Journal article
An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions
- Abstract:
-
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 whether endogenous DSBs are neurotoxic, patho-mechanisms of toxicity and response to therapy. HSN1 iPSC-derived sensory neurons (iPSCdSNs) endogenously produce neurotoxic DSBs. Complex gangliosides,...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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Authors
Funding
European Pain Federation EFIC
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Bibliographic Details
- Publisher:
- Cell Press Publisher's website
- Journal:
- Cell Reports Medicine Journal website
- Volume:
- 2
- Issue:
- 7
- Article number:
- 100345
- Publication date:
- 2021-07-20
- Acceptance date:
- 2021-06-16
- DOI:
- EISSN:
-
2666-3791
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
1182632
- Local pid:
- pubs:1182632
- Deposit date:
- 2021-06-18
Terms of use
- Copyright holder:
- Clark et al.
- Copyright date:
- 2021
- Rights statement:
- © 2021 The Author(s). This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
- Licence:
- CC Attribution (CC BY)
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