ArticleRare diseases (Austin, Tex.)2014
A Drosophila screen identifies neurofibromatosis-1 genetic modifiers involved in systemic and synaptic growth.
Article in Rare diseases (Austin, Tex.), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 14 citations in OpenAlex.
- Modeling neurodegenerative and neurodevelopmental disorders in theLearning & memory (Cold Spring Harbor, N.Y.) · 2024Review
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- A Targeted, Low-Throughput Compound Screen in aeNeuro · 2023Article
- Synaptic dysfunction connects autism spectrum disorder and sleep disturbances: A perspective from studies in model organisms.Sleep medicine reviews · 2022Review
- Article
- Review
- Developmental loss of neurofibromin across distributed neuronal circuits drives excessive grooming in Drosophila.PLoS genetics · 2020Article
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Authors and funding
2 authors at 2 institutions in 1 country.
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Abstract
Neurofibromatosis type 1 (NF1) is caused by loss of a negative regulator of Ras oncoproteins. Unknown genetic modifiers have been implicated in NF1's characteristic variability. Drosophila melanogaster dNf1 phenotypes include cognitive deficits and reduced growth, both of which resemble human symptoms. We recently reported results of a screen for dominant modifiers of dNf1 growth. Suppressors include the dAlk tyrosine kinase and its activating ligand, two other genes involved in Ras/ERK signal transduction, the synaptic scaffold Dap160 and the CCKLR-17D1 drosulfakinin receptor. Additional modifiers include several genes involved in cAMP/PKA signaling. Providing mechanistic insights, dAlk, jeb, and CCKLR-17D1 also suppress a dNf1 synaptic overgrowth defect, and increasing cAMP/PKA signaling in the neuroendocrine ring gland rescued the dNf1 growth deficiency. Finally, among the several suppressors identified in our screen, we specifically implicate ALK as a potential therapeutic target by showing that NF1-regulated ALK/RAS/ERK signaling is conserved in human cells.
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