BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes

Three missense mutations targeting the same proline 209 (Pro209) codon in the co-chaperone Bcl2-associated athanogene 3 (BAG3) have been reported to cause distal myopathy, dilated cardiomyopathy or Charcot-Marie-Tooth type 2 neuropathy. Yet, it is unclear whether distinct molecular mechanisms underl...

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Vydáno v:Sci Rep
Hlavní autoři: Adriaenssens, Elias, Tedesco, Barbara, Mediani, Laura, Asselbergh, Bob, Crippa, Valeria, Antoniani, Francesco, Carra, Serena, Poletti, Angelo, Timmerman, Vincent
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2020
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7260189/
https://ncbi.nlm.nih.gov/pubmed/32472079
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-65664-z
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