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Article

Individuals with SATB2-associated syndrome have impaired vitamin and energy metabolism pathways.

Metabolic brain disease - 14 Nov 2024

Collu Roberto, Zarate Yuri A, Xia Weiming, Fish Jennifer L

Abstract excerpt

Special AT-rich sequence-binding protein 2 (SATB2) is a master regulator of gene expression. Mutations of the SATB2 gene results in the SATB2-associated syndrome (SAS), a genetic disorder characterized by neurodevelopmental disabilities and autism-related phenotype. The importance of plasma as an indicator of SAS phenotypes is unknown. We aim to investigate if pathogenic variants in SATB2 are associated with...

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Identifiers

PMID: 39541055
DOI: 10.1007/s11011-024-01465-x

Genes

SATB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Individuals with SATB2-associated syndrome have impaired vitamin and energy metabolism pathways.PMID 39541055Read ↗

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SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review.Semantic proximity Read ↗

Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations.Semantic proximity Read ↗

Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes.Semantic proximity Read ↗

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