Knockout of Tmlhe in mice is not associated with autism spectrum disorder phenotypes or motor dysfunction despite low carnitine levels

Abstract Deletion of exon 2 of the trimethyllysine hydroxylase epsilon (TMLHE) gene was identified in probands with autism spectrum disorder (ASD). TMLHE encodes the first enzyme in carnitine biosynthesis, N6-trimethyllysine dioxygenase (TMLD). Researchers have suggested that carnitine depletion cou...

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Bibliographic Details

Published in:	Molecular Autism
Main Authors:	Edgars Liepinsh, Baiba Svalbe, Gundega Stelfa, Solveiga Grinberga, Liga Zvejniece, Helgi B. Schiöth, Maija Dambrova
Format:	Article
Language:	English
Published:	BMC 2023-08-01
Subjects:	N6-trimethyllysine dioxygenase (TMLD) Autism spectrum disorder Mice Gamma-butyrobetaine Mitochondria
Online Access:	https://doi.org/10.1186/s13229-023-00560-7