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Article

Role of quality control pathways in human diseases involving protein misfolding.

Seminars in cell & developmental biology - 1 Feb 2004

Welch William J

Abstract excerpt

Advances in connecting phenotype to genotype have led to new insights regarding the basis of human disease. Many inherited diseases are now known to arise due to specific mutations within a gene that then lead to a protein product unable to assume a stable conformation within the cell. Cellular machineries serving as "quality control monitors" recognize and target such abnormally folded proteins for rapid...

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Identifiers

PMID: 15036204
DOI: 10.1016/j.semcdb.2003.12.011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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