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nuclear speckle integrity

Candidate: concept label1 source documents4 linked claims
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Evidence Snippets

Disruption of nuclear speckle integrity dysregulates RNA splicing in C9ORF72-FTD/ALS.
Evidence 1Source 1DOIPubMedprovenance

Supporting Sources

Linked Claims

Claim 1causal effectsupports2024Source 1DOIPubMed

Impaired nuclear speckle integrity causes neuronal toxicity.

Quoted textsource-backed
Impaired nuclear speckle integrity induces global exon skipping and intron retention in human iPSC-derived neurons and causes neuronal toxicity
Claim 2causal effectsupports2024Source 1DOIPubMed

Impaired nuclear speckle integrity induces global exon skipping and intron retention in human iPSC-derived neurons.

Quoted textsource-backed
Impaired nuclear speckle integrity induces global exon skipping and intron retention in human iPSC-derived neurons
Claim 3mechanistic associationsupports2024Source 1DOIPubMed

(GGGGCC)n repeat RNA co-localizes with nuclear speckles and alters their phase separation properties and granule dynamics in C9ORF72-FTD/ALS.

Quoted textsource-backed
the (GGGGCC)n repeat RNA co-localizes with nuclear speckles and alters their phase separation properties and granule dynamics
Claim 4mechanistic associationsupports2024Source 1DOIPubMed

SRRM2 is sequestered into poly-GR cytoplasmic inclusions in the C9-FTD/ALS mouse model and patient postmortem tissues, exacerbating nuclear speckle dysfunction.

Quoted textsource-backed
the essential nuclear speckle scaffold protein SRRM2 is sequestered into the poly-GR cytoplasmic inclusions in the C9-FTD/ALS mouse model and patient postmortem tissues, exacerbating the nuclear speckle dysfunction