Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta

Heat shock protein 47 (HSP47), encoded by the SERPINH1 gene, is a molecular chaperone essential for correct folding of collagens. We report a homozygous p.(R222S) substitution in HSP47 in a child with severe osteogenesis imperfecta leading to early demise. p.R222 is a highly conserved residue locate...

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Bibliografske podrobnosti
izdano v:PLoS Genet
Main Authors: Syx, Delfien, Ishikawa, Yoshihiro, Gebauer, Jan, Boudko, Sergei P., Guillemyn, Brecht, Van Damme, Tim, D’hondt, Sanne, Symoens, Sofie, Nampoothiri, Sheela, Gould, Douglas B., Baumann, Ulrich, Bächinger, Hans Peter, Malfait, Fransiska
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2021
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7877763/
https://ncbi.nlm.nih.gov/pubmed/33524049
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1009339
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