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Article

Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation.

Biochimica et biophysica acta - 1 Jan 2011

Leandro João, Simonsen Nina, Saraste Jaakko, Leandro Paula, Flatmark Torgeir

Abstract excerpt

The missense mutation pG46S in the regulatory (R) domain of human phenylalanine hydroxylase (hPAH), associated with a severe form of phenylketonuria, generates a misfolded protein which is rapidly degraded on expression in HEK293 cells. When overexpressed as a MBP-G46S fusion protein, soluble and...

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Source

Identifiers

PMID: 20937381
DOI: 10.1016/j.bbadis.2010.09.015

Genes

MBP
PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20937381-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation.PMID 20937381Read ↗

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