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

ATP7B (WND) protein

K Terada1, M L Schilsky, N Miura

  • 1Department of Biochemistry, Akita University School of Medicine, Japan.

The International Journal of Biochemistry & Cell Biology
|October 24, 1998
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

Neutron-Multiplicity Measurement in Muon Capture on Oxygen Nuclei in the Gadolinium-Loaded Super-Kamiokande Detector.

Physical review letters·2026
Same author

First Joint Oscillation Analysis of Super-Kamiokande Atmospheric and T2K Accelerator Neutrino Data.

Physical review letters·2025
Same author

Methotrexate prolonged the shedding of replicable SARS-CoV-2 with re-increased antigens in a rheumatoid arthritis patient.

Scandinavian journal of rheumatology·2024
Same author

Clinicopathological features of cytokeratin 5-positive pulmonary adenocarcinoma.

Histopathology·2022
Same author

Formation and evolution of carbonaceous asteroid Ryugu: Direct evidence from returned samples.

Science (New York, N.Y.)·2022
Same author

Thermal and impact histories of 25143 Itokawa recorded in Hayabusa particles.

Scientific reports·2018

Wilson's disease is a genetic disorder causing copper buildup in the liver. Gene therapy using ATP7B holds promise for treating this copper metabolism disorder.

Area of Science:

  • Genetics
  • Biochemistry
  • Molecular Biology

Background:

  • Wilson's disease is a genetic disorder of copper metabolism.
  • Characterized by excessive copper accumulation, primarily in the liver.
  • The ATP7B gene is responsible for encoding a copper-transporting ATPase.

Purpose of the Study:

  • To investigate the role of the ATP7B protein in intracellular copper trafficking.
  • To explore gene therapy as a potential treatment for Wilson's disease.

Main Methods:

  • Analysis of ATP7B gene structure and expression.
  • Studies on ATP7B protein function in hepatocytes.
  • Exploration of recombinant adenovirus-mediated gene delivery.

Main Results:

Related Experiment Videos

  • Over 60 disease-specific mutations in the ATP7B gene have been identified.
  • ATP7B protein functions as a copper transporter in hepatocytes.
  • Gene delivery of functional ATP7B protein is a feasible therapeutic strategy.

Conclusions:

  • The ATP7B gene and its protein product are central to Wilson's disease pathogenesis.
  • Understanding ATP7B's role in copper transport is crucial for treatment development.
  • Adenovirus-mediated gene delivery of ATP7B offers a potential therapeutic avenue for Wilson's disease.