Ontology highlight
ABSTRACT:
SUBMITTER: Scheiber AL
PROVIDER: S-EPMC6370306 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
Scheiber Amanda L AL Guess Adam J AJ Kaito Takashi T Abzug Joshua M JM Enomoto-Iwamoto Motomi M Leikin Sergey S Iwamoto Masahiro M Otsuru Satoru S
Biochemical and biophysical research communications 20181220 1
Osteogenesis imperfecta (OI) is a hereditary bone disorder most commonly caused by autosomal dominant mutations in genes encoding type I collagen. In addition to bone fragility, patients suffer from impaired longitudinal bone growth. It has been demonstrated that in OI, an accumulation of mutated type I collagen in the endoplasmic reticulum (ER) induces ER stress in osteoblasts, causing osteoblast dysfunction leading to bone fragility. We hypothesize that ER stress is also induced in the growth ...[more]