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Advances in Nucleotide Repeat Expansion Diseases: Transcription Gets in Phase.

Cells - 7 Mar 2023

Figueiredo Ana S, Loureiro Joana R, Macedo-Ribeiro Sandra, Silveira Isabel

Abstract excerpt

Unstable DNA repeat expansions and insertions have been found to cause more than 50 neurodevelopmental, neurodegenerative, and neuromuscular disorders. One of the main hallmarks of repeat expansion diseases is the formation of abnormal RNA or protein aggregates in the neuronal cells of affected individuals. Recent evidence indicates that alterations of the dynamic or material properties of biomolecular...

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PMID: 36980167
DOI: 10.3390/cells12060826
PMCID: PMC10047669

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