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

Yongchao MouGhata A NandiSukhada MukteEric ChaiZhenyu ChenJorgen E NielsenTroels T NielsenChiara CriscuoloCraig BlackstoneMatthew J FraidakisXue-Jun Li
Published in: Orphanet journal of rare diseases (2023)
Our data demonstrate disease-specific lipid disturbances and axonopathy mechanisms in human pluripotent stem cell-based neuronal models of CTX and SPG5 and identify CDCA, an established treatment of CTX, as a potential pharmacotherapy for SPG5. We propose this novel treatment strategy to rescue axonal degeneration in SPG5, a currently incurable condition.
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