Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency

Mutations in the solute carrier family 6-member 8 (Slc6a8) gene, encoding the protein responsible for cellular creatine (Cr) uptake, cause Creatine Transporter Deficiency (CTD), an X-linked neurometabolic disorder presenting with intellectual disability, autistic-like features, and epilepsy. The pat...

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Detalles Bibliográficos
Autores principales: Ghirardini, Elsa, Sagona, Giulia, Marquez-Galera, Angel, Calugi, Francesco, Navarron, Carmen M., Cacciante, Francesco, Chen, Siwei, Di Vetta, Federica, Dadà, Lorenzo, Mazziotti, Raffaele, Lupori, Leonardo, Putignano, Elena, Baldi, Pierre, Lopez-Atalaya, Jose P., Pizzorusso, Tommaso, Baroncelli, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990224/
https://www.ncbi.nlm.nih.gov/pubmed/36882863
http://dx.doi.org/10.1186/s40478-023-01533-w

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