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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Biochim Biophys Acta Mol Basis Dis
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2019
Pynciau:
Article
Mynediad Ar-lein: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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