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Article

Intragenic suppression of a constitutively active allele of Gsα associated with McCune-Albright syndrome.

Journal of molecular endocrinology - 1 Apr 2013

Tobar-Rubin Raquel, Sultan Dahlia, Janevska Daniela, Turcic Kyle, Carroll Julie, Ooms Laura, Pals-Rylaarsdam Robin

Abstract excerpt

McCune-Albright syndrome (MAS) is a human genetic disorder caused by a mutation that constitutively activates the G(s)α subunit by abolishing GTP hydrolysis. MAS patients suffer from a range of endocrinopathies as well as polyostotic fibrous dysplasia of bone. We previously identified an intragenic suppressor of the MAS mutation in a yeast system, which substituted two residues in the GTP-binding site of Gpa1:...

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Source

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Identifiers

PMID: 23288949
DOI: 10.1530/JME-12-0087
PMCID: PMC3836019

Genes

GNAS

Provenance

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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