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Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A

Charcot–Marie–Tooth disease is the most common inherited disorder of the PNS. CMT1A accounts for 40–50% of all cases and is caused by a duplication of the PMP22 gene on chromosome 17, leading to dysmyelination in the PNS. Patient-derived models to study such myelination defects are lacking as the in...

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Detalles Bibliográficos
Autores principales: Van Lent, Jonas, Vendredy, Leen, Adriaenssens, Elias, Da Silva Authier, Tatiana, Asselbergh, Bob, Kaji, Marcus, Weckhuysen, Sarah, Van Den Bosch, Ludo, Baets, Jonathan, Timmerman, Vincent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10316758/
https://www.ncbi.nlm.nih.gov/pubmed/36511878
http://dx.doi.org/10.1093/brain/awac475