Ontology highlight
ABSTRACT:
SUBMITTER: Hercend C
PROVIDER: S-EPMC3203118 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Hercend Claude C Bauvais Cyril C Bollot Guillaume G Delacotte Nicolas N Chappuis Philippe P Woimant France F Launay Jean-Marie JM Manivet Philippe P
PloS one 20111027 10
The diagnostic of orphan genetic disease is often a puzzling task as less attention is paid to the elucidation of the pathophysiology of these rare disorders at the molecular level. We present here a multidisciplinary approach using molecular modeling tools and surface plasmonic resonance to study the function of the ATP7B protein, which is impaired in the Wilson disease. Experimentally validated in silico models allow the elucidation in the Nucleotide binding domain (N-domain) of the Mg(2+)-ATP ...[more]