Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms
Susanna Lualdi,Maja Di Rocco,Fabio Corsolini,Marco Spada,Bruno Bembi,Giovanna Cotugno,Roberta Battini,Marina Stroppiano,Maria Gabriela Pittis,Mirella Filocamo +9 more
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TLDR
The results confirm the wide variability of the mRNA expression levels previously reported and represent a further exception to the rules governing susceptibility to nonsense-mediated decay.About:
This article is published in Biochimica et Biophysica Acta.The article was published on 2006-04-01 and is currently open access. It has received 32 citations till now. The article focuses on the topics: Nonsense-mediated decay & Nonsense mutation.read more
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Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?
Olga Anczuków,Mark D. Ware,Monique Buisson,Almoutassem B. Zetoune,Dominique Stoppa-Lyonnet,Olga M. Sinilnikova,Sylvie Mazoyer +6 more
TL;DR: This study investigated whether endogenous alleles of breast cancer predisposing genes carrying nonsense codons were able to produce detectable amounts of truncated proteins in lymphoblastoid cell lines, and found that BRCA1 and CHK2 truncation proteins could not be detected, even when NMD was inhibited.
Journal ArticleDOI
Mucopolysaccharidosis type II: an update on mutation spectrum.
TL;DR: Attempts have been made to establish genotype–phenotype correlations in order to provide an indication of the likely prognosis and a basis on which to evaluate treatment, and the extreme heterogeneity of IDS gene alterations confirms the high degree of clinical heterogeneity in MPS II.
Journal ArticleDOI
Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.
Gisela Nogales-Gadea,Juan C. Rubio,Israel Fernandez-Cadenas,Inés García-Consuegra,Alejandro Lucia,Ana Cabello,Elena García-Arumí,Joaquín Arenas,Antoni L. Andreu,Miguel A. Martín +9 more
TL;DR: Nearly 35% of all mutations identified in the muscle glycogen phosphorylase gene (PYGM) in patients with McArdle disease result in premature termination codons (PTCs), particularly the p.R50X mutation, which elicited decay in all the genotypes tested.
Journal ArticleDOI
Messenger RNA surveillance systems monitoring proper translation termination.
TL;DR: In this review, recent achievements in the investigation of mRNA surveillance pathways, including nonsense-mediated mRNA decay and nonstop- mediated mRNA surveillance pathway, will be discussed.
Journal ArticleDOI
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations
Marlies J. Valstar,Aida M. Bertoli-Avella,Marja W. Wessels,George J G Ruijter,Bianca M. de Graaf,Renske Olmer,Peter Elfferich,Sanne Neijs,Roxana Kariminejad,Fatih Süheyl Ezgü,Ayşegül Tokatlı,Barbara Czartoryska,Ad N. Bosschaart,Feikje van den Bos-Terpstra,Hugues Puissant,Friederike Bürger,Heymut Omran,D. Eckert,Mirella Filocamo,Emil Simeonov,Patrick J. Willems,Ron A. Wevers,Martinus F. Niermeijer,Dicky J. Halley,Ben J. H. M. Poorthuis,Otto P. van Diggelen,Otto P. van Diggelen +26 more
TL;DR: In this paper, the coding regions of the gene encoding GNS (GNS) resulted in the identification of 15 novel mutations: 3 missense mutations, 1 nonsense mutation, 4 splice site mutations, 4 frame shift mutations, 3 large deletions and 1 in-frame small deletion.
References
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TL;DR: Nonsense-mediated mRNA decay in mammalian cells generally degrades mRNAs that terminate translation more than 50-55 nucleotides upstream of a splicing-generated exon-exon junction.
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