Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides.
about
New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicalsSMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic modelsProgress toward therapy with antisense-mediated splicing modulationFunctional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.A novel mouse model for ataxia-telangiectasia with a N-terminal mutation displays a behavioral defect and a low incidence of lymphoma but no increased oxidative burden.Optimal antisense target reducing INS intron 1 retention is adjacent to a parallel G quadruplex.Splice-correcting oligonucleotides restore BTK function in X-linked agammaglobulinemia modelRapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes.Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicitySMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs.A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.Arginine-rich cell-penetrating peptide dramatically enhances AMO-mediated ATM aberrant splicing correction and enables delivery to brain and cerebellum.Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.Exon-centric regulation of ATM expression is population-dependent and amenable to antisense modification by pseudoexon targetingIn vivo correction of a Menkes disease model using antisense oligonucleotides.Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNAImmunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene.Therapeutic potential of splice-switching oligonucleotides.A gain of function mutation causing skeletal overgrowth in the rapunzel mutant.Nonaminoglycoside compounds induce readthrough of nonsense mutations.New insights in gene-derived therapy: the example of Duchenne muscular dystrophy.Potential therapeutic applications of antisense morpholino oligonucleotides in modulation of splicing in primary immunodeficiency diseasesUpon the tightrope in prostate cancer: two acrobats on the same tightrope to cross the finishline.Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency.Ataxia-telangiectasia: recommendations for multidisciplinary treatment.Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.A proposed bailout for A-T patients?Update on the management of the immunodeficiency in ataxia-telangiectasia.Making sense of antisense oligonucleotides: A narrative review.Bone marrow transplantation improves the outcome of Atm-deficient mice through the migration of ATM-competent cells.In vitro correction of a novel splicing alteration in the BTK gene by using antisense morpholino oligonucleotides.Alternative Splicing as a Target for Cancer Treatment.
P2860
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P2860
Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Correction of prototypic ATM s ...... e morpholino oligonucleotides.
@ast
Correction of prototypic ATM s ...... e morpholino oligonucleotides.
@en
type
label
Correction of prototypic ATM s ...... e morpholino oligonucleotides.
@ast
Correction of prototypic ATM s ...... e morpholino oligonucleotides.
@en
prefLabel
Correction of prototypic ATM s ...... e morpholino oligonucleotides.
@ast
Correction of prototypic ATM s ...... e morpholino oligonucleotides.
@en
P2093
P2860
P356
P1476
Correction of prototypic ATM s ...... e morpholino oligonucleotides.
@en
P2093
Julianne M Pollard
Richard A Gatti
P2860
P304
P356
10.1073/PNAS.0608616104
P407
P577
2007-03-26T00:00:00Z