{"database":"ENA","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Fastqsanger.gz":["ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/060/SRR13775760/SRR13775760_2.fastq.gz","ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/062/SRR13775762/SRR13775762_2.fastq.gz","ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/056/SRR13775756/SRR13775756_2.fastq.gz","ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/059/SRR13775759/SRR13775759_1.fastq.gz","ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/061/SRR13775761/SRR13775761_1.fastq.gz","ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/062/SRR13775762/SRR13775762_1.fastq.gz","ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/058/SRR13775758/SRR13775758_1.fastq.gz","ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/059/SRR13775759/SRR13775759_2.fastq.gz","ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/063/SRR13775763/SRR13775763_2.fastq.gz","ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/064/SRR13775764/SRR13775764_1.fastq.gz","ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/057/SRR13775757/SRR13775757_2.fastq.gz","ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/056/SRR13775756/SRR13775756_1.fastq.gz","ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/057/SRR13775757/SRR13775757_1.fastq.gz","ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/058/SRR13775758/SRR13775758_2.fastq.gz","ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/063/SRR13775763/SRR13775763_1.fastq.gz","ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/064/SRR13775764/SRR13775764_2.fastq.gz","ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/061/SRR13775761/SRR13775761_2.fastq.gz","ftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR137/060/SRR13775760/SRR13775760_1.fastq.gz"]},"type":"primary"},"statusCodeValue":200,"statusCode":"OK"}],"scores":null,"additional":{"omics_type":["Genomics"],"center_name":["Department of Life Sciences, University of Trieste"],"full_dataset_link":["https://www.ebi.ac.uk/ena/browser/view/PRJNA704548"],"scientific_name":["Homo sapiens"],"tag":["xref:PubMed:35835219"],"long_description":["An emerging area of TDP-43 is represented by the study of post-translational modifications and the way they are connected to disease-associated mutations. Recently, we described a novel mutation in TDP-43 in an early-onset ALS case that was affecting a potential phosphorylation site in position 375 (S375G). A preliminary characterization showed that both the S375G variant and its phosphomimic mutant, S375E, displayed altered nuclear-cytoplasmic distribution and cellular toxicity. To better investigate these effects, we established cell lines expressing inducible TDP-43 WT, S375G, and S375E variants. No significant changes were reported in splicing of known regulated targets, TDP-43 autoregulation, or aggregation. However, cell-cycle analysis of the stable clones showed that the number of cells in the G2 phase decreased in the two phospho-mutants (S375G and S375E), as compared to WT. Furthermore, experiments showed that Apoptosis-inducing factor 1 (AIF1) appeared to be released from the mitochondria. The involvement of apoptosis and alterations in cell-cycle induced by these variants were further validated using RNAseq analysis. Taken together, these data strongly support the growing evidence that alterations of TDP-43 post-translational modifications can play a potentially important role in disease pathogenesis. Overall design: Generation of Tet-inducible Hek293 Flp-In T-REx monoclones expressing Wild-Type, S375G, and S375E variants of human TDP-43."],"repository":["ENA"],"additional_accession":[]},"is_claimable":false,"name":"Alterations in cell cycle progression caused by S375G and S375E phosphomutants of TDP-43","description":"Alterations in cell cycle progression caused by S375G and S375E phosphomutants of TDP-43","dates":{"last_updated":"2025-09-24","first_public":"2022-10-07"},"accession":"PRJNA704548","cross_references":{"GEO":["GSE167385"],"taxon":["9606"],"PubMed":["35835219"]}}