Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency (Q45746140)

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scientific article published on 4 February 2013

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English	Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency	scientific article published on 4 February 2013

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scholarly article

1 reference

Europe PubMed Central

15 December 2017

http://europepmc.org/abstract/MED/23465862

Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency (English)

1 reference

Europe PubMed Central

15 December 2017

http://europepmc.org/abstract/MED/23465862

Paulino Gómez-Puertas

9

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Europe PubMed Central

15 December 2017

http://europepmc.org/abstract/MED/23465862

author name string

Beatriz Puisac

1

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15 December 2017

http://europepmc.org/abstract/MED/23465862

María Esperanza Teresa-Rodrigo

2

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Europe PubMed Central

15 December 2017

http://europepmc.org/abstract/MED/23465862

María Arnedo

3

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Europe PubMed Central

15 December 2017

http://europepmc.org/abstract/MED/23465862

María Concepción Gil-Rodríguez

4

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Europe PubMed Central

15 December 2017

http://europepmc.org/abstract/MED/23465862

Celia Pérez-Cerdá

5

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Europe PubMed Central

15 December 2017

http://europepmc.org/abstract/MED/23465862

Antonia Ribes

6

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Europe PubMed Central

15 December 2017

http://europepmc.org/abstract/MED/23465862

Angeles Pié

7

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Europe PubMed Central

15 December 2017

http://europepmc.org/abstract/MED/23465862

Gloria Bueno

8

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Europe PubMed Central

15 December 2017

http://europepmc.org/abstract/MED/23465862

Juan Pié

10

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15 December 2017

http://europepmc.org/abstract/MED/23465862

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4 February 2013

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http://europepmc.org/abstract/MED/23465862

Molecular Genetics and Metabolism

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http://europepmc.org/abstract/MED/23465862

108

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http://europepmc.org/abstract/MED/23465862

4

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http://europepmc.org/abstract/MED/23465862

232-240

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15 December 2017

http://europepmc.org/abstract/MED/23465862

Lethal hypoglycemia in a child with a deficiency of 3-hydroxy-3-methylglutarylcoenzyme A lyase

1 reference

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3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review

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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients

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Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol

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Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase

1 reference

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7 January 2021

Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria

1 reference

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7 January 2021

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes

1 reference

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7 January 2021

Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway

1 reference

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7 January 2021

Molecular genetics of HMG-CoA lyase deficiency

1 reference

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7 January 2021

Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria

1 reference

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7 January 2021

A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

1 reference

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7 January 2021

A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.019

7 January 2021

Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts

1 reference

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7 January 2021

Alternatively spliced TCR mRNA induced by disruption of reading frame.

1 reference

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7 January 2021

Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy

1 reference

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7 January 2021

Alternative splicing induced by nonsense mutations in the immunoglobulin mu VDJ exon is independent of truncation of the open reading frame

1 reference

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7 January 2021

Quantification of splice variants using real-time PCR

1 reference

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7 January 2021

The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.

1 reference

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7 January 2021

Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL.

1 reference

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7 January 2021

Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America.

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7 January 2021

Alternatively spliced T-cell receptor transcripts are up-regulated in response to disruption of either splicing elements or reading frame.

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7 January 2021

Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene

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7 January 2021

Pre-mRNA splicing and human disease

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7 January 2021

Maintenance of an open reading frame as an additional level of scrutiny during splice site selection

1 reference

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7 January 2021

Identification of a new class of exonic splicing enhancers by in vivo selection

1 reference

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General and specific functions of exonic splicing silencers in splicing control

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Systematic identification and analysis of exonic splicing silencers.

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Splicing in action: assessing disease causing sequence changes

1 reference

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7 January 2021

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

1 reference

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7 January 2021

Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans

1 reference

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7 January 2021

The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! Which players make the decision?

1 reference

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Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion

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The splicing machinery is a genetic modifier of disease severity

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7 January 2021

Identifiers

10.1016/J.YMGME.2013.01.019

1 reference

Europe PubMed Central

15 December 2017

http://europepmc.org/abstract/MED/23465862

1 reference

Europe PubMed Central

15 December 2017

http://europepmc.org/abstract/MED/23465862

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