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 SLC6A8 gene and presenting with intellectual disability, autistic behavior, and epilepsy. There is no effective treatment for CTD and patients need lifelong assistance. Thus, the...

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Detalles Bibliográficos
Autores principales: Ghirardini, Elsa, Calugi, Francesco, Sagona, Giulia, Di Vetta, Federica, Palma, Martina, Battini, Roberta, Cioni, Giovanni, Pizzorusso, Tommaso, Baroncelli, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8392480/
https://www.ncbi.nlm.nih.gov/pubmed/34440297
http://dx.doi.org/10.3390/genes12081123

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8392480/
https://www.ncbi.nlm.nih.gov/pubmed/34440297
http://dx.doi.org/10.3390/genes12081123

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