# Adnp regulates axogenesis and dendritogenesis in the developing cortex

> **NIH NIH F31** · DREXEL UNIVERSITY · 2021 · $46,036

## Abstract

Project Summary/Abstract
 Mutations in Activity-dependent neuroprotective protein (ADNP) lead to “ADNP syndrome” which is
characterized by a variety of developmental deficits including mild to severe intellectual disability (ID), Autism
spectrum disorder (ASD), epilepsy, speech and motor delay, brain abnormalities, and behavioral problems.
Although pathogenic mutations in ADNP are well characterized, the etiology of ADNP syndrome remains elusive
and subsequently there are no treatments for this disorder. Truncating and frameshift mutations occur along the
length of ADNP and are hypothesized to lead to loss of function. To understand how loss of Adnp affects brain
development, it is important to define Adnp’s cellular functions, particularly in early stages upon which sequential
stages rely. Neuritogenesis is an early foundational stage of brain development which when disrupted, can lead
to systems level changes in functional connectivity. Functional connectivity is often disrupted in disorders that
share symptomology with ADNP syndrome. Thus, changes in neuritogenesis and functional connectivity are of
interest when uncovering the etiology of ADNP syndrome. Our preliminary data suggest Adnp is an important
regulator of cortical neurite formation in layer 2/3 pyramidal neurons, with loss of Adnp resulting in a variety of
morphological changes including increased basal dendrite number but decreased length, and increased axon
length. We hypothesize that these morphological changes have pathological effects on functional cortical
connectivity. Our preliminary data suggest that Adnp regulates axo- and dendritogenesis by promoting MT
polymerization and regulating MT sliding. This proposal aims to uncover the details of this cellular mechansim.
We will also assess whether these roles influence cortical connectivity. Furthermore, we will determine the
consequences of Adnp knockdown on these cellular functions to better understand ADNP syndrome disease
etiology. These goals will not only allow us to gain a more complete understanding of Adnp’s roles during cortical
development and the etiology ADNP syndrome, but will also allow for the identification of potential therapeutic
targets.

## Key facts

- **NIH application ID:** 10232558
- **Project number:** 1F31HD103405-01A1
- **Recipient organization:** DREXEL UNIVERSITY
- **Principal Investigator:** Sarah Anne Panvini
- **Activity code:** F31 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $46,036
- **Award type:** 1
- **Project period:** 2021-04-01 → 2023-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10232558

## Citation

> US National Institutes of Health, RePORTER application 10232558, Adnp regulates axogenesis and dendritogenesis in the developing cortex (1F31HD103405-01A1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10232558. Licensed CC0.

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