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UnknownTranscription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.
Not available
S-EPMC2592511 | biostudies-literature
UnknownThe titin-telethonin complex is a directed, superstable molecular bond in the muscle Z-disk.
Not available
S-EPMC2726412 | biostudies-literature
UnknownKnockdown of Telethonin Reduces Contractions and Provokes Aberrant Ca<sup>2+</sup>-waves in Human iPS Cell-induced Cardiomyocytes.
Not available
S-EPMC12441175 | biostudies-literature
ProteomicsFunctional analysis of a gene-edited mouse to gain insights into the disease mechanisms of a TITIN missense variant
Aims: Pathogenic truncating variants in the largest human protein TITIN are a leading cause of dilated cardiomyopathy. Because of the size of the gene encoding TITIN, many missense variations are identified. These are difficult to evaluate in genetic testing, as even individually rare variants are c...
ORGANISM(S): Mus musculus (Mouse) 
2021-03-01 | PXD020390 | Pride
Proteomics Proteo-toxic response Telethonin Mouse model Proteasome Titin missense variant Cardiomyopathy 
UnknownA critical role for Telethonin in regulating t-tubule structure and function in the mammalian heart.
Not available
S-EPMC3526164 | biostudies-literature
UnknownCircadian regulation of myocardial sarcomeric Titin-cap (Tcap, telethonin): identification of cardiac clock-controlled genes using open access bioinformatics data.
Not available
S-EPMC4133362 | biostudies-literature
UnknownMolecular investigations into the mechanics of a muscle anchoring complex.
Not available
S-EPMC4423073 | biostudies-literature
UnknownFunctional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.
Not available
S-EPMC7910237 | biostudies-literature
UnknownNovel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.
Not available
S-EPMC4108395 | biostudies-literature
TranscriptomicsGene expression profiling in dysferlinopathies using a dedicated muscle microarray
We have performed expression profiling to define the molecular changes in dysferlinopathy using a novel dedicated microarray platform made with 3’-end skeletal muscle cDNAs. Eight dysferlinopathy patients, defined by western blot, immunohistochemistry and mutation analysis, were investigated with th...
ORGANISM(S): Homo sapiens 
2005-07-28 | GSE3022 | GEO
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