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

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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Bibliographic Details
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
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2023-10-01
Series:eLife
Subjects:
cortex
brain
neurogenesis
Online Access:https://elifesciences.org/articles/88459

Internet

https://elifesciences.org/articles/88459

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