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. 2023 Oct 20;11:168. doi: 10.1186/s40478-023-01656-0

Table 2.

Candidate mRNA targets of TDP-43 in mushroom body neurons, identified in Drosophila and found to be transcriptionally altered in single neuronal nuclei from FTD patient brains

Human gene Fly gene HGNC ID DIOPT score Log2FC FDR Gene function Association with neurodegenerative disease
NFIB NfI HGNC:7785 11 0.374332 0.005697 DNA-binding transcription factor activity Altered expression in AD [127]
PLPPR4 wun HGNC:23496 3 0.370091 0.000000 Lipid phosphate phosphatase Altered expression in AD patient cortices [128]
ENC1 dbo HGNC:3345 4 0.354832 0.000447 Substrate-specific adapter of an E3 ubiquitin-protein ligase complex Altered expression in AD [108]
TMTC1 Tmtc4 HGNC:24099 3 0.338313 0.006021 Transmembrane O-mannosyltransferase targeting cadherins 4 Altered expression in mouse models of AD [129]
GRIA4 GluRIIE HGNC:4574 7 0.319357 0.008298 Glutamate receptor Protein levels reduced across different dementias [130]; altered expression in AD [127]
NCALD CG5890 HGNC:7655 3  − 0.421750 0.000044 Neuronal calcium sensor Decreased in AD [131]
FOXP2 FoxP HGNC:13875 8  − 0.434982 0.002966 Forkhead box transcription factor Linked to speech and language disorders; downstream targets include motor proteins [132]

DIOPT score—ortholog identifier tool [95]. Log2FC and FDR—differential expression data for human orthologs, identified in neuronal nuclei from FTD patient brains exhibiting the molecular signature of TDP-43 pathology [see Materials and Methods, and 56]. Gene function and association with neurodegenerative disease, as shown. Note: ENC1 and GRIA4 are present on both MB-MN shared and MB unique lists due to homology to distinct genes identified in Drosophila