Search Results - "Gomez, Nicolas B"
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Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats
Published in Nucleic acids research (27-02-2024)“…A GGGGCC (G4C2) hexanucleotide repeat expansion in C9ORF72 causes amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD), while a CGG…”
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TDP-43 stabilizes G3BP1 mRNA: relevance to amyotrophic lateral sclerosis/frontotemporal dementia
Published in Brain (London, England : 1878) (16-12-2021)“…TDP-43 nuclear depletion and concurrent cytoplasmic accumulation in vulnerable neurons is a hallmark feature of progressive neurodegenerative proteinopathies…”
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Shortened TDP43 isoforms upregulated by neuronal hyperactivity drive TDP43 pathology in ALS
Published in The Journal of clinical investigation (01-03-2020)“…Cortical hyperexcitability and mislocalization of the RNA-binding protein TDP43 are highly conserved features in amyotrophic lateral sclerosis (ALS)…”
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Journal Article