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

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Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. / 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; Peter, De Jonghe; Gal, Andreas; Kaether, Christoph; Timmerman, Vincent; Hübner, Christian A.

in: NAT GENET, Jahrgang 41, Nr. 11, 11, 2009, S. 1179-1181.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Kurth, I, Pamminger, T, Hennings, JC, Soehendra, D, Huebner, AK, Rotthier, A, Baets, J, Senderek, J, Topaloglu, H, Farrell, SA, Nürnberg, G, Nürnberg, P, Peter, DJ, Gal, A, Kaether, C, Timmerman, V & Hübner, CA 2009, 'Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.', NAT GENET, Jg. 41, Nr. 11, 11, S. 1179-1181. <http://www.ncbi.nlm.nih.gov/pubmed/19838196?dopt=Citation>

APA

Kurth, I., Pamminger, T., Hennings, J. C., Soehendra, D., Huebner, A. K., Rotthier, A., Baets, J., Senderek, J., Topaloglu, H., Farrell, S. A., Nürnberg, G., Nürnberg, P., Peter, D. J., Gal, A., Kaether, C., Timmerman, V., & Hübner, C. A. (2009). Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. NAT GENET, 41(11), 1179-1181. [11]. http://www.ncbi.nlm.nih.gov/pubmed/19838196?dopt=Citation

Vancouver

Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A et al. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. NAT GENET. 2009;41(11):1179-1181. 11.

Bibtex

@article{d1a1ce3340b94fad95d00da78cbfda93,
title = "Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.",
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.",
author = "Ingo Kurth and Torsten Pamminger and Hennings, {J Christopher} and D{\'e}sir{\'e}e Soehendra and Huebner, {Antje K} and Annelies Rotthier and Jonathan Baets and Jan Senderek and Haluk Topaloglu and Farrell, {Sandra A} and Gudrun N{\"u}rnberg and Peter N{\"u}rnberg and Peter, {De Jonghe} and Andreas Gal and Christoph Kaether and Vincent Timmerman and H{\"u}bner, {Christian A}",
year = "2009",
language = "Deutsch",
volume = "41",
pages = "1179--1181",
journal = "NAT GENET",
issn = "1061-4036",
publisher = "NATURE PUBLISHING GROUP",
number = "11",

}

RIS

TY - JOUR

T1 - Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

AU - Kurth, Ingo

AU - Pamminger, Torsten

AU - Hennings, J Christopher

AU - Soehendra, Désirée

AU - Huebner, Antje K

AU - Rotthier, Annelies

AU - Baets, Jonathan

AU - Senderek, Jan

AU - Topaloglu, Haluk

AU - Farrell, Sandra A

AU - Nürnberg, Gudrun

AU - Nürnberg, Peter

AU - Peter, De Jonghe

AU - Gal, Andreas

AU - Kaether, Christoph

AU - Timmerman, Vincent

AU - Hübner, Christian A

PY - 2009

Y1 - 2009

N2 - 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.

AB - 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.

M3 - SCORING: Zeitschriftenaufsatz

VL - 41

SP - 1179

EP - 1181

JO - NAT GENET

JF - NAT GENET

SN - 1061-4036

IS - 11

M1 - 11

ER -