{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Awai A"],"funding":["NIH G-RISE","NIGMS NIH HHS"],"pagination":["9234"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12470382"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["26(18)"],"pubmed_abstract":["Amyotrophic lateral sclerosis (ALS) is a terminal neurodegenerative disease, marked by considerable clinical and molecular heterogeneity. While several genetic drivers have been linked to familial ALS (fALS), the biology of sporadic ALS (sALS)-which accounts for the majority of ALS cases-remains poorly defined. To address this gap, we analyzed 247 bulk mRNA-sequenced post-mortem tissue samples from the lumbar spinal cord and motor cortex and compared expression profiles between fALS, sALS, and controls. Variance-stabilized DEGs from DESeq2 analysis were used as inputs for weighted gene co-expression network analysis (WGCNA). Finally, gene ontology was used to identify transcriptomic signatures and biological pathways unique to sALS and fALS. In the spinal cord, sALS samples exhibited speci"],"journal":["International journal of molecular sciences"],"pubmed_title":["Stratifying ALS Patients by Mode of Inheritance Reveals Transcriptomic Signatures Specific to sALS and fALS."],"pmcid":["PMC12470382"],"funding_grant_id":["R25GM058268.","R25 GM058268"],"pubmed_authors":["On Behalf Of The Nygc Als Consortium","Leng T","Patrickson J","Awai A","Johnson EL","Lillard JW","Zody MC"],"additional_accession":[]},"is_claimable":false,"name":"Stratifying ALS Patients by Mode of Inheritance Reveals Transcriptomic Signatures Specific to sALS and fALS.","description":"Amyotrophic lateral sclerosis (ALS) is a terminal neurodegenerative disease, marked by considerable clinical and molecular heterogeneity. While several genetic drivers have been linked to familial ALS (fALS), the biology of sporadic ALS (sALS)-which accounts for the majority of ALS cases-remains poorly defined. To address this gap, we analyzed 247 bulk mRNA-sequenced post-mortem tissue samples from the lumbar spinal cord and motor cortex and compared expression profiles between fALS, sALS, and controls. Variance-stabilized DEGs from DESeq2 analysis were used as inputs for weighted gene co-expression network analysis (WGCNA). Finally, gene ontology was used to identify transcriptomic signatures and biological pathways unique to sALS and fALS. In the spinal cord, sALS samples exhibited speci","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-05-02T03:09:51.467Z","creation":"2026-05-02T03:07:38.205Z"},"accession":"S-EPMC12470382","cross_references":{"pubmed":["41009796"],"doi":["10.3390/ijms26189234"]}}