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

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 imp...

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Detalles Bibliográficos
Autores principales: Liepinsh, Edgars, Svalbe, Baiba, Stelfa, Gundega, Grinberga, Solveiga, Zvejniece, Liga, Schiöth, Helgi B., Dambrova, Maija
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10410785/
https://www.ncbi.nlm.nih.gov/pubmed/37553674
http://dx.doi.org/10.1186/s13229-023-00560-7

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