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ba0005lb9 | (1) | ECTS2016

First X-linked form of osteogenesis imperfecta, caused by mutations in MBTPS2, demonstrates a fundamental role for regulated intramembrane proteolysis in normal bone formation

Lindert Uschi , Cabral Wayne , Ausavarat Surasawadee , Tongkobpetch Siraprapa , Ludin Katja , Barnes Aileen , Yeetong Patra , Weis Maryann , Krabichler Birgit , Makareeva Elena , Janecke Andreas , Leikin Sergey , Rothlisberger Benno , Rohrback Marianne , Kennerknecht Ingo , Eyre David , Suphapeetiporn Kanya , Giunta Cecilia , Marini Joan , Shotelersuk Vorasuk

Osteogenesis imperfecta (OI) is a heritable bone dysplasia with collagen-related defects. Dominantly inherited OI is caused by structural defects in type I collagen or IFITM5, while recessive forms are caused by deficiency of proteins that interact with collagen for modification, folding or cross-linking. We have identified the first X-linked form of OI, caused by a defect in regulated intramembrane proteolysis (RIP). One type of RIP involves sequential cleavage of regulatory ...

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First X-linked form of osteogenesis imperfecta, caused by mutations in MBTPS2, demonstrates a fundamental role for regulated intramembrane proteolysis in normal bone formation

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