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Article

Rapid profiling of disease alleles using a tunable reporter of protein misfolding.

Genetics - 1 Nov 2012

Pittman Adrianne M C, Lage Melissa D, Poltoratsky Vladimir, Vrana Justin D, Paiardini Alessandro, Roncador Alessandro, Cellini Barbara, Hughes Robert M, Tucker Chandra L

Abstract excerpt

Many human diseases are caused by genetic mutations that decrease protein stability. Such mutations may not specifically affect an active site, but can alter protein folding, abundance, or localization. Here we describe a high-throughput cell-based stability assay, IDESA (intra-DHFR enzyme stability assay), where stability is coupled to cell proliferation in the model yeast, Saccharomyces cerevisiae. The assay...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22923379
DOI: 10.1534/genetics.112.143750
PMCID: PMC3522161

Genes

AGT
DHFR
SMN1

Provenance

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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