Article
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
Nature genetics - 1 Nov 2009
Kurth Ingo, Pamminger Torsten, Hennings J Christopher, Soehendra Désirée, Huebner Antje K, Rotthier Annelies, Baets Jonathan, Senderek Jan, Topaloglu Haluk, Farrell Sandra A, Nürnberg Gudrun, Nürnberg Peter, De Jonghe Peter, Gal Andreas, Kaether Christoph, Timmerman Vincent, Hübner Christian A
Abstract excerpt
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....
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