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Article

Elucidation of proteostasis defects caused by osteogenesis imperfecta mutations in the collagen-α2(I) C-propeptide domain.

The Journal of biological chemistry - 17 Jul 2020

Doan Ngoc-Duc, Hosseini Azade S, Bikovtseva Agata A, Huang Michelle S, DiChiara Andrew S, Papa Louis J, Koller Antonius, Shoulders Matthew D

Abstract excerpt

Intracellular collagen assembly begins with the oxidative folding of ∼30-kDa C-terminal propeptide (C-Pro) domains. Folded C-Pro domains then template the formation of triple helices between appropriate partner strands. Numerous C-Pro missense variants that disrupt or delay triple-helix formation are known to cause disease, but our understanding of the specific proteostasis defects introduced by these variants...

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Identifiers

PMID: 32482890
DOI: 10.1074/jbc.RA120.014071
PMCID: PMC7380194

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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