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. 2009 Nov;41(11):1179-81.
doi: 10.1038/ng.464. Epub 2009 Oct 18.

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Ingo Kurth  1 , Torsten Pamminger, J Christopher Hennings, Désirée Soehendra, Antje K Huebner, Annelies Rotthier, Jonathan Baets, Jan Senderek, Haluk Topaloglu, Sandra A Farrell, Gudrun Nürnberg, Peter Nürnberg, Peter De Jonghe, Andreas Gal, Christoph Kaether, Vincent Timmerman, Christian A Hübner
Affiliations

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Ingo Kurth et al. Nat Genet. 2009 Nov.

Abstract

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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References

    1. Int J Mol Med. 2007 Jun;19(6):915-23 - PubMed
    1. Nat Rev Neurosci. 2005 Aug;6(8):603-14 - PubMed
    1. Science. 1987 Sep 4;237(4819):1154-62 - PubMed
    1. Methods Mol Biol. 2007;390:309-28 - PubMed
    1. J Mol Med (Berl). 2005 Dec;83(12):935-43 - PubMed

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