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Title
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Mutations in **FAM134B**, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
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Author
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Abstract
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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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Language
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English
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Source (journal)
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Nature genetics. - New York, N.Y.
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Publication
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New York, N.Y.
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2009
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ISSN
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1061-4036
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Volume/pages
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41
:11
(2009)
, p. 1179-1181
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ISI
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000271247600009
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Full text (Publisher's DOI)
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