{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Gao X"],"funding":["Ministry of Science and Technology of the People’s Republic of China","National Natural Science Foundation of China","NINDS NIH HHS","National Institutes of Health","Hartwell Foundation","NIH HHS"],"pagination":["410"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6509145"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["10"],"pubmed_abstract":["Spinal muscular atrophy (SMA) is a severe motor neuron degenerative disease caused by loss-of-function mutations in the survival motor neuron gene <i>SMN1</i>. It is widely posited that defective gene expression underlies SMA. However, the identities of these affected genes remain to be elucidated. By analyzing the transcriptome of a <i>Caenorhabditis elegans</i> SMA model at the pre-symptomatic stage, we found that the expression of numerous nuclear encoded mitochondrial genes and vacuolar H<sup>+</sup>-ATPase genes was significantly down-regulated, while that of histone genes was significantly up-regulated. We previously showed that the <i>uaf-1</i> gene, encoding key splicing factor U2AF large subunit, could affect the behavior and lifespan of <i>smn-1</i> mutants. Here, we found that <"],"journal":["Frontiers in genetics"],"pubmed_title":["Defective Expression of Mitochondrial, Vacuolar H<sup>+</sup>-ATPase and Histone Genes in a <i>C. elegans</i> Model of SMA."],"pmcid":["PMC6509145"],"funding_grant_id":["R01 NS094564","31371253","R01NS094564","R21NS106307","P40 OD010440","31571045","R21 NS106307"],"pubmed_authors":["Pan W","Xue D","Ma L","Zhou C","Gao X","Chen H","Xu J","Ma YC"],"additional_accession":[]},"is_claimable":false,"name":"Defective Expression of Mitochondrial, Vacuolar H<sup>+</sup>-ATPase and Histone Genes in a <i>C. elegans</i> Model of SMA.","description":"Spinal muscular atrophy (SMA) is a severe motor neuron degenerative disease caused by loss-of-function mutations in the survival motor neuron gene <i>SMN1</i>. It is widely posited that defective gene expression underlies SMA. However, the identities of these affected genes remain to be elucidated. By analyzing the transcriptome of a <i>Caenorhabditis elegans</i> SMA model at the pre-symptomatic stage, we found that the expression of numerous nuclear encoded mitochondrial genes and vacuolar H<sup>+</sup>-ATPase genes was significantly down-regulated, while that of histone genes was significantly up-regulated. We previously showed that the <i>uaf-1</i> gene, encoding key splicing factor U2AF large subunit, could affect the behavior and lifespan of <i>smn-1</i> mutants. Here, we found that <","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019","modification":"2025-04-04T21:39:55.334Z","creation":"2019-06-06T23:29:29Z"},"accession":"S-EPMC6509145","cross_references":{"pubmed":["31130987"],"doi":["10.3389/fgene.2019.00410"]}}