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...
Main Authors: | Léa Broca-Brisson, Rania Harati, Clémence Disdier, Orsolya Mozner, Romane Gaston-Breton, Auriane Maïza, Narciso Costa, Anne-Cécile Guyot, Balazs Sarkadi, Agota Apati, Matthew R Skelton, Lucie Madrange, Frank Yates, Jean Armengaud, Rifat Hamoudi, Aloïse Mabondzo |
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Format: | Article |
Language: | English |
Published: |
eLife Sciences Publications Ltd
2023-10-01
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Series: | eLife |
Subjects: | |
Online Access: | https://elifesciences.org/articles/88459 |
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