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

Search research articles

Related Experiment Video

Updated: Jun 18, 2026

Modeling Age-Associated Neurodegenerative Diseases in Caenorhabditis elegans

Modeling Age-Associated Neurodegenerative Diseases in Caenorhabditis elegans

Published on: August 15, 2020

eEF1A2 and neuronal degeneration.

Catherine M Abbott¹, Helen J Newbery, Charlotte E Squires

¹Medical Genetics Section, Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh EH4 2XU, UK. Abbott@ed.ac.uk

Biochemical Society Transactions

|November 14, 2009

Summary

This summary is machine-generated.

Related Concept Videos

Nonsense-mediated mRNA Decay

Nonsense-mediated mRNA Decay

The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...

You might also read

Related Articles

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

Sort by

Same author

A progeria syndrome links DNA hypermethylation to age-related pathology.

Nature genetics·2026

Same author

Better statistical reporting does not lead to statistical rigour: lessons from two decades of pseudoreplication in mouse-model studies of neurological disorders.

Molecular autism·2025

Same author

Under pressure: UK preclinical neuroscience at a crossroads.

Brain and neuroscience advances·2025

Same author

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

European journal of human genetics : EJHG·2024

Same author

eEF1A2 promotes PTEN-GSK3β-SCF complex-dependent degradation of Aurora kinase A and is inactivated in breast cancer.

Science signaling·2024

Same author

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

European journal of human genetics : EJHG·2024

The wasted mouse mutation reveals eukaryotic elongation factor 1A-2 (eEF1A2) is crucial for motor neuron survival. Loss of eEF1A2 causes motor neuron degeneration, making wasted mice a model for early-onset motor neuron disease.

Area of Science:

Molecular Biology
Neuroscience
Genetics

Background:

Mammals express two similar variants of translation elongation factor eEF1A: eEF1A1 (ubiquitous) and eEF1A2 (restricted expression).
The 'wasted' mouse mutation involves a deletion affecting the eEF1A2 gene, leading to a progressive neuromuscular disorder after weaning.
Expression patterns of eEF1A1 and eEF1A2 are inversely correlated with the onset of the wasted phenotype.

Purpose of the Study:

To investigate the role of eEF1A2 in motor neuron function and the pathogenesis of the wasted mouse phenotype.
To determine if the wasted mouse model is relevant for studying motor neuron diseases.

Main Methods:

Analysis of gene expression patterns of eEF1A1 and eEF1A2 in normal and wasted mice.
Transgenic studies to confirm the role of eEF1A2 in the wasted phenotype.

Related Experiment Videos

Last Updated: Jun 18, 2026

Modeling Age-Associated Neurodegenerative Diseases in Caenorhabditis elegans

Modeling Age-Associated Neurodegenerative Diseases in Caenorhabditis elegans

Published on: August 15, 2020

Molecular modeling of eEF1A1 and eEF1A2 protein structures.

Examination of interactions between eEF1A2, ZPR1, and SMN proteins.

Main Results:

The deletion in wasted mice specifically removes the eEF1A2 gene promoter and first exon, causing loss of functional eEF1A2.
eEF1A2 is highly expressed in spinal cord motor neurons, while eEF1A1 is not.
Wasted mice exhibit pathological features consistent with motor neuron degeneration.
Molecular modeling suggests functional differences between eEF1A1 and eEF1A2.

Conclusions:

Loss of eEF1A2 function is the sole cause of the wasted phenotype.
eEF1A2 is essential for motor neuron maintenance and survival.
The wasted mouse is a valuable model for studying early-onset motor neuron diseases.
Interactions involving eEF1A2, ZPR1, and SMN may be critical for motor neuron health.