numerous mutations in the FLNC gene causing familiar and sporadic myopathies and cardiomyopathies with marked clinical variability. The mo...
ORGANISM(S): Mus musculus (Mouse) 
2020-09-09 | PXD020097 | Pride
Lasermicrodissection Myofibrillar myopathies Filaminc Neuromuscular disorders Proteomics 
GenomicGenetic Susceptibility to Statin-Induced Myopathy

Severe myopathic events occur in 0.1-0.5% of patients taking statins. Although genetic association studies have identified some possibly associated gene loci, these have not been reproducible in additional studies with independent patient cohorts. A more reasonable explanation for susceptibility ...

phs001342 | dbGaP
TranscriptomicsInducible expression of PrPC in mouse skeletal muscles results in myopathy characterized by changes in gene expression
Over-expression of wild type PrP in skeletal muscles is sufficient to cause a primary myopathy with no signs of peripheral neuropathy, possibly due to accumulation of a cytotoxic truncated form of PrP and/or PrP aggregation. In this study we used DNA microarrays to identify 1499 transcripts that ar...
ORGANISM(S): Mus musculus 
2008-08-27 | E-GEOD-12576 | biostudies-arrayexpress
ProteomicsProteome and transcriptome profiling of equine myofibrillar myopathy identifies diminished peroxiredoxin 6 and enhanced cysteine metabolic pathways
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
Myopathy Horse Antioxidant Proteome 
ProteomicsFirst Clinical and Myopathological Description of a Myofibrillar Myopathy with Congenital Onset and Homozygous Mutation in FLNC
Filamin C (encoded by the FLNC gene) is a large actin-cross-linking protein involved in shaping the actin cytoskeleton in response to signaling events both at the sarcolemma and at myofibrillar Z-discs of cross-striated muscle cells. Multiple mutations in FLNC are associated with myofibrillar myopat...
ORGANISM(S): Homo sapiens (Human) 
2020-07-24 | PXD016657 | Pride
Filamin c  congenital myopathy  myofibrillar myopathy  flnc  proteomic signature  recessive inheritance 
ProteomicsComparison of the skeletal muscle proteomes in wt and hBAG3P209L overexpressing mice
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
Myofibrillar myopathy-6  mouse model  proteome  skeletal muscle Bag3p209l Bag3 
UnknownMitochondrial dysfunction in myofibrillar myopathy.
Not available
S-EPMC5066370 | biostudies-literature
UnknownA novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy.
Not available
S-EPMC7869515 | biostudies-literature
UnknownClinical and histopathological features of myofibrillar myopathy in Warmblood horses.
Not available
S-EPMC5640499 | biostudies-literature
ProteomicsEquine gluteal muscle LC-MSMS: Warmblood
Myofibrillar myopathy (MFM) in horses is a late onset disease that affects performance and athleticism. It is characterized by myofibrillar disarray and protein aggregation with no known cause. The objective of this study was to elucidate the molecular drivers of MFM in Warmblood (WB) horses by prot...
ORGANISM(S): Equus caballus (Horse) 
2021-09-09 | PXD019187 | Pride
Horse Lc-msms Gluteal muscle 
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