Results 31 to 40 of about 20,553 (236)

Improved ANAP incorporation and VCF analysis reveal details of P2X7 current facilitation and a limited conformational interplay between ATP binding and the intracellular ballast domain

eLife, 2023
The large intracellular C-terminus of the pro-inflammatory P2X7 ion channel receptor (P2X7R) is associated with diverse P2X7R-specific functions. Cryo-EM structures of the closed and ATP-bound open full-length P2X7R recently identified a membrane ...
Anna Durner, Ellis Durner, Annette Nicke
doaj   +1 more source

Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development

Biomolecules, 2023
Around 11% of all known gene lesions causing human genetic diseases are nonsense mutations that introduce a premature stop codon (PTC) into the protein-coding gene sequence.
Shan Li, Juan Li, Wenjing Shi, Ziyan Nie, Shasha Zhang, Fengdie Ma, Jun Hu, Jianjun Chen, Peiqiang Li, Xiaodong Xie   +9 more
doaj   +1 more source

Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome

Biomedicines, 2022
Shwachman-Diamond syndrome (SDS) is one of the most commonly inherited bone marrow failure syndromes (IBMFS). In SDS, bone marrow is hypocellular, with marked neutropenia.
Valentino Bezzerri, Laura Lentini, Martina Api, Elena Marinelli Busilacchi, Vincenzo Cavalieri, Antonella Pomilio, Francesca Diomede, Anna Pegoraro, Simone Cesaro, Antonella Poloni, Andrea Pace, Oriana Trubiani, Giuseppe Lippi, Ivana Pibiri, Marco Cipolli   +14 more
doaj   +1 more source

Aminoglycosides, but not PTC124 (Ataluren), rescue nonsense mutations in the leptin receptor and in luciferase reporter genes

Scientific Reports, 2017
In rare cases, monogenetic obesity is caused by nonsense mutations in genes regulating energy balance. A key factor herein is the leptin receptor. Here, we focus on leptin receptor nonsense variants causing obesity, namely the human W31X, murine Y333X ...
Florian Bolze, Sabine Mocek, Anika Zimmermann, Martin Klingenspor   +3 more
doaj   +1 more source

Suppressing nonsense—a surprising function for 5‐azacytidine

EMBO Molecular Medicine, 2014
Abstract In this issue of EMBO Molecular Medicine , Bhuvanagiri et al report on a chemical means to convert molecular junk into gold. They identify a chemical inhibitor of a quality control pathway that is best known for its ability to
Shao, Ada, Wilkinson, Miles F
openaire   +5 more sources

Variable readthrough responsiveness of nonsense mutations in hemophilia A

Haematologica, 2020
Readthrough therapy relies on the use of small molecules that enable premature termination codons in mRNA open reading frames to be misinterpreted by the translation machinery, thus allowing the generation of full-length, potentially functional proteins ...
Lluis Martorell, Vicente Cortina, Rafael Parra, Jordi Barquinero, Francisco Vidal   +4 more
doaj   +1 more source

The Effect of Mutation at Thr 295 of Saccharomyces cerevisiae eRF1 on Suppression of Nonsense Codons and eRF1 Structure

Microbiology Indonesia, 2008
The termination of translation in Saccharomyces cerevisiae is controlled by two interacting polypeptide chain release factors, eRF1, and eRF3. Two regions in eRF1, at position 281-305 and 411-415, were proposed to be involved on the interaction to eRF3 ...
PRIMA ENDANG SUSILOWATI, PINGKAN ADITIAWATI, FIDA MADAYANTI, . AKHMALOKA   +3 more
doaj   +1 more source

Stem rust resistance in wheat is suppressed by a subunit of the mediator complex

Nature Communications, 2020
Stem rust is an important disease of wheat and resistance present in some cultivars can be suppressed by the SuSr-D1 locus. Here the authors show that SuSr-D1 encodes a subunit of the Mediator Complex and that nonsense mutations are sufficient to abolish
Colin W. Hiebert, Matthew J. Moscou, Tim Hewitt, Burkhard Steuernagel, Inma Hernández-Pinzón, Phon Green, Vincent Pujol, Peng Zhang, Matthew N. Rouse, Yue Jin, Robert A. McIntosh, Narayana Upadhyaya, Jianping Zhang, Sridhar Bhavani, Jan Vrána, Miroslava Karafiátová, Li Huang, Tom Fetch, Jaroslav Doležel, Brande B. H. Wulff, Evans Lagudah, Wolfgang Spielmeyer   +21 more
doaj   +1 more source

Translophagy—A potential link between autophagy impairment and translational errors

FEBS Letters, EarlyView.
Neurodegenerative diseases are characterised by the accumulation of abnormal proteins and protein aggregates, but their origin often remains unknown. We propose that selective autophagy removes damaged protein‐making machinery, preventing errors during protein synthesis.
Mykola V. Korolchuk, Gailing Ma, Robin Antrobus, Diego Manni, Marco Trevisan‐Herraz, Mustafa Khwaja, Max Brown, Gavin D. Richardson, Masaaki Komatsu, Daniel Erskine, Viktor I. Korolchuk, Tetsushi Kataura   +11 more
wiley   +1 more source

Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy

Therapeutic Advances in Neurological Disorders, 2010
Duchenne muscular dystrophy (DMD) is the most common, lethal, X-linked genetic disease, affecting 1 in 3500 newborn males. It is caused by mutations in the DMD gene.
Vinod Malik, Louise R. Rodino-Klapac, Laurence Viollet, Jerry R. Mendell   +3 more
doaj   +1 more source