(Q46119282)

19 December 2017

title

Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain (English)

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19 December 2017

author name string

Judit Macías-Vidal

1

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19 December 2017

Laura Gort

2

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19 December 2017

Montse Lluch

3

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19 December 2017

Mercè Pineda

4

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19 December 2017

Maria Josep Coll

5

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19 December 2017

publication date

14 February 2009

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19 December 2017

Molecular Genetics and Metabolism

published in

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19 December 2017

volume

97

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19 December 2017

page(s)

60-64

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19 December 2017

issue

1

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19 December 2017

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.007

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

7 January 2021

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A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.007

Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.007

Molecular analysis in two beta-mannosidosis patients: description of a new adult case

7 January 2021

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Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.007

Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.007

Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.007

Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.007

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.007

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.007

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.007

Nonsense-mediated mRNA decay

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.007

Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.007

Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.007

The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.007

The multiple lives of NMD factors: balancing roles in gene and genome regulation

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.007

From birth to death: the complex lives of eukaryotic mRNAs

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.007

10.1016/J.YMGME.2009.01.007

7 January 2021

Identifiers

DOI

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19 December 2017

PubMed ID

19223215

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19 December 2017