An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions

Hereditary sensory neuropathy type 1 (HSN1) is caused by mutations in the SPTLC1 or SPTLC2 sub-units of the enzyme serine palmitoyltransferase, resulting in the production of toxic 1-deoxysphingolipid bases (DSBs). We used induced pluripotent stem cells (iPSCs) from patients with HSN1 to determine w...

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Detalles Bibliográficos
Autores principales: Clark, Alex J., Kugathasan, Umaiyal, Baskozos, Georgios, Priestman, David A., Fugger, Nadine, Lone, Museer A., Othman, Alaa, Chu, Ka Hing, Blesneac, Iulia, Wilson, Emma R., Laurà, Matilde, Kalmar, Bernadett, Greensmith, Linda, Hornemann, Thorsten, Platt, Frances M., Reilly, Mary M., Bennett, David L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8324498/
https://www.ncbi.nlm.nih.gov/pubmed/34337561
http://dx.doi.org/10.1016/j.xcrm.2021.100345

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8324498/
https://www.ncbi.nlm.nih.gov/pubmed/34337561
http://dx.doi.org/10.1016/j.xcrm.2021.100345

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