(Q46849509)

25 December 2017

title

Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency (English)

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25 December 2017

author name string

Sandra Brasil

1

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25 December 2017

Hiu Man Viecelli

2

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25 December 2017

David Meili

3

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25 December 2017

Anahita Rassi

4

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25 December 2017

Lourdes R Desviat

5

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25 December 2017

Belen Pérez

6

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25 December 2017

Magdalena Ugarte

7

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25 December 2017

Beat Thöny

8

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25 December 2017

publication date

4 August 2011

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25 December 2017

published in

Human Mutation

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25 December 2017

volume

32

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25 December 2017

issue

9

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25 December 2017

page(s)

1019-1027

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25 December 2017

Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21529

Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology

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Orally delivered siRNA targeting macrophage Map4k4 suppresses systemic inflammation

21 January 2018

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Developing drugs that can cross the blood-brain barrier: applications to Alzheimer's disease

21 January 2018

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Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies.

21 January 2018

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Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides

21 January 2018

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Improved cell-penetrating peptide-PNA conjugates for splicing redirection in HeLa cells and exon skipping in mdx mouse muscle.

21 January 2018

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Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21529

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21529

Transvascular delivery of small interfering RNA to the central nervous system.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21529

Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21529

Design and synthesis of dendritic molecular transporter that achieves efficient in vivo delivery of morpholino antisense oligo

21 January 2018

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Disorders of biopterin metabolism

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21529

In vivo correction of a Menkes disease model using antisense oligonucleotides

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21529

Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.

21 January 2018

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Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene

21 January 2018

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Preparation of Trojan horse liposomes (THLs) for gene transfer across the blood-brain barrier

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21529

Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria).

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21529

Present and future of antisense therapy for splicing modulation in inherited metabolic disease

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21529

Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells.

21 January 2018

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Determinants of the inherent strength of human 5' splice sites

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21529

Disorders of tetrahydrobiopterin metabolism and their treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21529

Repair of a splicing defect in erythroid cells from patients with beta-thalassemia/HbE disorder

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21529

Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21529

Tetrahydrobiopterin: biochemistry and pathophysiology

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21529

High-performance liquid chromatographic methods for the quantification of tetrahydrobiopterin biosynthetic enzymes

21 January 2018

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Modulating the expression of disease genes with RNA-based therapy.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21529

RNA-targeted splice-correction therapy for neuromuscular disease

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21529

Nuclear localization of tetrahydrobiopterin biosynthetic enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21529

7 January 2021

A common mutation A1298C in human methylenetetrahydrofolate reductase gene: association with plasma total homocysteine and folate concentrations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21529

7 January 2021

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21529

7 January 2021

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21529

7 January 2021

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21529

7 January 2021

Transposable elements in disease-associated cryptic exons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21529

7 January 2021

Identifiers

DOI

10.1002/HUMU.21529

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25 December 2017

PubMed ID

21542064

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25 December 2017