Article
Genetic and functional studies implicate synaptic overgrowth and ring gland cAMP/PKA signaling defects in the Drosophila melanogaster neurofibromatosis-1 growth deficiency.
PLoS genetics - 1 Nov 2013
Walker James A, Gouzi Jean Y, Long Jennifer B, Huang Sidong, Maher Robert C, Xia Hongjing, Khalil Kheyal, Ray Arjun, Van Vactor David, Bernards René, Bernards André
Abstract excerpt
Neurofibromatosis type 1 (NF1), a genetic disease that affects 1 in 3,000, is caused by loss of a large evolutionary conserved protein that serves as a GTPase Activating Protein (GAP) for Ras. Among Drosophila melanogaster Nf1 (dNf1) null mutant phenotypes, learning/memory deficits and reduced overall growth resemble human NF1 symptoms. These and other dNf1 defects are relatively insensitive to manipulations that...
Topics
- Anaplastic Lymphoma Kinase
- Animals
- Cyclic AMP
- Cyclic AMP-Dependent Protein Kinases
- Drosophila melanogaster
- Humans
- Memory Disorders
- Mutation
- Neurofibromatosis 1
- Neuromuscular Junction
- Receptor Protein-Tyrosine Kinases
- Signal Transduction