Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.

@article{Penno2010HereditarySN,
  title={Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.},
  author={Anke Penno and Mary M Reilly and Henry Houlden and M. Bellis Laura and Katharina Rentsch and Vera Niederkofler and Esther T Stoeckli and G. E. Nicholson and Florian Eichler and R. H. Brown and Arnold von Eckardstein and Thorsten Hornemann},
  journal={The Journal of biological chemistry},
  year={2010},
  volume={285 15},
  pages={11178-87}
}
HSAN1 is an inherited neuropathy found to be associated with several missense mutations in the SPTLC1 subunit of serine palmitoyltransferase (SPT). SPT catalyzes the condensation of serine and palmitoyl-CoA, the initial step in the de novo synthesis of sphingolipids. Here we show that the HSAN1 mutations induce a shift in the substrate specificity of SPT, which leads to the formation of the two atypical deoxy-sphingoid bases (DSBs) 1-deoxy-sphinganine and 1-deoxymethyl-sphinganine. Both… CONTINUE READING

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