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

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

Abstract 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 degenerati...

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Bibliographic Details
Main Authors: Yongchao Mou, Ghata Nandi, Sukhada Mukte, Eric Chai, Zhenyu Chen, Jorgen E. Nielsen, Troels T. Nielsen, Chiara Criscuolo, Craig Blackstone, Matthew J. Fraidakis, Xue-Jun Li
Format: Article
Language:English
Published: BMC 2023-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Cerebrotendinous xanthomatosis
Spastic paraplegia type 5
Axonal degeneration
Chenodeoxycholic acid
Induced pluripotent stem cell
Online Access:https://doi.org/10.1186/s13023-023-02666-w

Internet

https://doi.org/10.1186/s13023-023-02666-w

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