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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
ProteomicsMitochondrial dysfunction in Nemaline myopathy type 6
Nemaline Myopathy type 6 (NEM6) is a congenital myopathy caused by variants in KBTBD13...
ORGANISM(S): Mus musculus (Mouse) 
2026-06-29 | PXD071917 | Pride
Skeletal muscle soleus mice 
ProteomicsSEPN1-related myopathy depends on the oxidoreductase ERO1 alpha and is druggable with the chemical chaperone TUDCA
SEPN1-related myopathy depends on the oxidoreductase ERO1 alpha and is druggable with the chemical chaperone TUDCA
ORGANISM(S): Homo sapiens (Human) 
2024-05-24 | PXD047157 | Pride
Tudca Multi mini-core disease Er stress Ero1 Sepn1 Core myopathy 
ProteomicsMolecular Insights into Central Core Disease: Proteomic Signatures and Potential Therapeutic Biomarkers in RYR1 I4895T Mice
Central Core Disease (CCD) is a congenital myopathy, predominantly caused by mutations in the gene encoding for ryanodine receptor type-1(RYR1), the intracellular Ca2+ release channel embedded in skeletal muscle sarcoplasmic reticulum membrane. One of the most common RYR1 mutations associated to CCD...
ORGANISM(S): Mus musculus (Mouse) 
2025-12-22 | PXD069980 | Pride
Oxidative phosphorylation Myosin fragments Central core disease Glycolysis Pgc1α 
TranscriptomicsMisregulation of alternative splicing of BIN1 leads to T-tubule alterations and muscle weakness in myotonic dystrophy
Myotonic dystrophes (DM), the most common adult muscular dystrophy, are the first recognized examples of RNA-mediated diseases in which expression of mutant RNAs containing expanded CUG or CCUG repeats interfere with the splicing of other mRNAs. Using whole-genome microarrays, we found that alternat...
ORGANISM(S): Homo sapiens 
2011-05-26 | E-GEOD-21795 | biostudies-arrayexpress
UnknownNovel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.
Not available
S-EPMC7078025 | biostudies-literature
TranscriptomicsGene Expression Changes in Nemaline Myopathy
This SuperSeries is composed of the SubSeries listed below. Refer to individual Series
ORGANISM(S): Mus musculus 
2015-09-01 | E-GEOD-61451 | biostudies-arrayexpress
GenomicsInositol Trisphosphate Receptor Mediated Ca2+ Signalling Stimulates Mitochondrial Function and Gene Expression in Core Myopathy Patients
Inositol Trisphosphate Receptor Mediated Ca2+ Signalling Stimulates Mitochondrial Function and Gene Expression in Core Myopathy Patients
PRJNA407299 | ENA
TranscriptomicsGenome-scale analysis of Staphylococcus aureus reveals host-specific diversification of the core genome.
Staphylococcus aureus causes disease in humans and a wide array of animals. Of note, S. aureus mastitis of ruminants, including cows, sheep and goats, results in major economic losses worldwide. Extensive variation in genome content exists among S. aureus pathogenic clones. However, the genomic vari...
ORGANISM(S): Staphylococcus aureus 
2008-11-18 | E-GEOD-10187 | biostudies-arrayexpress
GenomicsesBAF is an essential component of the core pluripotency transcriptional network
Distinctive SWI/SNF-like ATP-dependent chromatin remodeling esBAF complexes are indispensable for the maintenance and pluripotency of mouse embryonic stem (ES) cells. To understand the mechanism underlying the roles of these complexes in ES cells, we performed high-resolution genome-wide mapping of ...
ORGANISM(S): Mus musculus 
2009-01-20 | E-GEOD-14344 | biostudies-arrayexpress
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