Article
A model for Batten disease protein CLN3: functional implications from homology and mutations.
FEBS letters - 9 Dec 1996
Janes R W, Munroe P B, Mitchison H M, Gardiner R M, Mole S E, Wallace B A
Abstract excerpt
In an attempt to understand the molecular nature of Batten disease, we have examined the amino acid sequence of the affected CLN3 gene product (The International Batten Disease Consortium (1995) Cell 82, 949-957) and the site-specific mutations which give rise to the biological defect. Homology searches and molecular modeling have led to the development of a model for the folding and disposition of the protein,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.