Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress

Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress

Abstract 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...

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Main Authors: Ahmed El‐Gazzar, Barbara Voraberger, Frank Rauch, Mario Mairhofer, Katy Schmidt, Brecht Guillemyn, Goran Mitulović, Veronika Reiterer, Margot Haun, Michaela M Mayr, Johannes A Mayr, Susanne Kimeswenger, Oliver Drews, Vrinda Saraff, Nick Shaw, Nadja Fratzl‐Zelman, Sofie Symoens, Hesso Farhan, Wolfgang Högler
Format: Article
Language:English
Published: Springer Nature 2023-03-01
Series:EMBO Molecular Medicine
Subjects:
autophagy
endoplasmic reticulum
osteogenesis imperfecta
SEC16B
type I collagen
Online Access:https://doi.org/10.15252/emmm.202216834
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https://doi.org/10.15252/emmm.202216834

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