Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
Standard
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, Vol. 41, No. 11, 11, 2009, p. 1179-1181.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Harvard
APA
Vancouver
Bibtex
}
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 -