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 Experiment Videos

Giant axonal neuropathy.

Y Yang1, E Allen, J Ding

  • 1Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, California 94305-5489, USA. yanmin.yang@stanford.edu

Cellular and Molecular Life Sciences : CMLS
|January 27, 2007
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Smartphone-based hyperspectral imaging for ice sheet and proglacial applications in South-West Greenland.

The Science of the total environment·2024
Same author

Is being a victim of bullying or cyberbullying in secondary school associated with subsequent risk-taking behavior in adolescence? A longitudinal study in secondary schools.

Journal of adolescence·2022
Same author

Feasibility and acceptability of a whole-school social-marketing intervention to prevent unintended teenage pregnancies and promote sexual health: evidence for progression from a pilot to a phase III randomised trial in English secondary schools.

Pilot and feasibility studies·2022
Same author

Study of Flare Assessment in Systemic Lupus Erythematosus Based on Paper Patients.

Arthritis care & research·2017
Same author

Building Capability for Clinical Pharmacology Research in Sub-Saharan Africa.

Clinical pharmacology and therapeutics·2017
Same author

Impact of baseline vitamin B12 status on the effect of vitamin B12 supplementation on neurologic function in older people: secondary analysis of data from the OPEN randomised controlled trial.

European journal of clinical nutrition·2017

Giant axonal neuropathy (GAN) is a rare genetic disorder affecting the nervous system. Research shows gigaxonin protein defects disrupt cytoskeletal dynamics via the ubiquitin-proteasome system, leading to neurodegeneration.

Area of Science:

  • Neuroscience
  • Genetics
  • Cell Biology

Background:

  • Giant axonal neuropathy (GAN) is a rare autosomal recessive disorder impacting the central and peripheral nervous systems.
  • Pathologically, GAN is defined by enlarged axons and disrupted cytoskeletal components.
  • The gene responsible, GAN, has been identified, with numerous mutations reported globally.

Purpose of the Study:

  • To investigate the molecular mechanisms underlying GAN.
  • To understand the role of the gigaxonin protein in cytoskeletal regulation.
  • To explore the involvement of the ubiquitin-proteasome system (UPS) in GAN-related neurodegeneration.

Main Methods:

  • Gene cloning and identification of the GAN locus.
  • Generation of a genetic mouse model for GAN.

Related Experiment Videos

  • Studies on gigaxonin's function in cytoskeletal protein degradation.
  • Analysis of the ubiquitin-proteasome system in GAN-null neurons.

    • Main Results:

    • Gigaxonin plays a critical role in regulating cytoskeletal dynamics through ubiquitin-mediated protein degradation.
    • Defects in the UPS lead to aberrant accumulation of cytoskeletal proteins in GAN-null neurons.
    • These accumulations are linked to the neurodegeneration observed in GAN.

    Conclusions:

    • The ubiquitin-proteasome system is crucial for maintaining cytoskeletal functions and dynamics.
    • Dysfunctional UPS and gigaxonin defects contribute significantly to the pathogenesis of Giant axonal neuropathy.
    • Further research is needed to address remaining questions regarding GAN.