Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients

BACKGROUND: Biallelic mutations in CYP27A1 and CYP7B1, two critical genes regulating cholesterol and bile acid metabolism, cause cerebrotendinous xanthomatosis (CTX) and hereditary spastic paraplegia type 5 (SPG5), respectively. These rare diseases are characterized by progressive degeneration of co...

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Detalles Bibliográficos
Autores principales: Mou, Yongchao, Nandi, Ghata, Mukte, Sukhada, Chai, Eric, Chen, Zhenyu, Nielsen, Jorgen E., Nielsen, Troels T., Criscuolo, Chiara, Blackstone, Craig, Fraidakis, Matthew J., Li, Xue-Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10080795/
https://www.ncbi.nlm.nih.gov/pubmed/37024986
http://dx.doi.org/10.1186/s13023-023-02666-w

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