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Article

Behavioral and molecular effects of Ubtf knockout and knockdown in mice.

Brain research - 15 Oct 2022

Hori Roderick T, Moshahid Khan Mohammad, Xiao Jianfeng, Hargrove Phillip W, Moss Tom, LeDoux Mark S

Abstract excerpt

The UBTF E210K neuroregression syndrome is caused by de novo dominant mutations in UBTF (NM_014233.3:c.628G > A, p.Glu210Lys). In humans, onset is typically at 2.5 to 3 years and characterized by slow progression of global motor, cognitive and behavioral dysfunction. Other potentially pathogenic UBTF variants have been reported in humans with severe neurological disease and it remains undetermined if the UBTF...

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Identifiers

PMID: 35973608
DOI: 10.1016/j.brainres.2022.148053
PMCID: PMC10908547

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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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