Article
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
EMBO molecular medicine - 11 Apr 2023
El-Gazzar Ahmed, Voraberger Barbara, Rauch Frank, Mairhofer Mario, Schmidt Katy, Guillemyn Brecht, Mitulović Goran, Reiterer Veronika, Haun Margot, Mayr Michaela M, Mayr Johannes A, Kimeswenger Susanne, Drews Oliver, Saraff Vrinda, Shaw Nick, Fratzl-Zelman Nadja, Symoens Sofie, Farhan Hesso, Högler Wolfgang
Abstract excerpt
Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder characterized by bone fragility and reduced bone mass generally caused by defects in type I collagen structure or defects in proteins interacting with collagen processing. We identified a homozygous missense mutation in SEC16B in a child with vertebral fractures, leg bowing, short stature, muscular hypotonia, and bone...
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