Results 151 to 160 of about 50,057 (258)

Aminoacyl‐tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (aaRS) are essential enzymes that charge tRNAs with their corresponding amino acids, playing a critical role in protein synthesis. All 37 nuclear‐encoded ARS genes, comprising both cytosolic (ARS1) and mitochondrial (ARS2) isoforms, have now been linked to human disease.
M. I. Mendes, D. E. Smith, V. Spek, A. M. Bosch, W. E. Corpeleijn, M. Engelen, S. A. Fuchs, A. Hadchouel, I. U. Heinemann, R. H. Houtkooper, E. M. M. Hoytema van Konijnenburg, S. Kemp, M. Langeveld, C. D. M. Karnebeek, A. Pop, V. M. Siu, N. I. Wolf, G. S. Salomons   +17 more
wiley   +1 more source

A GFP-based reporter system to monitor nonsense-mediated mRNA decay [PDF]

, 2017
Aberrant mRNAs whose open reading frame (ORF) is truncated by the presence of a premature translation-termination codon (PTC) are recognized and degraded in eukaryotic cells by a process called nonsense-mediated mRNA decay (NMD).
Azzalin, Claus M., Hirschi, Nadine, Mühlemann, Oliver, Paillusson, Alexandra, Vallan, Claudio   +4 more
core  

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

CYLD Cutaneous Syndrome: Report of a New Splicing Pathogenic Variant and Additional Evidence Supporting the Absence of Genotype–Phenotype Correlation

International Journal of Dermatology, EarlyView.
Agathe Hercent, Adrien Borgel, Jerôme Lamoril, Florent Grange, Frédérique Carré‐Pigeon, Caroline Kannengiesser, Dimitri Tchernitchko   +6 more
wiley   +1 more source

GmSNAP14: a key contributor to soybean cyst nematode resistance in soybean

New Phytologist, Volume 250, Issue 4, Page 2477-2494, May 2026.
Summary Soybean (Glycine max) plants counteract soybean cyst nematode (SCN, Heterodera glycines Ichinohe) infection through an impairment of soluble N‐ethylmaleimide‐sensitive factor (NSF) attachment protein (α‐SNAP) – NSF interactions and vesicular trafficking leading to cellular toxicity in response to nematode feeding.
Vinavi A. Gamage, Mariola Usovsky, Anser Mahmood, Elizabeth De Meyer, Bishnu Dhital, Clinton G. Meinhardt, Qijian Song, Lesa J. Beamer, Andrew M. Scaboo, Melissa G. Mitchum   +9 more
wiley   +1 more source

UPF1 regulates mRNA stability by sensing poorly translated coding sequences

Cell Reports
Summary: Post-transcriptional mRNA regulation shapes gene expression, yet how cis-elements and mRNA translation interface to regulate mRNA stability is poorly understood.
Damir Musaev, Mario Abdelmessih, Charles E. Vejnar, Valeria Yartseva, Linnea A. Weiss, Ethan C. Strayer, Carter M. Takacs, Antonio J. Giraldez   +7 more
doaj   +1 more source

The hidden regulators: Non‐coding RNAs in KMT2A‐rearranged acute lymphoblastic leukemia

International Journal of Cancer, Volume 158, Issue 8, Page 2003-2012, 15 April 2026.
Abstract Acute lymphoblastic leukemia (ALL) driven by KMT2A rearrangements (KMT2A‐r) is an aggressive hematologic malignancy with poor prognosis and a high incidence in infants. While KMT2A fusion proteins drive leukemogenesis through transcriptional dysregulation, recent discoveries have highlighted the pivotal role of non‐coding RNAs (ncRNAs) in ...
Maria Augusta Poersch, Ana Carolina Rodrigues, Priscila Elias Ferreira Stricker, Alexandre Luiz Korte Azevedo, Daniel Pacheco Bruschi, Jaqueline Carvalho de Oliveira   +5 more
wiley   +1 more source

Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors [PDF]

, 2018
Nonsense-mediated decay is well known by the lucid definition of being a RNA surveillance mechanism that ensures the speedy degradation of mRNAs containing premature translation termination codons.
Kleinschmidt, Nicole, Metze, Stefanie, Mühlemann, Oliver, Nicholson, Pamela, Yepiskoposyan, Hasmik, Zamudio Orozco, Rodolfo   +5 more
core  

Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans

Proceedings of the National Academy of Sciences of the United States of America, 2002
Benjamin P. Lewis, R. Green, S. Brenner
semanticscholar   +1 more source

Nonsense-mediated mRNA decay [PDF]

Current Biology, 2002
openaire   +2 more sources