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Related Experiment Video

Updated: May 7, 2026

Ion Mobility-Mass Spectrometry Techniques for Determining the Structure and Mechanisms of Metal Ion Recognition and Redox Activity of Metal Binding Oligopeptides
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Ion Mobility-Mass Spectrometry Techniques for Determining the Structure and Mechanisms of Metal Ion Recognition and Redox Activity of Metal Binding Oligopeptides

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Wilson's disease, 100 years later….

J-M Trocello1, E Broussolle, N Girardot-Tinant

  • 1French National Reference Centre for Wilson's Disease, Hôpital Lariboisière, Assistance publique-Hôpitaux de Paris, 2, rue Ambroise-Paré, 75010 Paris, France.

Revue Neurologique
|October 15, 2013
PubMed
Summary

Wilson's disease (WD) is a genetic disorder characterized by copper accumulation. Over 100 years, research has advanced diagnosis and treatment, revealing its multisystemic nature and genetic complexity.

Keywords:
CeruloplasminCeruloplasmineCuivre échangeable relatifKinnier WilsonMaladie de WilsonMouvements anormauxMovement disordersRelative exchangeable copperWilson's disease

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Last Updated: May 7, 2026

Ion Mobility-Mass Spectrometry Techniques for Determining the Structure and Mechanisms of Metal Ion Recognition and Redox Activity of Metal Binding Oligopeptides
11:04

Ion Mobility-Mass Spectrometry Techniques for Determining the Structure and Mechanisms of Metal Ion Recognition and Redox Activity of Metal Binding Oligopeptides

Published on: September 7, 2019

8.3K

Area of Science:

  • Genetics and Molecular Biology
  • Hepatology
  • Neurology

Background:

  • Wilson's disease (WD) was first described in 1912, with early hypotheses of an "unknown toxin" foreshadowing the discovery of copper's role.
  • The ATP7B gene on chromosome 13 is implicated, with over 500 mutations and 100 polymorphisms identified, contributing to variable disease expression.

Observation:

  • WD presents with diverse symptoms, including hepatic, neurological, renal, osteoarticular, myocardial, and endocrine manifestations, highlighting its multisystemic nature.
  • Phenotypic variability, even within families, is influenced by genetic factors and environmental influences like nutrition.

Findings:

  • Diagnosis integrates clinical, biological, radiological, and genetic data, aided by advanced tools like Brain MRI and measurements of exchangeable copper.
  • Current treatments involve copper chelators (D-penicillamine, Triethylenetetramine) and zinc salts to manage copper levels, with tetrathiomolybdate showing promise.

Implications:

  • Despite significant progress in understanding and managing Wilson's disease over the past century, many physiological aspects remain to be elucidated.
  • Continued research is crucial to fully understand WD's pathophysiology and develop even more effective therapeutic strategies for the future.