Journal
NATURE GENETICS
Volume 41, Issue 11, Pages 1179-1181Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.464
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Funding
- Werner-Otto-Stiftung
- University of Antwerp
- DFG
- IZKF Jena
- Fund for Scientific Research (FWO-Flanders)
- Universitatsklinikum Hamburg Eppendorf
- Medical Foundation Queen Elisabeth (GSKE)
- Belgian Federal Science Policy Office (BELSPO) [P6/43]
- Institute for Science and Technology (IWT)
- FWO-Flanders
- Deutsche Forschungsgemeinschaft
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Hereditary sensory and autonomic neuropathy type II (HSAN II) leads to severe mutilations because of impaired nociception and autonomic dysfunction. Here we show that loss-of-function mutations in FAM134B, encoding a newly identified cis-Golgi protein, cause HSAN II. Fam134b knockdown results in structural alterations of the cis-Golgi compartment and induces apoptosis in some primary dorsal root ganglion neurons. This implicates FAM134B as critical in long-term survival of nociceptive and autonomic ganglion neurons.
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