Article
Novel α-tubulin mutation disrupts neural development and tubulin proteostasis.
Developmental biology - 15 Jan 2016
Gartz Hanson M, Aiken Jayne, Sietsema Daniel V, Sept David, Bates Emily A, Niswander Lee, Moore Jeffrey K
Abstract excerpt
Mutations in the microtubule cytoskeleton are linked to cognitive and locomotor defects during development, and neurodegeneration in adults. How these mutations impact microtubules, and how this alters function at the level of neurons is an important area of investigation. Using a forward genetic screen in mice, we identified a missense mutation in Tuba1a α-tubulin that disrupts cortical and motor neuron...
Topics
- Amino Acid Sequence
- Animals
- Axons
- Disease Models, Animal
- Embryo, Mammalian
- Epistasis, Genetic
- Female
- Genetic Testing
- Male
- Mice, Inbred C57BL
- Microtubules
- Molecular Sequence Data
- Motor Activity
- Motor Endplate