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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
eLife Sciences Publications, Ltd
2023
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Materias: | |
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 |
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