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A Y374X TDP43 truncation leads to an altered fibroblast metabolic profile in amyotrophic lateral sclerosis driven by pyruvate and TCA cycle intermediate alterations

ABSTRACT: Microarray and metabolomic analysis has been applied to the study of ALS in order to investigate how a Y374X TDP43 truncation mutation leads to an altered metabolic profile in fibroblasts driven by pyruvate and TCA cycle intermediate alterations The aim of the present study is to combine transcriptomics, metabolic flux analysis and protein expression analysis in fibroblasts in order to investigate how the Y34X truncation mutation in the TDP43 gene causes metabolic dysfunction

ORGANISM(S): Homo sapiens

PROVIDER: GSE224138 | GEO | 2023/02/05

REPOSITORIES: GEO

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An intramolecular salt bridge linking TDP43’s RNA recognition motifs dictates RNA binding, protein stability and TDP43-dependent neurodegeneration

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Project description:Individual-nucleotide resolution UV-crosslinking and immunoprecipitation (iCLIP) combined with high-throughput sequencing was used to generate a transcriptome-wide binding map of TDP43, FOX2 and hnRNP M in WT and P-KO H9 cells.

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