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Citation
Sen, A., Dimlich, D.N., Guruharsha, K.G., Kankel, M.W., Hori, K., Yokokura, T., Brachat, S., Richardson, D., Loureiro, J., Sivasankaran, R., Curtis, D., Davidow, L.S., Rubin, L.L., Hart, A.C., Van Vactor, D., Artavanis-Tsakonas, S. (2013). Genetic circuitry of Survival motor neuron, the gene underlying spinal muscular atrophy.  Proc. Natl. Acad. Sci. U.S.A. 110(26): E2371--E2380.
FlyBase ID
FBrf0222027
Publication Type
Research paper
Abstract

The clinical severity of the neurodegenerative disorder spinal muscular atrophy (SMA) is dependent on the levels of functional Survival Motor Neuron (SMN) protein. Consequently, current strategies for developing treatments for SMA generally focus on augmenting SMN levels. To identify additional potential therapeutic avenues and achieve a greater understanding of SMN, we applied in vivo, in vitro, and in silico approaches to identify genetic and biochemical interactors of the Drosophila SMN homolog. We identified more than 300 candidate genes that alter an Smn-dependent phenotype in vivo. Integrating the results from our genetic screens, large-scale protein interaction studies, and bioinformatic analysis, we define a unique interactome for SMN that provides a knowledge base for a better understanding of SMA.

PubMed ID
PubMed Central ID
PMC3696827 (PMC) (EuropePMC)
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Secondary IDs
    Language of Publication
    English
    Additional Languages of Abstract
    Parent Publication
    Publication Type
    Journal
    Abbreviation
    Proc. Natl. Acad. Sci. U.S.A.
    Title
    Proceedings of the National Academy of Sciences of the United States of America
    Publication Year
    1915-
    ISBN/ISSN
    0027-8424
    Data From Reference
    Alleles (12)
    Genes (43)
    Human Disease Models (1)
    Cell Lines (1)
    Natural transposons (1)
    Insertions (8)
    Experimental Tools (2)
    Transgenic Constructs (3)