Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons...
Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency
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Author / Creator
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 and Baroncelli, Laura
Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
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 pathological determinants of CTD are still po...
Alternative Titles
Full title
Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency
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TN_cdi_doaj_primary_oai_doaj_org_article_3f49e5cb2fdd44aa8c6228ed37b9bcba
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3f49e5cb2fdd44aa8c6228ed37b9bcba
Other Identifiers
ISSN
2051-5960
E-ISSN
2051-5960
DOI
10.1186/s40478-023-01533-w
