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TranscriptomicsMicroarrays of mouse embryonic limb skeletal muscle at days E14.5 and E18.5 lacking the RYR1 or Cav1.1 Ca2+ channels
Our aim is to analyze how does the lack of each of the Ca2+ channels, involved in excitation-contraction coupling in skeletal muscle - RYR1 and Cav1.1, affect gene expression in embryonic mouse limb skeletal muscle during secondary myogenesis. We extracted total RNA from the limb skeletal muscle of ...
ORGANISM(S): Mus musculus 
2017-11-24 | E-MTAB-5755 | biostudies-arrayexpress
ProteomicsMolecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous RYR1 mutations
Mutations in the RYR1 gene are the most common cause of human congenital myopathies and patients with recessive mutations are severely affected and characteristically display ptosis and/or ophthalmoplegia. In order to gain insight into the mechanism leading to extraocular muscle involvement, we inve...
ORGANISM(S): Mus musculus (Mouse) 
2023-03-15 | PXD016879 | Pride
Proteomics Muscle Ryr1 Eom 
TranscriptomicsGenomic profiling of a RYR1-deficient skeletal muscle
In differentiated skeletal muscle, intracellular Ca2+ concentrations rise dramatically upon membrane depolarization, constituting the link between excitation and contraction (EC). Transient rises in [Ca2+]i mainly emerge from Ca2+ released by the type 1 ryanodine receptor (RYR1) and, in non-adult mu...
ORGANISM(S): Mus musculus 
2016-02-01 | E-MTAB-3608 | biostudies-arrayexpress
UnknownA novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.
Not available
S-EPMC10911087 | biostudies-literature
Genomics
G2435R-RYR1 Mouse baseline data
PRJNA594852 | ENA
UnknownTamoxifen treatment fails to improve muscle dysfunction in a model of recessive RYR1-linked centronuclear myopathy.
Not available
S-EPMC12805646 | biostudies-literature
ProteomicsProteomic analysis of skeletal muscles from wild type and transgenic mice carrying recessive Ryr1 mutations
Skeletal muscle is a highly structured and differentiated tissue responsible for voluntary movement and metabolic regulation. Muscles however, are heterogeneous and depending on their location, speed of contraction, fatiguability and function, can be broadly subdivided into fast and slow twitch as w...
ORGANISM(S): Mus musculus (Mouse) 
2022-09-27 | PXD036789 | Pride
Excitation contraction coupling Ryanodine receptor mutations Proteomic profiling Congenital myopathy 
Methylation profiling5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy
RYR1 congenital myopathies are rare disorders severely impacting muscle function and impairing the quality of life of patients and their families, yet to date, no pharmacological therapies are available to treat the severe muscle weakness of affected patients. The recessive forms of RYR1-related con...
ORGANISM(S): Mus musculus 
2025-04-07 | GSE277979 | GEO
Genomics5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy
5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy
PRJNA1165145 | ENA
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 
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