2012
DOI: 10.1016/j.ajpath.2011.12.040
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In Vivo Characterization of Mutant Myotilins

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Cited by 12 publications
(9 citation statements)
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“…The idea of creating a disease model by directly expressing a mutant in a given organ has already been performed in rodents for several proteins [34-37]. Thus, by using electroporation, a similar strategy was recently employed by Keduka et al ., to compare in vivo the effects of two mutations of myotilin, a protein involved in MFM [38]. They conclude that this approach recapitulates the pathological changes and the biochemical characteristics observed in patients with myotilin-related MFM.…”
Section: Discussionmentioning
confidence: 98%
“…The idea of creating a disease model by directly expressing a mutant in a given organ has already been performed in rodents for several proteins [34-37]. Thus, by using electroporation, a similar strategy was recently employed by Keduka et al ., to compare in vivo the effects of two mutations of myotilin, a protein involved in MFM [38]. They conclude that this approach recapitulates the pathological changes and the biochemical characteristics observed in patients with myotilin-related MFM.…”
Section: Discussionmentioning
confidence: 98%
“…For characterization of full-length myotilin, we fused thioredoxin (Trx) to its N-terminus (Trx-MYOT) to prevent progressive N-terminal degradation. A globular protein at the N-terminus of myotilin was shown not disturb its function in vivo, where GST, Myc and GFP fusions have been extensively used in cell biophysics experiments (13,24,25). To investigate the hydrodynamic and structural properties of Trx-MYOT, we first performed size exclusion chromatography coupled to SAXS (SEC-SAXS) ( Figure S1A).…”
Section: Myotilin Is a Conformational Ensemble In Solutionmentioning
confidence: 99%
“…The pathogenic effects of MYOT mutations in vivo were also studied by using electroporation to express mutant myotilin in mouse skeletal muscles; abnormal insoluble protein aggregates were similar to those observed in patients with myotilinopathy [62■]. …”
Section: Progress In Studies Of the Previously Identified Myofibrillamentioning
confidence: 99%