Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Cross-bridge Cycle01:26

Cross-bridge Cycle

118.2K
As muscle contracts, the overlap between the thin and thick filaments increases, decreasing the length of the sarcomere—the contractile unit of the muscle—using energy in the form of ATP. At the molecular level, this is a cyclic, multistep process that involves binding and hydrolysis of ATP, and movement of actin by myosin.
118.2K
Export of Misfolded Proteins out of the ER01:32

Export of Misfolded Proteins out of the ER

3.9K
After folding, the ER assesses the quality of secretory and membrane proteins. The correctly folded proteins are cleared by the calnexin cycle for transport to their final destination, while misfolded proteins are held back in the ER lumen. The ER chaperones attempt to unfold and refold the misfolded proteins but sometimes fail to achieve the correct native conformation. Such terminally misfolded proteins are then exported to the cytosol by ER-associated degradation or ERAD pathway for...
3.9K
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

700
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
700
REM Sleep Behavior Disorder01:15

REM Sleep Behavior Disorder

373
REM Sleep Behavior Disorder (RBD) is a sleep disorder characterized by the absence of muscle paralysis that normally occurs during the REM phase of sleep. This absence allows individuals to physically act out their dreams, which are often vivid and disturbing. Common behaviors exhibited during episodes include kicking, punching, and yelling. These actions can be dangerous, potentially leading to injuries for the person with RBD or their bed partner.
RBD is significantly associated with...
373
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

2.0K
Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
2.0K
Amyloid Fibrils03:03

Amyloid Fibrils

9.8K
Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining,...
9.8K

You might also read

Related Articles

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

Sort by
Same author

Preparing Amyotrophic Lateral Sclerosis Clinics to Provide Longitudinal Care for Individuals Carrying ALS Risk Variants.

Neurology. Genetics·2026
Same author

Genomic features do not account for differences in multiple myeloma risk by ancestry.

Blood cancer discovery·2026
Same author

The New York Genome Center ALS Consortium resource integrates postmortem tissue transcriptomics and whole genome sequencing to empower biological discovery.

medRxiv : the preprint server for health sciences·2026
Same author

Comprehensive Molecular Characterization of High-Grade Endometrial Cancer in an Ancestrally Diverse Cohort.

bioRxiv : the preprint server for biology·2026
Same author

Single-nucleus multiome sequencing identifies candidate regulators of mouse gastric epithelial homeostasis.

bioRxiv : the preprint server for biology·2026
Same author

A Single-Cell Atlas of Uterine Carcinosarcoma from Diverse Ancestries.

bioRxiv : the preprint server for biology·2026
Same journal

Tau protein as a regulator of mitochondrial function and dynamics.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same journal

A scalable, dividing cell model for the robust propagation and quantification of human sporadic Creutzfeldt-Jakob disease prions.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same journal

Epigenetic regulation of mesenchymal BMP signaling directs postnatal organ innervation.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same journal

Single-shot wide-field biochemical imaging at 1 kHz frame rate.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same journal

Morphogenesis and topological evolution of a frustrated nematic liquid crystal under confinement.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same journal

B cell-intrinsic CXCR3 drives efficient generation of ectopic pulmonary germinal center responses to influenza A virus infection.

Proceedings of the National Academy of Sciences of the United States of America·2026
See all related articles

Related Experiment Video

Updated: Sep 6, 2025

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
08:16

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

Published on: March 4, 2014

32.2K

Retromer dysfunction in amyotrophic lateral sclerosis.

Eduardo J Pérez-Torres1,2, Irina Utkina-Sosunova2,3, Vartika Mishra1,2

  • 1Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY 10032.

Proceedings of the National Academy of Sciences of the United States of America
|June 24, 2022
PubMed
Summary
This summary is machine-generated.

Reduced retromer proteins (VPS35, VPS26A, VPS29) are found in amyotrophic lateral sclerosis (ALS). Modulating VPS35 levels impacts disease progression in ALS mouse models, suggesting retromer

Keywords:
ALSneurodegenerationretromer

More Related Videos

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
08:59

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

2.7K
Repeated Measurement of Respiratory Muscle Activity and Ventilation in Mouse Models of Neuromuscular Disease
09:24

Repeated Measurement of Respiratory Muscle Activity and Ventilation in Mouse Models of Neuromuscular Disease

Published on: April 17, 2017

13.1K

Related Experiment Videos

Last Updated: Sep 6, 2025

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
08:16

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

Published on: March 4, 2014

32.2K
Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
08:59

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

2.7K
Repeated Measurement of Respiratory Muscle Activity and Ventilation in Mouse Models of Neuromuscular Disease
09:24

Repeated Measurement of Respiratory Muscle Activity and Ventilation in Mouse Models of Neuromuscular Disease

Published on: April 17, 2017

13.1K

Area of Science:

  • Molecular Biology
  • Neuroscience
  • Cell Biology

Background:

  • Retromer is a crucial protein complex involved in endosomal sorting and trafficking.
  • Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting motor neurons.
  • Dysregulation of protein trafficking pathways is implicated in neurodegenerative disorders.

Purpose of the Study:

  • To investigate the role of retromer components in amyotrophic lateral sclerosis (ALS).
  • To determine the impact of retromer alterations on disease progression in an ALS mouse model.
  • To explore therapeutic strategies targeting retromer function in ALS.

Main Methods:

  • Quantification of retromer proteins (VPS35, VPS26A, VPS29) in human ALS patients and a transgenic mouse model (Tg SOD1G93A).
  • Assessment of GluA1 receptor subunit levels as a functional marker of retromer activity in mouse spinal cords.
  • In vivo manipulation of VPS35 levels using viral vectors in Tg SOD1G93A mice to evaluate disease phenotype.

Main Results:

  • Reduced levels of VPS35, VPS26A, and VPS29 were observed in ALS patients and Tg SOD1G93A mice.
  • A decrease in GluA1 levels correlated with retromer deficits in the spinal cords of Tg SOD1G93A mice.
  • Overexpression of VPS35 exacerbated ALS phenotype, while reducing VPS35 levels ameliorated disease progression in mice.

Conclusions:

  • Mild alterations in retromer function inversely modulate neurodegeneration in ALS.
  • Retromer complex integrity and function are critical in the context of ALS pathogenesis.
  • Targeting retromer pathways may offer a novel therapeutic approach for ALS.