Results 21 to 30 of about 2,306,587 (203)

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

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

Human NMD ensues independently of stable ribosome stalling

Nature Communications, 2020
Nonsense-mediated mRNA decay (NMD) was thought to ensue when ribosomes fail to terminate translation properly. However, the authors observe similar ribosome occupancy at stop codons of NMD sensitive and insensitive mRNAs, showing that human NMD is not ...
Evangelos D. Karousis, Lukas-Adrian Gurzeler, Giuditta Annibaldis, René Dreos, Oliver Mühlemann   +4 more
doaj   +1 more source

RNA binding proteins PTBP1 and HNRNPL regulate CFTR mRNA decay

Heliyon, 2023
Background: CFTR nonsense alleles generate negligible CFTR protein due to the nonsense mutation: 1) triggering CFTR mRNA degradation by nonsense-mediated mRNA decay (NMD), and 2) terminating CFTR mRNA translation prematurely.
Amna Siddiqui, Arpit Saxena, Joshua Echols, Viktoria Havasi, Lianwu Fu, Kim M. Keeling   +5 more
doaj   +1 more source

Nonsense-mediated mRNA decay factor UPF1 promotes aggresome formation

Nature Communications, 2020
Nonsense-mediated mRNA decay (NMD) is a translation-coupled process that eliminates mRNAs containing premature translation-termination codons. Here the authors identify a role for the NMD factor UPF1 in protein quality control, whereby truncated ...
Yeonkyoung Park, Joori Park, Hyun Jung Hwang, Byungju Kim, Kwon Jeong, Jeeyoon Chang, Jong-Bong Lee, Yoon Ki Kim   +7 more
doaj   +1 more source

Inhibition of post-termination ribosome recycling at premature termination codons in UPF1 ATPase mutants

eLife, 2020
Recognition and rapid degradation of mRNA harboring premature translation termination codons (PTCs) serves to protect cells from accumulating non-functional and potentially toxic truncated polypeptides. Targeting of PTC-containing transcripts is mediated
Lucas D Serdar, DaJuan L Whiteside, Sarah L Nock, David McGrath, Kristian E Baker   +4 more
doaj   +1 more source

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

Molecular profiling of individual FDA-approved clinical drugs identifies modulators of nonsense-mediated mRNA decay

Molecular Therapy: Nucleic Acids, 2022
Nonsense-mediated mRNA decay (NMD) degrades transcripts with premature stop codons. Given the prevalence of nonsense single nucleotide polymorphisms (SNPs) in the general population, it is urgent to catalog the effects of clinically approved drugs on NMD
Jingrong Zhao, Zhelin Li, Ruchira Puri, Kelvin Liu, Israel Nunez, Liang Chen, Sika Zheng   +6 more
doaj   +1 more source

Antisense suppression of the nonsense mediated decay factor Upf3b as a potential treatment for diseases caused by nonsense mutations

Genome Biology, 2018
Background About 11% of all human genetic diseases are caused by nonsense mutations that generate premature translation termination codons (PTCs) in messenger RNAs (mRNA).
Lulu Huang, Audrey Low, Sagar S. Damle, Melissa M. Keenan, Steven Kuntz, Susan F. Murray, Brett P. Monia, Shuling Guo   +7 more
doaj   +1 more source

ATP hydrolysis by UPF1 is required for efficient translation termination at premature stop codons

Nature Communications, 2016
Nonsense-mediated mRNA decay (NMD) is a quality control pathway that recognizes and degrades transcripts harbouring nonsense mutations. Here the authors show that the ATPase activity of UPF1 mediates functional interactions between the NMD machinery and ...
Lucas D. Serdar, DaJuan L. Whiteside, Kristian E. Baker   +2 more
doaj   +1 more source