Article

Huntington’s disease-specific mis-splicing captured by human-mouse intersect-RNA-seq unveils pathogenic effectors and reduced splicing factors

2020-05-12

Abstract excerpt

Deregulated alternative splicing has been implicated in a wide range of pathologies. Deep RNA-sequencing has revealed global mis-splicing signatures in multiple human diseases; however, for neurodegenerative diseases, these analyses are intrinsically hampered by neuronal loss and neuroinflammation in post-mortem brains. To infer splicing alterations relevant to Huntington’s disease (HD) pathogenesis, here we perfo...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 972b38be-462b-5f74-a586-7d0806a75351
DOI: 10.1101/2020.05.11.086017

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Huntington’s disease-specific mis-splicing captured by human-mouse intersect-RNA-seq unveils pathogenic effectors and reduced splicing factorsDOI 10.1101/2020.05.11.086017Read

Huntington’s disease-specific mis-splicing unveils key effector genes and altered splicing factorsSemantic proximity Read

Correction of RBFOX1 deficit rescues Huntington’s disease mis-splicing and pathologySemantic proximity Read

Defective linear and circular RNAs biogenesis in Huntington’s disease: CAG repeat expansion hijacks neuronal splicingSemantic proximity Read

Widespread dysregulation of mRNA splicing implicates RNA processing in the development and progression of Huntington's disease.Semantic proximity Read

Transcriptome sequencing reveals aberrant alternative splicing in Huntington's disease.Semantic proximity Read

HTT loss-of-function contributes to RNA deregulation in developing Huntington’s disease neuronsSemantic proximity Read

Widespread dysregulation of mRNA splicing implicates RNA processing in the development and progression of Huntington’s diseaseSemantic proximity Read

Integrated detection and quantification of aberrant transcripts with novel splicing eventsSemantic proximity Read

Aberrant splicing in Huntington’s disease via disrupted TDP-43 activity accompanied by altered m6A RNA modificationSemantic proximity Read

Single-Nucleus RNA-Seq Reveals Dysregulation of Striatal Cell Identity Due to Huntington's Disease Mutations.Semantic proximity Read

Targeted 3’-end RNA sequencing uncovers cryptic polyadenylation in Huntington’s disease linked to somatic instability and CAG repeat puritySemantic proximity Read

Single-nucleus RNA-seq reveals dysregulation of striatal cell identity due to Huntington’s disease mutationsSemantic proximity Read