Max A Tischfield
Affiliation: Johns Hopkins University
- Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesisMax A Tischfield
Department of Neurology and Ophthalmology, Manten Center for Orphan Disease Research, Children s Hospital Boston, Harvard Medical School, MA, USA
Biosci Rep 30:319-30. 2010....
- An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervationGustav Y Cederquist
Department of Neurology, Boston Children s Hospital, Boston, MA, USA
Hum Mol Genet 21:5484-99. 2012..Together with previous studies, these findings highlight that β-tubulin isotypes function in both conserved and divergent ways to support proper human nervous system development...
- Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceMax A Tischfield
Department of Neurology, Children s Hospital Boston, Boston, MA 02115, USA
Cell 140:74-87. 2010..These findings demonstrate that normal TUBB3 is required for axon guidance and maintenance in mammals...
- Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear DefectsJong G Park
Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA Department of Neurology, Boston Children s Hospital, Boston, MA 02115, USA F M Kirby Neurobiology Center, Boston Children s Hospital, Boston, MA 02115, USA Department of Neurology, Harvard Medical School, Boston, MA 02115, USA Duke University School of Medicine, Durham, NC 27710, USA
Am J Hum Genet 98:1220-7. 2016..Thus, we present evidence that the primary cause of DRS is failure of the abducens nerve to fully innervate the lateral rectus muscle in early development. ..