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Article

Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarism.

PLoS genetics - 1 Jan 2013

Hughes James, Piltz Sandra, Rogers Nicholas, McAninch Dale, Rowley Lynn, Thomas Paul

Abstract excerpt

Polyalanine expansions in transcription factors have been associated with eight distinct congenital human diseases. It is thought that in each case the polyalanine expansion causes misfolding of the protein that abrogates protein function. Misfolded proteins form aggregates when expressed in vitro; however, it is less clear whether aggregation is of relevance to these diseases in vivo. To investigate this issue,...

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Source

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Identifiers

PMID: 23505376
DOI: 10.1371/journal.pgen.1003290
PMCID: PMC3591313

Genes

SOX3

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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