# Tubulin Beta 4a in central nervous system development and disease

> **NIH NIH R01** · YALE UNIVERSITY · 2020 · $542,769

## Abstract

Nervous system development and function is critically dependent upon its microtubule-based
cytoskeleton. Microtubules are assembled from multiple α- and ß-tubulin isotypes which are encoded by
separate, evolutionarily conserved genes. Recently, mutations in the Tubulin ß4a (Tubb4a) have been
associated with a spectrum of neurological disorders in patients by sequencing studies. How mutations in the
Tubb4a gene cause these disorders is not understood. We have generated a mouse model for Tubb4a-related
developmental disorders from a forward genetic screen. Our studies will lead to insights into the mechanisms
of the human disease spectrum, as well as to fundamental information on the role of microtubules in
mammalian neural development and function.

## Key facts

- **NIH application ID:** 9938699
- **Project number:** 5R01NS097928-05
- **Recipient organization:** YALE UNIVERSITY
- **Principal Investigator:** Karel F Liem
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $542,769
- **Award type:** 5
- **Project period:** 2016-06-01 → 2022-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9938699

## Citation

> US National Institutes of Health, RePORTER application 9938699, Tubulin Beta 4a in central nervous system development and disease (5R01NS097928-05). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9938699. Licensed CC0.

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