2019•Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseaseOpen access

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

Aileen M. Barnes, Aarthi Ashok, Elena Makareeva, Marina Brusel, Wayne A. Cabral, MaryAnn Weis, Catherine Moali, E. Bettler, David R. Eyre, John Cassella, Sergey Leikin, David Hulmes, Efrat Kessler, Joan C. Marini

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Key concepts: Procollagen peptidase, Protein precursor, Chemistry, Fibril, Osteogenesis imperfecta, Type I collagen, Extracellular matrix, Mutant