Ontology highlight
ABSTRACT:
SUBMITTER: Lindert U
PROVIDER: S-EPMC4935805 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Lindert Uschi U Cabral Wayne A WA Ausavarat Surasawadee S Tongkobpetch Siraprapa S Ludin Katja K Barnes Aileen M AM Yeetong Patra P Weis Maryann M Krabichler Birgit B Srichomthong Chalurmpon C Makareeva Elena N EN Janecke Andreas R AR Leikin Sergey S Röthlisberger Benno B Rohrbach Marianne M Kennerknecht Ingo I Eyre David R DR Suphapeetiporn Kanya K Giunta Cecilia C Marini Joan C JC Shotelersuk Vorasuk V
Nature communications 20160706
Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked recessive form of OI caused by defects in MBTPS2, which encodes site-2 metalloprotease (S2P). MBTPS2 missense mutations in two independent kindreds with moderate/severe OI cause substitutions at highly conserved S2P residues. Mutant S2P has normal stability, but impaired functioning in regulated intramembrane proteolysis (RIP) of OASIS, ATF6 and SREBP transcription factors, consistent with decreased prob ...[more]