COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing

Mutations in the type I procollagen C-propeptide occur in ~6.5% of Osteogenesis Imperfecta (OI) patients. They are of special interest because this region of procollagen is involved in α chain selection and folding, but is processed prior to fibril assembly and is absent in mature collagen fibrils i...

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Bibliografiske detaljer
Udgivet i:Biochim Biophys Acta Mol Basis Dis
Main Authors: Barnes, Aileen M., Ashok, Aarthi, Makareeva, Elena N., Brusel, Marina, Cabral, Wayne A., Weis, MaryAnn, Moali, Catherine, Bettler, Emmanuel, Eyre, David R., Cassella, John P., Leikin, Sergey, Hulmes, David J.S., Kessler, Efrat, Marini, Joan C.
Format: Artigo
Sprog:Inglês
Udgivet: 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7521940/
https://ncbi.nlm.nih.gov/pubmed/31055083
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2019.04.018
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