Article
Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 17 Dec 2008
Zhao Jiali, Matthies Dawn S, Botzolakis Emmanuel J, Macdonald Robert L, Blakely Randy D, Hedera Peter
Abstract excerpt
We studied the consequences of expression of wild-type (WT) human NIPA1 and two mutant forms of NIPA1 with known HSP-associated mutations (T45R and G106R) on cultured rat cortical neurons and using equivalent substitutions in the Caenorhabditis elegans NIPA1 homolog CeNIPA. WT NIPA1 localized in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.