Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia (Q39629139)

13 September 2017

Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia (English)

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13 September 2017

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Rocío Sánchez-Alcudia

1

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13 September 2017

Belén Pérez

2

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13 September 2017

Celia Pérez-Cerdá

3

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13 September 2017

M Ugarte

4

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13 September 2017

Lourdes R Desviat

5

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13 September 2017

5 November 2010

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Molecular Genetics and Metabolism

13 September 2017

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13 September 2017

102

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13 September 2017

2

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13 September 2017

134-138

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The spliceosome: a novel multi-faceted target for therapy

13 September 2017

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Can donor splice site recognition occur without the involvement of U1 snRNP?

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Novel roles of U1 snRNP in alternative splicing regulation

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Recognition of atypical 5' splice sites by shifted base-pairing to U1 snRNA.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Comparative analysis detects dependencies among the 5' splice-site positions

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Short-term rescue of neonatal lethality in a mouse model of propionic acidemia by gene therapy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Propionic acidemia: mutation update and functional and structural effects of the variant alleles

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

A compensatory base change in U1 snRNA suppresses a 5' splice site mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Rescue of coagulation factor VII function by the U1+5A snRNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

U1 snRNA mis-binding: a new cause of CMT1B.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Pyruvate dehydrogenase complex deficiency: biochemical and immunoblot analysis of cultured skin fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

New splicing mutations in propionic acidemia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Low U1 snRNP dependence at the NF1 exon 29 donor splice site.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Determinants of the inherent strength of human 5' splice sites

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

U1 snRNP inhibits pre-mRNA polyadenylation through a direct interaction between U1 70K and poly(A) polymerase.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

Defining a 5' splice site by functional selection in the presence and absence of U1 snRNA 5' end.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.013

10.1016/J.YMGME.2010.10.013

7 January 2021

Identifiers

DOI

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13 September 2017

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