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

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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Bibliographic Details
Main Authors: Delfien Syx, Yoshihiro Ishikawa, Jan Gebauer, Sergei P Boudko, Brecht Guillemyn, Tim Van Damme, Sanne D'hondt, Sofie Symoens, Sheela Nampoothiri, Douglas B Gould, Ulrich Baumann, Hans Peter Bächinger, Fransiska Malfait
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2021-02-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1009339

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https://doi.org/10.1371/journal.pgen.1009339

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