(Q88548193)

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Small nuclear RNA-mediated modulation of splicing reveals a therapeutic strategy for a TREM2 mutation and its post-transcriptional regulation

scientific article published on 02 May 2018

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25 March 2020

Small nuclear RNA-mediated modulation of splicing reveals a therapeutic strategy for a TREM2 mutation and its post-transcriptional regulation (English)

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25 March 2020

author name string

Motoaki Yanaizu

1

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25 March 2020

Kenji Sakai

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25 March 2020

Youhei Tosaki

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25 March 2020

Yoshihiro Kino

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25 March 2020

Jun-Ichi Satoh

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25 March 2020

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2 May 2018

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25 March 2020

Scientific Reports

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25 March 2020

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25 March 2020

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25 March 2020

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25 March 2020

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Creative Commons Attribution 4.0 International

2 May 2018

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April 2022 Public Data File from Crossref

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0 references

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.

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Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells

1 reference

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U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation

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A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs

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Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene

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Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence

1 reference

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7 January 2021

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Enhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: Promising tool for DMD therapy

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Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects

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Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.

1 reference

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Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype

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DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features

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Developmental regulation of TREM2 and DAP12 expression in the murine CNS: implications for Nasu-Hakola disease

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7 January 2021

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TREM2, Microglia, and Neurodegenerative Diseases.

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7 January 2021

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Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement

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Mutations in TREM2 lead to pure early-onset dementia without bone cysts.

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TREM2 Variants in Alzheimer's Disease

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7 January 2021

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Variant of TREM2 Associated with the Risk of Alzheimer's Disease

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7 January 2021

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TREM2 Binds to Apolipoproteins, Including APOE and CLU/APOJ, and Thereby Facilitates Uptake of Amyloid-Beta by Microglia.

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7 January 2021

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Apolipoprotein E Is a Ligand for Triggering Receptor Expressed on Myeloid Cells 2 (TREM2).

1 reference

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7 January 2021

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Nasu-Hakola disease with a splicing mutation of TREM2 in a Japanese family.

1 reference

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7 January 2021

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Stable alteration of pre-mRNA splicing patterns by modified U7 small nuclear RNAs

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-25204-2

7 January 2021

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The nonsense-mediated decay RNA surveillance pathway

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7 January 2021

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Unproductive splicing of SR genes associated with highly conserved and ultraconserved DNA elements

1 reference

https://api.crossref.org/works/10.1038%2FS41598-018-25204-2

7 January 2021

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An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

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Selective gene expression in brain microglia mediated via adeno-associated virus type 2 and type 5 vectors

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Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA.

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Therapeutic activity of modified U1 core spliceosomal particles

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Activation of a cryptic 5' splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene

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Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron

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Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon

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Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

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SMN2 splice modulators enhance U1-pre-mRNA association and rescue SMA mice

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Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

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Genomic sequence, splicing, and gene annotation

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Expression and processing analyses of wild type and p.R47H TREM2 variant in Alzheimer's disease brains

1 reference

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1 reference

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Identifiers

10.1038/S41598-018-25204-2

1 reference

Europe PubMed Central

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25 March 2020

1 reference

Europe PubMed Central

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25 March 2020

1 reference

Europe PubMed Central

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25 March 2020

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