(Q39629139)

13 September 2017

title

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

publication date

5 November 2010

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Molecular Genetics and Metabolism

13 September 2017

published in

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13 September 2017

volume

102

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13 September 2017

issue

2

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13 September 2017

page(s)

134-138

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The spliceosome: a novel multi-faceted target for therapy

13 September 2017

cites work

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Novel roles of U1 snRNP in alternative splicing regulation

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

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

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

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

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

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

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

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

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

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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7 January 2021

Identifiers

DOI

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13 September 2017

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