Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA
about
Antisense mediated splicing modulation for inherited metabolic diseases: challenges for deliveryStructure and function of biotin-dependent carboxylasesProgress toward therapy with antisense-mediated splicing modulationFunctional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liver.Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndromeGlobal identification of hnRNP A1 binding sites for SSO-based splicing modulation.In vivo correction of a Menkes disease model using antisense oligonucleotides.Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients.Targeting RNA splicing for disease therapy.Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing.Therapeutic potential of splice-switching oligonucleotides.Potential therapeutic applications of antisense morpholino oligonucleotides in modulation of splicing in primary immunodeficiency diseasesMaking sense of therapeutics using antisense technology.Role of pseudoexons and pseudointrons in human cancer.Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.Deep intronic mutations and human disease.Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.Benign hereditary chorea: dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutation.Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.Functional correction by antisense therapy of a splicing mutation in the GALT genePolypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1.A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
P2860
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P2860
Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA
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
Propionic and methylmalonic ac ...... errantly spliced messenger RNA
@ast
Propionic and methylmalonic ac ...... errantly spliced messenger RNA
@en
type
label
Propionic and methylmalonic ac ...... errantly spliced messenger RNA
@ast
Propionic and methylmalonic ac ...... errantly spliced messenger RNA
@en
prefLabel
Propionic and methylmalonic ac ...... errantly spliced messenger RNA
@ast
Propionic and methylmalonic ac ...... errantly spliced messenger RNA
@en
P2093
P2860
P356
P1476
Propionic and methylmalonic ac ...... errantly spliced messenger RNA
@en
P2093
P2860
P304
P356
10.1086/522376
P407
P577
2007-12-01T00:00:00Z