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Genetic circuitry of Survival motor neuron, the gene underlying spinal muscular atrophy.

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.

journal_name

Proc Natl Acad Sci U S A

journal_title

Proceedings of the National Academy of Sciences of the United States of America

authors

Sen A,Dimlich DN,Guruharsha KG,Kankel MW,Hori K,Yokokura T,Brachat S,Richardson D,Loureiro J,Sivasankaran R,Curtis D,Davidow LS,Rubin LL,Hart AC,Van Vactor D,Artavanis-Tsakonas S

doi

10.1073/pnas.1301738110

subject

Has Abstract

pub_date

2013-06-25 00:00:00

pages

E2371-80

issue

26

eissn

0027-8424

issn

1091-6490

pii

1301738110

journal_volume

110

pub_type

杂志文章

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