The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development

The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development

Creatine (Cr) Transporter Deficiency (CTD) is an X-linked metabolic disorder, mostly caused by missense mutations in the <i>SLC6A8</i> gene and presenting with intellectual disability, autistic behavior, and epilepsy. There is no effective treatment for CTD and patients need lifelong ass...

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Bibliographic Details
Main Authors: Elsa Ghirardini, Francesco Calugi, Giulia Sagona, Federica Di Vetta, Martina Palma, Roberta Battini, Giovanni Cioni, Tommaso Pizzorusso, Laura Baroncelli
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Genes
Subjects:
metabolism
metabolic disorders
intellectual disability
autism
epilepsy
creatine
Online Access:https://www.mdpi.com/2073-4425/12/8/1123

Internet

https://www.mdpi.com/2073-4425/12/8/1123

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