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- W4283746219 abstract "Pathology formed by the protein TDP-43 (TAR DNA binding protein 43) is the hallmark of several neurodegenerative diseases. Recent studies by Ma et al. and Brown et al. reveal that loss of TDP-43 function causes inclusion of cryptic exons in specific mRNAs, including the synaptic gene UNC13A, a known genetic risk factor for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). These findings suggest new disease mechanisms. Pathology formed by the protein TDP-43 (TAR DNA binding protein 43) is the hallmark of several neurodegenerative diseases. Recent studies by Ma et al. and Brown et al. reveal that loss of TDP-43 function causes inclusion of cryptic exons in specific mRNAs, including the synaptic gene UNC13A, a known genetic risk factor for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). These findings suggest new disease mechanisms." @default.
- W4283746219 created "2022-07-02" @default.
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- W4283746219 date "2022-09-01" @default.
- W4283746219 modified "2023-09-27" @default.
- W4283746219 title "Cryptic inclusions UNCover losses driving neurodegeneration" @default.
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- W4283746219 doi "https://doi.org/10.1016/j.tig.2022.06.004" @default.
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