Related Experiment Video

Updated: Nov 2, 2025

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

38.8K

Impaired Binding to Junctophilin-2 and Nanostructural Alteration in CPVT Mutation

Liheng Yin1, Alexandra Zahradnikova1, Riccardo Rizzetto1

  • 1Signaling and Cardiovascular Pathophysiology - UMR-S 1180, Inserm, Université Paris-Saclay 92296 Châtenay-Malabry, France (L.Y., A.Z., R.R., P.J., E.M.-S., O.V., L.L., Y.Y.W., P.M., P.G., R.P., J.L.A., J.-P.B., A.M.G.).

Circulation Research
|June 11, 2021
PubMed

Keywords:
action potentialcalciumjunctophilinmutationryanodine receptorventricular tachycardia

More Related Videos

Biotinylated Cell-penetrating Peptides to Study Intracellular Protein-protein Interactions10:26

Biotinylated Cell-penetrating Peptides to Study Intracellular Protein-protein Interactions

Published on: December 20, 2017

9.7K
Aip1p Dynamics Are Altered by the R256H Mutation in Actin08:57

Aip1p Dynamics Are Altered by the R256H Mutation in Actin

Published on: July 30, 2014

8.1K

Related Concept Videos

Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
342
Pinching-off of Coated Vesicles01:32

Pinching-off of Coated Vesicles

Vesicle budding is orchestrated by distinct cytosolic proteins such as adaptor proteins, coat proteins, and GTPases. To initiate vesicle budding, membrane-bending proteins containing crescent-shaped BAR domains bind to the lipid heads in the bilayer and distort the membrane to form a protein-coated vesicle bud. Adaptors proteins such as AP2 for clathrin-coated vesicles can nucleate on the deformed membrane. Finally, coat proteins such as clathrin or COPI and COPII assemble into a coat forming...
3.6K
Mutations01:39

Mutations

Overview
87.5K