| First Author | Kurth I | Year | 2009 |
| Journal | Nat Genet | Volume | 41 |
| Issue | 11 | Pages | 1179-81 |
| PubMed ID | 19838196 | Mgi Jnum | J:154862 |
| Mgi Id | MGI:4410395 | Doi | 10.1038/ng.464 |
| Citation | Kurth I, et al. (2009) Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet 41(11):1179-81 |
| abstractText | 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. |
