Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Education Research: Educational Informatics: Characterizing Child Neurology Resident Clinical Experiences Using Electronic Health Record Data.

Neurology. Education·2026

Same author

<i>RAI1</i> safeguards fidelity and tempo of human neurodevelopmental gene expression.

bioRxiv : the preprint server for biology·2026

Same author

Kv7.2 loss-of-function causes early hyperexcitability and network remodelling.

Brain : a journal of neurology·2026

Same author

The Role of the Cellular Communication Network Protein Family in Pulmonary Arterial Hypertension.

Pulmonary circulation·2026

Same author

Acarbose improves cognitive function in a mouse model of normal aging but not Alzheimer's disease.

bioRxiv : the preprint server for biology·2026

Same author

STRADA deficiency impairs cortical interneuron development in humans and mice.

bioRxiv : the preprint server for biology·2026

Same journal

Brief mechanical pulses induce sustained intracellular L-lactate production in astrocytes.

Frontiers in cellular neuroscience·2026

Same journal

Effects of ethanol leaf extract of <i>Spondias mombin</i> on scopolamine-induced hippocampal neurodegeneration in adult male Wistar rats: evidence from behavioral, biochemical, histological, and immunohistochemical analyses.

Frontiers in cellular neuroscience·2026

Same journal

Ferroptosis in intracerebral hemorrhage: a bibliometric overview of mechanisms and future directions.

Frontiers in cellular neuroscience·2026

Same journal

<i>Scn2a</i>, encoding Na <sub><i>V</i></sub> 1.2 channel, contributes to tonotopic maturation of spike kinetics in developing mouse MNTB.

Frontiers in cellular neuroscience·2026

Same journal

From cellular heterogeneity to precision medicine: single-cell multi-omics in CNS disease research.

Frontiers in cellular neuroscience·2026

Same journal

Mesenchymal stromal/stem cells for neurological disorders in humans: an evidence-mapped clinical review.

Frontiers in cellular neuroscience·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Dec 20, 2025

Modeling the Functional Network for Spatial Navigation in the Human Brain

Modeling the Functional Network for Spatial Navigation in the Human Brain

Published on: October 13, 2023

Multimodal Analysis of STRADA Function in Brain Development.

Louis T Dang^1,2, Katarzyna M Glanowska^1,3, Philip H Iffland Ii⁴

¹Department of Neurology, Michigan Medicine, Ann Arbor, MI, United States.

Frontiers in Cellular Neuroscience

|May 28, 2020

Summary

This summary is machine-generated.

Loss of STRAD-α (STRADA) causes mTORopathies, leading to brain malformations and epilepsy. This study reveals STRADA is crucial for regulating cell size, neuronal function, and brain development.

Keywords:

epilepsy iPSC mTOR megalencephaly mouse seizure

More Related Videos

Co-analysis of Brain Structure and Function using fMRI and Diffusion-weighted Imaging

Co-analysis of Brain Structure and Function using fMRI and Diffusion-weighted Imaging

Published on: November 8, 2012

Probing the Brain in Autism Using fMRI and Diffusion Tensor Imaging

Probing the Brain in Autism Using fMRI and Diffusion Tensor Imaging

Published on: September 12, 2011

Related Experiment Videos

Last Updated: Dec 20, 2025

Modeling the Functional Network for Spatial Navigation in the Human Brain

Modeling the Functional Network for Spatial Navigation in the Human Brain

Published on: October 13, 2023

Co-analysis of Brain Structure and Function using fMRI and Diffusion-weighted Imaging

Co-analysis of Brain Structure and Function using fMRI and Diffusion-weighted Imaging

Published on: November 8, 2012

Probing the Brain in Autism Using fMRI and Diffusion Tensor Imaging

Probing the Brain in Autism Using fMRI and Diffusion Tensor Imaging

Published on: September 12, 2011

Area of Science:

Neuroscience
Genetics
Developmental Biology

Background:

mTORopathies are neurological disorders linked to mTOR pathway dysregulation, causing cortical malformations and epilepsy.
Mutations in STRADA, an mTOR modulator, cause Pretzel Syndrome, a neurodevelopmental disorder with severe epilepsy and intellectual disability.

Purpose of the Study:

To investigate the cellular mechanisms underlying STRADA loss in mTORopathies.
To elucidate STRADA's role in regulating mTOR signaling, cell size, neuronal excitability, and cortical development.

Main Methods:

Generated CRISPR-edited mouse N2a cells lacking Strada.
Created a germline mouse Strada knockout (KO-/-) strain.
Utilized induced pluripotent stem cell (iPSC)-derived neurons from individuals with Pretzel Syndrome.

Main Results:

Strada KO in vitro and iPSC-derived neurons from patients showed enhanced mTOR signaling and increased cell size.
Strada-/- mice exhibited high perinatal mortality, hypotonia, tremors, ventriculomegaly, and ectopic neurons in the white matter.
Neurons from PS individuals displayed altered electrical properties, including increased input resistance and a lower action potential threshold.

Conclusions:

STRADA is a critical regulator of mTOR signaling, impacting cell size, neuronal excitability, and cortical lamination.
Loss of STRADA function leads to mTORopathies with distinct neurodevelopmental and epilepsy phenotypes.
This research provides insights into the pathogenesis of Pretzel Syndrome and related mTORopathies.