Results 91 to 100 of about 17,359 (221)

Optimized TadA‐derived base editors efficiently manipulate mRNA splicing by A‐to‐G and C‐to‐K editing in potato

Journal of Integrative Plant Biology, EarlyView.
Two optimized TadA‐derived base editors efficiently generate diverse splicing variants by targeting specific splice sites in potato. ABSTRACT Pre‐messenger RNA (pre‐mRNA) splicing is a critical mechanism for post‐transcriptional regulation in plants. Through alternative splicing, plants produce diverse transcriptomes and proteomes that finely regulate ...
Kaiyuan Chen, Yan Zhang, Jiuzhou Deng, Lumin Zhang, Huiying Zhou, Yaxin Duan, Enle Xiao, Guangtao Zhu, Chunzhi Zhang   +8 more
wiley   +1 more source

TRPC1 transcript variants, inefficient nonsense-mediated decay and low up-frameshift-1 in vascular smooth muscle cells [PDF]

, 2011
Background Transient Receptor Potential Canonical 1 (TRPC1) is a widely-expressed mammalian cationic channel with functional effects that include stimulation of cardiovascular remodelling.
Alan N Bateson, Alexandra M Dedman, Bhaskar Kumar, Christopher Munsch, David J Beech, Fanning Zeng, Hans-Martin Jäck, Jürgen Wittmann, Karen E Porter, Sarka Tumova, Yasser Majeed   +10 more
core   +4 more sources

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

The nuclear cap-binding protein complex is not essential for nonsense-mediated mRNA decay (NMD) in plants.

Acta Biochimica Polonica, 2008
In this study we investigated whether in plants, like in mammals, components of the nuclear cap-binding protein complex (CBC) are involved in nonsense-mediated mRNA decay (NMD). We selected several genes producing at least two alternatively spliced mRNA variants: one with a premature termination codon (PTC+) and another without it (PTC-). For each gene
Agnieszka, Dzikiewicz-Krawczyk, Paulina, Piontek, Zofia, Szweykowska-Kulińska, Artur, Jarmołowski   +3 more
openaire   +2 more sources

When a ribosome encounters a premature termination codon [PDF]

BMB Reports, 2013
In mammalian cells, aberrant transcripts harboring a prematuretermination codon (PTC) can be generated by abnormal orinefficient biogenesis of mRNAs or by somatic mutation.Truncated polypeptides synthesized from these aberranttranscripts could be toxic ...
Jungwook Hwang, Yoon Ki Kim
doaj   +1 more source

Compound C inhibits nonsense-mediated RNA decay independently of AMPK [PDF]

, 2018
The nonsense mediated RNA decay (NMD) pathway safeguards the integrity of the transcriptome by targeting mRNAs with premature translation termination codons (PTCs) for degradation.
Cheruiyot, Abigael, Fitzpatrick, James A. J., Li, Shan, Nickless, Andrew, Roth, Robyn, You, Zhongsheng   +5 more
core   +2 more sources

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 ‐Related Phenotype

Clinical Genetics, Volume 109, Issue 5, Page 972-977, May 2026.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

FMRP-mediated spatial regulation of physiologic NMD targets in neuronal cells

Genome Biology
In non-polarized cells, nonsense-mediated mRNA decay (NMD) generally begins during the translation of newly synthesized mRNAs after the mRNAs are exported to the cytoplasm.
Tatsuaki Kurosaki, Xavier Rambout, Lynne E. Maquat   +2 more
doaj   +1 more source

Systematic analysis of nonsense variants uncovers peptide release rate as a novel modifier of nonsense-mediated mRNA decay

Cell Genomics
Summary: The phenotypic impact of nonsense variants is determined by nonsense-mediated mRNA decay (NMD), which degrades transcripts with premature termination codons (PTCs).
Divya Kolakada, Rui Fu, Nikita Biziaev, Alexey Shuvalov, Mlana Lore, Amy E. Campbell, Michael A. Cortázar, Marcin P. Sajek, Jay R. Hesselberth, Neelanjan Mukherjee, Elena Alkalaeva, Zeynep H. Coban-Akdemir, Sujatha Jagannathan   +12 more
doaj   +1 more source

eIF4A3 Phosphorylation by CDKs Affects NMD during the Cell Cycle

Cell Reports, 2019
Summary: Exon junction complexes (EJCs) loaded onto spliced mRNAs during splicing serve as molecular markers for various post-transcriptional gene-regulatory processes, including nonsense-mediated mRNA decay (NMD).
Incheol Ryu, You-Sub Won, Hongseok Ha, Eunjin Kim, Yeonkyoung Park, Min Kyung Kim, Do Hoon Kwon, Junho Choe, Hyun Kyu Song, Hosung Jung, Yoon Ki Kim   +10 more
doaj   +1 more source