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Titel:

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.

Dokumenttyp:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
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,...     »
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:
1
Seitenangaben Beitrag:
74-87
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.cell.2009.12.011
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/20074521
Print-ISSN:
0092-8674
TUM Einrichtung:
Frauenklinik und Poliklinik; Institut für Humangenetik
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