Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

Abstract excerpt

A spectrum of neurological disorders characterized by abnormal neuronal migration, differentiation, and axon guidance and maintenance have recently been attributed to missense and splice-site mutations in the genes that encode α-tubulin and β-tubulin isotypes TUBA1A, TUBA8, TUBB2B, and TUBB3, all of which putatively coassemble into neuronal microtubules. The resulting nervous system malformations can include...

Topics

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• Microtubules
• Mutation, Missense
• Nervous System Diseases
• Neurons
• Phenotype