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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Vydáno v:Biochim Biophys Acta Mol Basis Dis
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
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Article
On-line přístup: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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