Transcriptomics,Multiomics

Dataset Information

161

Transcription profiling by array of mice spinal muscular atrophy type I fibroblasts


ABSTRACT: Characterization of the selectivity of SMN splicing modifiers in SMA type I fibroblasts by RNASeq In total 12 samples were analyzed, divided into four distinct groups (treated with SMN-C3 @ 500 nM; controls for SMN-C3; treated with SMN-C1 @ 100 nM; controls for SMN-C1) containing 3 replicates each.

REANALYSIS of: E-GEOD-62540

ORGANISM(S): Homo sapiens  

PROVIDER: E-GEOD-62540 | ExpressionAtlas | 2016-04-07

REPOSITORIES: ExpressionAtlas

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Publications

Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.

Naryshkin Nikolai A NA   Weetall Marla M   Dakka Amal A   Narasimhan Jana J   Zhao Xin X   Feng Zhihua Z   Ling Karen K Y KK   Karp Gary M GM   Qi Hongyan H   Woll Matthew G MG   Chen Guangming G   Zhang Nanjing N   Gabbeta Vijayalakshmi V   Vazirani Priya P   Bhattacharyya Anuradha A   Furia Bansri B   Risher Nicole N   Sheedy Josephine J   Kong Ronald R   Ma Jiyuan J   Turpoff Anthony A   Lee Chang-Sun CS   Zhang Xiaoyan X   Moon Young-Choon YC   Trifillis Panayiota P   Welch Ellen M EM   Colacino Joseph M JM   Babiak John J   Almstead Neil G NG   Peltz Stuart W SW   Eng Loren A LA   Chen Karen S KS   Mull Jesse L JL   Lynes Maureen S MS   Rubin Lee L LL   Fontoura Paulo P   Santarelli Luca L   Haehnke Daniel D   McCarthy Kathleen D KD   Schmucki Roland R   Ebeling Martin M   Sivaramakrishnan Manaswini M   Ko Chien-Ping CP   Paushkin Sergey V SV   Ratni Hasane H   Gerlach Irene I   Ghosh Anirvan A   Metzger Friedrich F  

Science (New York, N.Y.) 20140801 6197


Spinal muscular atrophy (SMA) is a genetic disease caused by mutation or deletion of the survival of motor neuron 1 (SMN1) gene. A paralogous gene in humans, SMN2, produces low, insufficient levels of functional SMN protein due to alternative splicing that truncates the transcript. The decreased levels of SMN protein lead to progressive neuromuscular degeneration and high rates of mortality. Through chemical screening and optimization, we identified orally available small molecules that shift th  ...[more]

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