(Q42612955)

English

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

scientific article published on May 2009

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 November 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

3 November 2017

congenital disorder

0 references

congenital disorder of glycosylation type Ia

0 references

1 reference

based on heuristic

inferred from title

congenital disorder

1 reference

based on heuristic

inferred from title

author name string

Ana I Vega

1

1 reference

Europe PubMed Central

PubMed publication ID

3 November 2017

Celia Pérez-Cerdá

2

1 reference

Europe PubMed Central

PubMed publication ID

3 November 2017

Lourdes R Desviat

3

1 reference

Europe PubMed Central

PubMed publication ID

3 November 2017

Gert Matthijs

4

1 reference

Europe PubMed Central

PubMed publication ID

3 November 2017

Magdalena Ugarte

5

1 reference

Europe PubMed Central

PubMed publication ID

3 November 2017

Belén Pérez

6

1 reference

Europe PubMed Central

PubMed publication ID

3 November 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 May 2009

1 reference

Europe PubMed Central

PubMed publication ID

3 November 2017

1 reference

Europe PubMed Central

PubMed publication ID

3 November 2017

30

1 reference

Europe PubMed Central

PubMed publication ID

3 November 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

3 November 2017

795-803

1 reference

Europe PubMed Central

PubMed publication ID

3 November 2017

Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Predictive identification of exonic splicing enhancers in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

A rapid procedure for extracting genomic DNA from leukocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Nonsense-mediated mRNA decay in mammals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Achieving targeted and quantifiable alteration of mRNA splicing with Morpholino oligos

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Splicing regulation as a potential genetic modifier

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Genomic variants in exons and introns: identifying the splicing spoilers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

The spliceosome: a novel multi-faceted target for therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

PMM2 intronic branch-site mutations in CDG-Ia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Antisense oligonucleotide-induced exon skipping across the human dystrophin gene transcript.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Computational definition of sequence motifs governing constitutive exon splicing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

21 January 2018

Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

7 January 2021

based on heuristic

inferred from DOI database lookup

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

7 January 2021

based on heuristic

inferred from DOI database lookup

Mono, di and tri-mannopyranosyl phosphates as mannose-1-phosphate prodrugs for potential CDG-Ia therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

7 January 2021

based on heuristic

inferred from DOI database lookup

A new insight into PMM2 mutations in the French population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

7 January 2021

based on heuristic

inferred from DOI database lookup

Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

7 January 2021

based on heuristic

inferred from DOI database lookup

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

7 January 2021

based on heuristic

inferred from DOI database lookup

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20960

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20960

1 reference

Europe PubMed Central

PubMed publication ID

3 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 November 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q42612955&oldid=2148257502"