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

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 str...

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Veröffentlicht in:	Nature genetics 2009-11, Vol.41 (11), p.1179-1181
Hauptverfasser:	Gal, Andreas, Huebner, Antje K, Baets, Jonathan, De Jonghe, Peter, Soehendra, Désirée, Nürnberg, Gudrun, Rotthier, Annelies, Senderek, Jan, Kaether, Christoph, Hübner, Christian A, Hennings, J Christopher, Timmerman, Vincent, Farrell, Sandra A, Pamminger, Torsten, Kurth, Ingo, Topaloglu, Haluk, Nürnberg, Peter
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Agriculture Animal Genetics and Genomics Animals Apoptosis Biological and medical sciences Biomedical and Life Sciences Biomedicine brief-communication Cancer Research Cells Disease Female Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genetic aspects Genetics Genetics of eukaryotes. Biological and molecular evolution Golgi apparatus Golgi Apparatus - metabolism Grants Health aspects Hereditary Sensory and Autonomic Neuropathies - genetics Hereditary Sensory and Autonomic Neuropathies - metabolism Hereditary Sensory and Autonomic Neuropathies - pathology Human Genetics Humans Male Membrane Proteins - genetics Membrane Proteins - metabolism Mice Mutation Neoplasm Proteins - genetics Nervous system Pedigree Peripheral nerve diseases Physiological aspects Risk factors RNA Interference Studies Survival
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