Cognitive dysfunction in NF1 knock-out mice may result from altered vesicular trafficking of APP/DRD3 complex.

ABSTRACT:

Background

It has been estimated that more than 50% of patients with Neurofibromatosis type 1 (NF1) have neurobehavioral impairments which include attention deficit/hyperactivity disorder, visual/spatial learning disabilities, and a myriad of other cognitive developmental problems. The biological mechanisms by which NF1 gene mutations lead to such cognitive deficits are not well understood, although excessive Ras signaling and increased GABA mediated inhibition have been implicated. It is proposed that the cognitive deficits in NF1 are the result of dysfunctional cellular trafficking and localization of molecules downstream of the primary gene defect.

Results

To elucidate genes involved in the pathogenic process, gene expression analysis was performed comparing the expressio

SUBMITTER: Donarum EA 

PROVIDER: S-EPMC1434756 | biostudies-literature | 2006 Mar

REPOSITORIES: biostudies-literature