Cargando…
Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency
Creatine Transporter Deficiency (CTD) is an inborn error of metabolism presenting with intellectual disability, behavioral disturbances and epilepsy. There is currently no cure for this disorder. Here, we employed novel biomarkers for monitoring brain function, together with well-established behavio...
Autores principales: | Cacciante, Francesco, Gennaro, Mariangela, Sagona, Giulia, Mazziotti, Raffaele, Lupori, Leonardo, Cerri, Elisa, Putignano, Elena, Butt, Mark, Do, Minh-Ha T., McKew, John C., Alessandrì, Maria Grazia, Battini, Roberta, Cioni, Giovanni, Pizzorusso, Tommaso, Baroncelli, Laura |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7591530/ https://www.ncbi.nlm.nih.gov/pubmed/33110151 http://dx.doi.org/10.1038/s41598-020-75436-4 |
Ejemplares similares
-
Novel translational phenotypes and biomarkers for creatine transporter deficiency
por: Mazziotti, Raffaele, et al.
Publicado: (2020) -
Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice
por: Mazziotti, Raffaele, et al.
Publicado: (2017) -
Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency
por: Ghirardini, Elsa, et al.
Publicado: (2023) -
A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study
por: Molinaro, Angelo, et al.
Publicado: (2019) -
The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development
por: Ghirardini, Elsa, et al.
Publicado: (2021)