Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease
Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease
About this item
Full title
Author / Creator
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
Subjects
More information
Scope and Contents
Contents
NHLRC2 (NHL repeat-containing protein 2) is an essential protein. Mutations of NHLRC2, including Asp148Tyr, have been recently associated with a novel FINCA disease (fibrosis, neurodegeneration, cerebral angiomatosis), which is fatal in early childhood. To gain insight into the mechanisms of action of this essential protein, we determined the cryst...
Alternative Titles
Full title
Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_a78080ecba3243e28e4aa71b036ebb11
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a78080ecba3243e28e4aa71b036ebb11
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0202391
