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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10086588/
https://www.ncbi.nlm.nih.gov/pubmed/36916446
http://dx.doi.org/10.15252/emmm.202216834

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10086588/
https://www.ncbi.nlm.nih.gov/pubmed/36916446
http://dx.doi.org/10.15252/emmm.202216834

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