Results 11 to 20 of about 2,316,916 (188)

Nonsense mRNA suppression via nonstop decay [PDF]

eLife, 2018
Nonsense-mediated mRNA decay is the process by which mRNAs bearing premature stop codons are recognized and cleared from the cell. While considerable information has accumulated regarding recognition of the premature stop codon, less is known about the ...
Joshua A Arribere, Andrew Z Fire
doaj   +2 more sources

Virus Escape and Manipulation of Cellular Nonsense-Mediated mRNA Decay [PDF]

Viruses, 2017
Nonsense-mediated mRNA decay (NMD), a cellular RNA turnover pathway targeting RNAs with features resulting in aberrant translation termination, has recently been found to restrict the replication of positive-stranded RNA ((+)RNA) viruses.
Giuseppe Balistreri, Claudia Bognanni, Oliver Mühlemann   +2 more
doaj   +3 more sources

Attenuation of nonsense-mediated mRNA decay enhances in vivo nonsense suppression. [PDF]

PLoS ONE, 2013
Nonsense suppression therapy is an approach to treat genetic diseases caused by nonsense mutations. This therapeutic strategy pharmacologically suppresses translation termination at Premature Termination Codons (PTCs) in order to restore expression of ...
Kim M Keeling, Dan Wang, Yanying Dai, Srinivasan Murugesan, Balachandra Chenna, Jeremy Clark, Valery Belakhov, Jeyakumar Kandasamy, Sadanandan E Velu, Timor Baasov, David M Bedwell   +10 more
doaj   +1 more source

Molecular Interaction of Nonsense-Mediated mRNA Decay with Viruses

Viruses, 2023
The virus–host interaction is dynamic and evolutionary. Viruses have to fight with hosts to establish successful infection. Eukaryotic hosts are equipped with multiple defenses against incoming viruses.
Md Robel Ahmed, Zhiyou Du
doaj   +1 more source

Exon junction complex dependent mRNA localization is linked to centrosome organization during ciliogenesis

Nature Communications, 2021
Exon junction complexes (EJCs) that mark untranslated mRNA are involved in transport, translation and nonsense-mediated mRNA decay. Here the authors show centrosomal localization of EJCs which appears to be required for both the localization of NIN mRNA ...
Oh Sung Kwon, Rahul Mishra, Adham Safieddine, Emeline Coleno, Quentin Alasseur, Marion Faucourt, Isabelle Barbosa, Edouard Bertrand, Nathalie Spassky, Hervé Le Hir   +9 more
doaj   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Post-transcriptional regulation of 5-lipoxygenase mRNA expression via alternative splicing and nonsense-mediated mRNA decay [PDF]

, 2012
5-Lipoxygenase (5-LO) catalyzes the two initial steps in the biosynthesis of leukotrienes (LT), a group of inflammatory lipid mediators derived from arachidonic acid.
Laura Pufahl (182448), Manuel Grez, Grez, Manuel, Ochs, Meike J., Sorg, Bernd L., Beatrix Suess (17019), Sorg Bernd L., Laura Pufahl, Sorg, Bernd Lothar, Bernd L Sorg, Beatrix Suess, Bernd L. Sorg (182441), Suess Beatrix, Grez Manuel, Steinhilber Dieter, Dieter Steinhilber (182458), Meike J. Ochs (182432), Suess, Beatrix, Manuel Grez (182453), Dieter Steinhilber, Meike J Ochs, Pufahl, Laura, Süß, Beatrix, Pufahl Laura, Ochs, Meike, Steinhilber, Dieter, Ochs Meike J.   +26 more
core   +2 more sources

Quantification of pre-mRNA escape rate and synergy in splicing [PDF]

, 2014
Splicing reactions generally combine high speed with accuracy. However, some of the pre-mRNAs escape the nucleus with a retained intron. Intron retention can control gene expression and increase proteome diversity.
Becskei, Attila, Bonde, M. (M) M. (M), Becskei, A. (A), Baudrimont, A. (A), Séraphin, B. (Bertrand), Mi Bonde, Marie, Voegeli, Sylvia, Bonde, Marie Mi, Baudrimont, Antoine, Voegeli, S. (S), Séraphin, Bertrand, Voegeli, S, Baudrimont, A, Becskei, A   +13 more
core   +1 more source

A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report

BMC Medical Genetics, 2020
Background Marfan syndrome (MFS) is a common autosomal dominant inherited disease, and the occurrence rate is around 0.1–0.2‰. The causative variant of FNB1 gene accounts for approximately 70–80% of all MFS cases. In this study, we found a heterozygous c.
Yuping Niu, Sexin Huang, Zeyu Wang, Peiwen Xu, Lijuan Wang, Jie Li, Ming Gao, Xuan Gao, Yuan Gao   +8 more
doaj   +1 more source

Caffeine boosts Ataluren's readthrough activity

Heliyon, 2019
The readthrough of nonsense mutations by small molecules like Ataluren is considered a novel therapeutic approach to overcome the gene defect in several genetic diseases as cystic fibrosis (CF).
Laura Lentini, Raffaella Melfi, Patrizia Cancemi, Ivana Pibiri, Aldo Di Leonardo   +4 more
doaj   +1 more source