Deciphering neuronal deficit and protein profile changes in human brain organoids from patients with creatine transporter deficiency

Creatine transporter deficiency (CTD) is an X-linked disease caused by mutations in the SLC6A8 gene. The impaired creatine uptake in the brain results in intellectual disability, behavioral disorders, language delay, and seizures. In this work, we generated human brain organoids from induced pluripo...

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Detalles Bibliográficos
Autores principales: Broca-Brisson, Léa, Harati, Rania, Disdier, Clémence, Mozner, Orsolya, Gaston-Breton, Romane, Maïza, Auriane, Costa, Narciso, Guyot, Anne-Cécile, Sarkadi, Balazs, Apati, Agota, Skelton, Matthew R, Madrange, Lucie, Yates, Frank, Armengaud, Jean, Hamoudi, Rifat, Mabondzo, Aloïse
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2023
Materias:
Cell Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10575631/
https://www.ncbi.nlm.nih.gov/pubmed/37830910
http://dx.doi.org/10.7554/eLife.88459

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10575631/
https://www.ncbi.nlm.nih.gov/pubmed/37830910
http://dx.doi.org/10.7554/eLife.88459

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