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Brain and behavioural anomalies caused by Tbx1 haploinsufficiency are corrected by vitamin B12.

Life science alliance - 1 Feb 2025

Caterino Marianna, Paris Debora, Torromino Giulia, Costanzo Michele, Flore Gemma, Tramice Annabella, Golini Elisabetta, Mandillo Silvia, Cavezza Diletta, Angelini Claudia, Ruoppolo Margherita, Motta Andrea, De Leonibus Elvira, Baldini Antonio, Illingworth Elizabeth, Lania Gabriella

Abstract excerpt

The brain-related phenotypes observed in 22q11.2 deletion syndrome (DS) patients are highly variable, and their origin is poorly understood. Changes in brain metabolism might contribute to these phenotypes, as many of the deleted genes are involved in metabolic processes, but this is unknown. This study shows for the first time that Tbx1 haploinsufficiency causes brain metabolic imbalance. We studied two mouse...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39567195
DOI: 10.26508/lsa.202403075
PMCID: PMC11579592

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