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


Kurth I., Pamminger T., Hennings J. C., Soehendra D., Huebner A. K., Rotthier A., ...Daha Fazla

NATURE GENETICS, cilt.41, sa.11, ss.1179-1181, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 41 Sayı: 11
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1038/ng.464
  • Dergi Adı: NATURE GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1179-1181
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.