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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 
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 
UnknownMyofibrillar myopathies.
Not available
S-EPMC3052736 | biostudies-literature
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 
UnknownMitochondrial dysfunction in myofibrillar myopathy.
Not available
S-EPMC5066370 | biostudies-literature
UnknownEffect of postdevelopmental myostatin depletion on myofibrillar protein metabolism.
Not available
S-EPMC3118593 | biostudies-literature
UnknownThe unified myofibrillar matrix for force generation in muscle.
Not available
S-EPMC7381600 | biostudies-literature
UnknownMyofibrillar architecture in engineered cardiac myocytes.
Not available
S-EPMC3910252 | biostudies-literature
UnknownDetyrosinated microtubule arrays drive myofibrillar malformations in mdx muscle fibers.
Not available
S-EPMC10485621 | biostudies-literature
UnknownBlood Flow Restriction Only Increases Myofibrillar Protein Synthesis with Exercise.
Not available
S-EPMC6553970 | biostudies-literature
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