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Title:

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

Document type:
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.
Author(s):
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...     »
Journal title abbreviation:
Cell
Year:
2010
Journal volume:
140
Journal issue:
1
Pages contribution:
74-87
Language:
eng
Fulltext / DOI:
doi:10.1016/j.cell.2009.12.011
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/20074521
Print-ISSN:
0092-8674
TUM Institution:
Frauenklinik und Poliklinik; Institut für Humangenetik
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