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

Amyloid Fibrils

Amyloid Fibrils

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, normally used to...

Amyloid Fibrils

Amyloid Fibrils

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, normally used to...

Parkinson Disease ll: Pathophysiology

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...

Alzheimer Disease ll: Pathophysiology

Alzheimer Disease ll: Pathophysiology

Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...

Export of Misfolded Proteins out of the ER

Export of Misfolded Proteins out of the ER

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...

The Proteasome

The Proteasome

Eukaryotic cells can degrade proteins through several pathways. One of the most important among these is the ubiquitin-proteasome pathway. It helps the cell eliminate the misfolded, damaged, or unwarranted cytoplasmic proteins in a highly specific manner.
In this pathway, the target proteins are first tagged with small proteins called ubiquitin. This involves participation of a series of enzymes including— E1 (ubiquitin-activating enzyme), E2 (ubiquitin-conjugating enzyme), and E3 (ubiquitin...

You might also read

Related Articles

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

Sort by

Same author

Global transcriptional changes across multiple isogenic <i>C9orf72</i> patient iPSC-derived neurons.

iScience·2026

Same author

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.

Nature genetics·2026

Same author

A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions.

Nature genetics·2026

Same author

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.

Translational neurodegeneration·2025

Same author

The role of mitochondrial genetics in Parkinson's disease: Long-read sequencing as an emerging method.

Med (New York, N.Y.)·2025

Same author

Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders.

HGG advances·2025

Same journal

Charcot-Marie-Tooth type 4 C misdiagnosed as CIDP: electrodiagnostic pitfalls and genetic confirmation.

Neurogenetics·2026

Same journal

Phenotypic expansion and structural analysis of the IQSEC2 p.Asp894Asn variant in a consanguineous Pashtun family.

Neurogenetics·2026

Same journal

Correction to: Identification of critical genes and drug repurposing targets in entorhinal cortex of Alzheimer's disease.

Neurogenetics·2026

Same journal

Behavioral variant frontotemporal dementia associated with a NEK1 missense variant: exploring a possible phenotypic association.

Neurogenetics·2026

Same journal

Adult-onset dystonia associated with CHD8 truncating variants: case series and targeted literature review.

Neurogenetics·2026

Same journal

Clinical, electrophysiological, and neuroimaging characterization of childhood-onset non-5q spinal muscular atrophies: a retrospective pediatric case series.

Neurogenetics·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Jun 14, 2026

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae

Published on: February 25, 2022

RNA processing pathways in amyotrophic lateral sclerosis.

Marka van Blitterswijk¹, John E Landers

¹Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.

|March 30, 2010

Summary

This summary is machine-generated.

Mutations in RNA processing genes, like TDP-43 and FUS/TLS, are linked to amyotrophic lateral sclerosis (ALS). This suggests RNA processing defects are a key factor in ALS development.

More Related Videos

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

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

Published on: July 16, 2021

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models

Published on: March 24, 2019

Related Experiment Videos

Last Updated: Jun 14, 2026

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae

Published on: February 25, 2022

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

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

Published on: July 16, 2021

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models

Published on: March 24, 2019

Area of Science:

Molecular Biology
Neuroscience
Genetics

Background:

RNA processing is a complex, regulated pathway essential for cellular function.
Genetic mutations in RNA processing genes are increasingly associated with neurodegenerative diseases.
Amyotrophic lateral sclerosis (ALS) pathogenesis may involve disruptions in RNA metabolism.

Purpose of the Study:

To review six specific RNA processing genes linked to ALS.
To explore the discovery, function, and shared characteristics of these ALS-related genes.
To highlight the role of RNA processing in ALS etiology.

Main Methods:

Literature review of genetic associations and functional studies.
Analysis of RNA processing pathways.
Comparative study of six key ALS-related RNA processing genes.

Main Results:

Several RNA processing genes, including TDP-43 and FUS/TLS, show mutations or genetic links to ALS.
These genetic links suggest a common pathogenic mechanism in ALS.
The review details the discovery and function of six specific genes.

Conclusions:

Dysregulation of RNA processing is a significant factor in ALS.
Targeting RNA processing pathways may offer therapeutic strategies for ALS.
Further research into these genes can elucidate ALS mechanisms.