# Integrity and localization of Mitochondria in Menkes Disease Pathogenesis

> **NIH NIH K00** · EMORY UNIVERSITY · 2023 · $84,750

## Abstract

PROJECT ABSTRACT
The development of the nervous system involves the specification of neural progenitors and eventual
differentiation into mature neurons. Each step in this process is achieved through changes in cell fate and is
coordinated by precise expression and function of transcription factors (TFs). Sox proteins are a large family of
TFs that along with partner proteins, regulate the production, differentiation, and maturation of cells in the
nervous system. Previous studies have shown that Sox11, a member of the SoxC family, is dynamically
expressed in Xenopus laevis (frog) and Mus musculus (mouse) neural development and plays similar roles in
promoting neuronal differentiation in each system. While deficits in Sox11 function have been implicated in
neurodevelopmental disorders and malformations in the cerebral cortex and spinal cord, molecular mechanisms
of Sox11 function remain poorly understood. To address this, the F99 phase of this proposal will investigate
Sox11's diverse role in neural development using two models - frog and mouse - in order to characterize Sox11
function in distinct models. Results from these studies will provide critical information about neural development
and chages in TF function over evolutionary time, and may provide information on Sox11's potential role in neural
injury and plasticity and, possibly, even cancer. Completion of the F99 phase sets a strong intellectual, technical
and professional foundation for the postdoctoral (K00) phase of this award. During the K00 phase, training in
understanding how neuronal identity is generated and whether deficits may lead to neurodevelopmental
disorders will develop knowledge, expertise, and skills essential to becoming an independent investigator.

## Key facts

- **NIH application ID:** 10685619
- **Project number:** 5K00NS108539-06
- **Recipient organization:** EMORY UNIVERSITY
- **Principal Investigator:** Kaela S. Singleton
- **Activity code:** K00 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2023
- **Award amount:** $84,750
- **Award type:** 5
- **Project period:** 2018-07-01 → 2023-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10685619

## Citation

> US National Institutes of Health, RePORTER application 10685619, Integrity and localization of Mitochondria in Menkes Disease Pathogenesis (5K00NS108539-06). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10685619. Licensed CC0.

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