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  • 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.

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2021 Feb Others Fist_Author_Year_PM

Full Author : ['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', 'Bachinger, Hans Peter', 'Malfait, Fransiska']
Journal Title : PLoS genetics
Chapter : Section8
Journal Year : 2021

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.....

Keywords : ['mutant affect posttranslational modification', 'osteogenesis imperfecta', 'aberrant bind', 'type', 'lead', 'collagen']