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

Histone Variants at the Centromere

Histone Variants at the Centromere

Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

You might also read

Related Articles

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

Sort by

Same author

PIEZO1-mediated mechanosensation links aging to bladder dysfunction.

bioRxiv : the preprint server for biology·2026

Same author

DNA deformability in sequence-dependent capture of E. coli gyrase.

Nature communications·2026

Same author

Supercoiled DNA recognition and cleavage control in topoisomerase VI.

Nature communications·2026

Same author

Transient protein structure guides surface diffusion pathways for electron transport in membrane supercomplexes.

Nature communications·2026

Same author

Dynamic signature of activity-stability tradeoff in lactamase evolution.

Nature communications·2026

Same author

Alteration of the Lipid Bilayer Structure by Mg<sup>2</sup>.

Langmuir : the ACS journal of surfaces and colloids·2026

Same journal

Erratum for the Research Article "Assessing the health risks of rice cadmium content standards in China" by H. Chu <i>et al</i>.

Science advances·2026

Same journal

Erratum for the Research Article "Developmental regulation of Erk signaling by mitotic kinases" by F. Chen <i>et al</i>.

Science advances·2026

Same journal

Magnetically levitated metasurface enabling tangible and bidirectional human-machine interaction.

Science advances·2026

Same journal

A general photoinduced manganese-catalyzed platform for the sequential difunctionalization of [1.1.1]propellane.

Science advances·2026

Same journal

Turning sound and force into light with AlN:Mn<sup>2+</sup> mechanoluminescence.

Science advances·2026

Same journal

Extreme dominance of Earth-origin heavy ions in the intense ring current near the Earth during the May 2024 super geomagnetic storm.

Science advances·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Mar 27, 2026

Expression and Purification of the Human Lipid-sensitive Cation Channel TRPC3 for Structural Determination by Single-particle Cryo-electron Microscopy

Expression and Purification of the Human Lipid-sensitive Cation Channel TRPC3 for Structural Determination by Single-particle Cryo-electron Microscopy

Published on: January 7, 2019

Functional and structural basis of a hypermorphic TRPC3 variant.

Briar Bell¹, Angela M Jaramillo-Granada¹, Luis O Romero¹

¹Department of Biochemistry and Molecular Biology, Center for Membrane Biology, McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, TX, USA.

Science Advances

|March 25, 2026

Summary

This summary is machine-generated.

A TRPC3 mutation causes cerebellar ataxia by destabilizing calcium channels, leading to neurodegeneration. Restoring calcium balance and targeting a new binding site offer therapeutic strategies for this condition.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Related Experiment Videos

Last Updated: Mar 27, 2026

Expression and Purification of the Human Lipid-sensitive Cation Channel TRPC3 for Structural Determination by Single-particle Cryo-electron Microscopy

Expression and Purification of the Human Lipid-sensitive Cation Channel TRPC3 for Structural Determination by Single-particle Cryo-electron Microscopy

Published on: January 7, 2019

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Area of Science:

Neuroscience
Molecular Biology
Genetics

Background:

Cerebellar ataxias involve motor coordination deficits due to cerebellar neuronal dysfunction.
The precise mechanisms driving cerebellar neurodegeneration in these conditions are not fully understood.

Purpose of the Study:

To elucidate the molecular mechanisms underlying TRPC3-associated cerebellar ataxia.
To identify potential therapeutic targets for restoring neuronal function.

Main Methods:

Investigated a gain-of-function TRPC3 mutation using cell-based assays and structural biology techniques (cryo-electron microscopy).
Utilized molecular simulations and transgenic *Caenorhabditis elegans* models.
Assessed the impact of restoring calcium homeostasis via Purkinje cell calcium pumps.

Main Results:

A specific TRPC3 mutation stabilizes the channel's open state, resisting inhibition and causing calcium-dependent cell death.
Transgenic expression of the mutated TRPC3 induced neurodegeneration in *C. elegans*, confirming pathogenicity.
Cryo-EM and simulations revealed the structural basis for channel stabilization and identified a druggable allosteric binding site.

Conclusions:

The study explains cerebellar neuron vulnerability in TRPC3-associated ataxias.
Targeting the identified allosteric site on TRPC3 presents a potential therapeutic avenue.