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

Menkes disease.

I Bertini1, A Rosato

  • 1Magnetic Resonance Center (CERM), University of Florence, Via L.Sacconi 6, 50019, Sesto Fiorentino, Italy. ivanobertini@cerm.unifi.it

Cellular and Molecular Life Sciences : CMLS
|November 9, 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

Author Correction: Evidence for multi-fragmentation and mass shedding of boulders on rubble-pile binary asteroid system (65803) Didymos.

Nature communications·2024
Same author

Evidence for multi-fragmentation and mass shedding of boulders on rubble-pile binary asteroid system (65803) Didymos.

Nature communications·2024
Same author

Fast boulder fracturing by thermal fatigue detected on stony asteroids.

Nature communications·2024
Same author

The Dimorphos ejecta plume properties revealed by LICIACube.

Nature·2024
Same author

A comprehensive review of healthy effects of vegetarian diets.

Nutrition, metabolism, and cardiovascular diseases : NMCD·2023
Same author

Hyaluronan as an immunological adjuvant: a novel application for an ancient molecule.

Cellular & molecular immunology·2023
Same journal

Single-Cell dissection of fibrodysplasia ossificans progressiva identifies SPP1 as a mediator of macrophage-fibroadipogenic progenitors crosstalk.

Cellular and molecular life sciences : CMLS·2026
Same journal

Ablation of the renal tubular gluconeogenic enzyme PCK1 drives AKI-to-CKD transition by negatively regulating the TGF-β/Smad3 signaling pathway.

Cellular and molecular life sciences : CMLS·2026
Same journal

LncRNA modulates Dpp-mediated wing development to influence flight in Aedes aegypti.

Cellular and molecular life sciences : CMLS·2026
Same journal

TROP2 promotes bone metastasis of colorectal cancer through interaction with the fibronectin-integrin axis.

Cellular and molecular life sciences : CMLS·2026
Same journal

PRMT5-Cacna1d axis maintains calcium homeostasis to regulate postnatal motor development in mice.

Cellular and molecular life sciences : CMLS·2026
Same journal

Advances and clinical potential of epigenome editing.

Cellular and molecular life sciences : CMLS·2026
See all related articles

Menkes disease stems from mutations in the ATP7A gene, crucial for copper transport. Understanding ATP7A

Area of Science:

  • Biochemistry
  • Cell Biology
  • Genetics

Background:

  • Menkes disease is a rare genetic disorder.
  • It results from mutations in the copper-transporting ATPase gene, ATP7A.
  • ATP7A plays a vital role in copper homeostasis and delivery to enzymes.

Purpose of the Study:

  • To elucidate the unknown mechanisms of copper sensing by ATP7A.
  • To understand the cellular trafficking of ATP7A in response to copper levels.
  • To investigate the molecular details of copper translocation across cellular membranes.

Main Methods:

  • The study likely involves molecular biology techniques.
  • Cellular assays to track protein localization.
  • Biochemical analyses of copper binding and transport.

Related Experiment Videos

Main Results:

  • The abstract does not contain specific results.
  • Further research is needed to determine the outcomes of these investigations.

Conclusions:

  • The precise mechanisms governing ATP7A function remain largely unknown.
  • Further investigation is required to fully understand copper transport and Menkes disease pathogenesis.