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

Nature Genetics

Volumn 41, Issue 11, 2009, Pages 1179-1181

  Kurth, Ingo ^a   Pamminger, Torsten ^b   Hennings, J Christopher ^b   Soehendra, Désirée ^a   Huebner, Antje K ^b   Rotthier, Annelies ^c,d   Baets, Jonathan ^c,d   Senderek, Jan ^e   Topaloglu, Haluk ^f   Farrell, Sandra A ^g   Nürnberg, Gudrun ^h,i   Nürnberg, Peter ^h,i   De Jonghe, Peter ^c,d   Gal, Andreas ^a   Kaether, Christoph ^j   Timmerman, Vincent ^c,d   Hübner, Christian A ^a,b  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e ETH ZURICH   (Switzerland)

^f HACETTEPE UNIVERSITY   (Turkey)

^g CREDIT VALLEY HOSPITAL   (Canada)

^h UNIVERSITY OF COLOGNE   (Germany)

ⁱ Institute for Genetics

^j FRITZ LIPMANN INSTITUTE   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; PROTEIN FAM134B; UNCLASSIFIED DRUG;

ARTICLE; AUTONOMIC NEUROPATHY; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENETIC CODE; GOLGI COMPLEX; HUMAN; NERVE; NERVE CELL; PRIORITY JOURNAL; SENSORY NEUROPATHY;

ADULT; ANIMALS; FEMALE; GOLGI APPARATUS; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MALE; MEMBRANE PROTEINS; MICE; MUTATION; NEOPLASM PROTEINS; PEDIGREE; RNA INTERFERENCE;

EID: 70350646901     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.464     Document Type: Article

References (15)

1. Hughes, R. Pract. Neurol. 8, 396-405 (2008).
2. Lafreniere, R.G. et al. Am. J. Hum. Genet. 74, 1064-1073 (2004).
3. Shekarabi, M. et al. J. Clin. Invest. 118, 2496-2505 (2008).
4. Tang, W.K. et al. Int. J. Mol. Med. 19, 915-923 (2007).
5. Linstedt, A.D. & Hauri, H.P. Mol. Biol. Cell 4, 679-693 (1993).
6. Donaldson, J.G. & Lippincott-Schwartz, J. Cell 101, 693-696 (2000).
7. Seemann, J., Jokitalo, E., Pypaert, M. & Warren, G. Nature 407, 1022-1026 (2000).
8. Voeltz, G.K., Prinz, W.A., Shibata, Y., Rist, J.M. & Rapoport, T.A. Cell 124, 573-586 (2006).
9. Altan-Bonnet, N. Methods Mol. Biol. 390, 309-328 (2007).
10. Harper, A.A. & Lawson, S.N. J. Physiol. (Lond.) 359, 31-46 (1985).
11. Levi-Montalcini, R. Science 237, 1154-1162 (1987).
12. Indo, Y. et al. Nat. Genet. 13, 485-488 (1996).
13. Einarsdottir, E. et al. Hum. Mol. Genet. 13, 799-805 (2004).
14. Lu, B., Pang, P.T. & Woo, N.H. Nat. Rev. Neurosci. 6, 603-614 (2005).
15. Züchner, S. & Vance, J.M. J. Mol. Med. 83, 935-943 (2005).