Benutzer: Gast  Login
Dokumenttyp:
journal article 
Autor(en):
Tischfield, MA; Baris, HN; Wu, C; Rudolph, G; Van Maldergem, L; He, W; Chan, WM; Andrews, C; Demer, JL; Robertson, RL; Mackey, DA; Ruddle, JB; Bird, TD; Gottlob, I; Pieh, C; Traboulsi, EI; Pomeroy, SL; Hunter, DG; Soul, JS; Newlin, A; Sabol, LJ; Doherty, EJ; de Uzcátegui, CE; de Uzcátegui, N; Collins, ML; Sener, EC; Wabbels, B; Hellebrand, H; Meitinger, T; de Berardinis, T; Magli, A; Schiavi, C; Pastore-Trossello, M; Koc, F; Wong, AM; Levin, AV; Geraghty, MT; Descartes, M; Flaherty, M; Jamieson,...    »
 
Titel:
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 
Abstract:
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tubulin isotype III, result in a spectrum of human nervous system disorders that we now call the TUBB3 syndromes. Each mutation causes the ocular motility disorder CFEOM3, whereas some also result in intellectual and behavioral impairments, facial paralysis, and/or later-onset axonal sensorimotor polyneuropathy. Neuroimaging reveals a spectrum of abnormalities including hypoplasia of oculomotor nerve...    »
 
Zeitschriftentitel:
Cell 
Jahr:
2010 
Band / Volume:
140 
Heft / Issue:
Seitenangaben Beitrag:
74-87 
Sprache:
eng 
Print-ISSN:
0092-8674 
TUM Einrichtung:
r Humangenetik; Frauenklinik und Poliklinik