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

Barnes, AM; Ashok, A; Makareeva, EN; Brusel, M; Cabral, WA; Weis, M; Moali, C; Bettler, E; Eyre, DR; Cassella, JP; Leikin, S; Hulmes, DJS; Kessler, E; Marini, JC

Marini, JC (reprint author), NICHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bldg 49,Rm 5A52,9000 Rockville Pike, Bethesda, MD 20892 USA.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2019; 1865 (9): 2210

Abstract

Mutations in the type I procollagen C-propeptide occur in similar to 6.5% of Osteogenesis Imperfecta (OD patients. They are of special interest becaus......

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