Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

Maria Descartes, et al; Maria Descartes

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

Maria Descartes, et al, Maria Descartes

Research output: Contribution to journal › Article › peer-review

Original language	American English
Journal	Cell
Volume	140
State	Published - 2010

Disciplines

Physical Sciences and Mathematics

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@article{f3dab01bb7984d8cae3400f315ab2fa7,

title = "Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance",

author = "\{Descartes, et al\}, Maria and Maria Descartes",

note = "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 int ...",

year = "2010",

language = "American English",

volume = "140",

journal = "Cell",

}

TY - JOUR

T1 - Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

AU - Descartes, et al, Maria

AU - Descartes, Maria

N1 - 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 int ...

PY - 2010

Y1 - 2010

UR - https://pubmed.ncbi.nlm.nih.gov/20074521/

M3 - Article

VL - 140

JO - Cell

JF - Cell

ER -

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

Disciplines

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