Article
Knockout of Tmlhe in mice is not associated with autism spectrum disorder phenotypes or motor dysfunction despite low carnitine levels.
Molecular autism - 8 Aug 2023
Liepinsh Edgars, Svalbe Baiba, Stelfa Gundega, Grinberga Solveiga, Zvejniece Liga, Schiöth Helgi B, Dambrova Maija
Abstract excerpt
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 could be important for the development of ASD and cognitive, locomotor and social dysfunctions, but previous findings have been...
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