Results 41 to 50 of about 5,883 (112)

Genetic dissection reveals distinct contributions of the eS31 N‐terminal domain to translational accuracy in Saccharomyces cerevisiae

The FEBS Journal, EarlyView.
The eukaryote‐specific N‐terminal domain (NTD) of eS31 uses two distinct strategies to maintain translation fidelity. During elongation, a positively charged “hotspot” fine‐tunes the selection of incoming aa‐tRNA. During termination, the entire NTD acts as a structural scaffold to ensure the correct positioning of the release factor eRF1.
Qingxuan Gao, Hiroshi Otsuka, Kei Endo, Koichi Ito   +3 more
wiley   +1 more source

Comparative evaluation of TRIDs : a strategy to improve treatments

Journal of Translational Medicine
Background Translational readthrough represents a promising therapeutic strategy for genetic disorders caused by nonsense mutations. Although multiple translational readthrough-inducing drugs (TRIDs) have been reported, their relative efficacy remains ...
Fatima Hariss, Sacha Spelier, Louise Damy, Carmen Sandoval Pacheco, Luca Houpe, Catherine Leroy, Xavier Thuru, Frédéric Becq, Fabrice Lejeune   +8 more
doaj   +1 more source

Evaluation of gliovascular functions of AQP4 readthrough isoforms

Frontiers in Cellular Neuroscience, 2023
Aquaporin-4 (AQP4) is a water channel protein that links the astrocytic endfeet to the blood-brain barrier (BBB) and regulates water and potassium homeostasis in the brain, as well as the glymphatic clearance of waste products that would otherwise ...
Shayna M. Mueller, Shayna M. Mueller, Kelli McFarland White, Kelli McFarland White, Stuart B. Fass, Stuart B. Fass, Siyu Chen, Siyu Chen, Siyu Chen, Zhan Shi, Xia Ge, Xia Ge, John A. Engelbach, John A. Engelbach, Seana H. Gaines, Annie R. Bice, Michael J. Vasek, Michael J. Vasek, Joel R. Garbow, Joel R. Garbow, Joseph P. Culver, Joseph P. Culver, Joseph P. Culver, Joseph P. Culver, Joseph P. Culver, Zila Martinez-Lozada, Martine Cohen-Salmon, Joseph D. Dougherty, Joseph D. Dougherty, Joseph D. Dougherty, Darshan Sapkota, Darshan Sapkota   +31 more
doaj   +1 more source

Newly identified human aminoacyl‐tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss‐of‐function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model

The FEBS Journal, EarlyView.
Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen, Shenela Lakhani, Joshua Appelbaum, DéJenaé See, Pryce Patterson, Collin M. MacLeod, Alexandra George, Reza Maroofian, Margaret E. Ross, Christopher Francklyn, Alicia M. Ebert   +10 more
wiley   +1 more source

A guide to transcriptional cyclin‐dependent kinases in cancer

The FEBS Journal, EarlyView.
Transcriptional cyclin‐dependent‐kinases (tCDKs) facilitate gene expression by promoting RNA polymerase II (RNAPII) progression through discrete phases of the transcription cycle. Aberrant tCDK activity is detectable in different human cancers, thereby contributing to de‐regulated gene expression programs that drive oncogenic phenotypes.
Jennifer R. Devlin, Salla Kyheröinen, Ricky W. Johnstone   +2 more
wiley   +1 more source

Programmed Deviations of Ribosomes From Standard Decoding in Archaea

Frontiers in Microbiology, 2021
Genetic code decoding, initially considered to be universal and immutable, is now known to be flexible. In fact, in specific genes, ribosomes deviate from the standard translational rules in a programmed way, a phenomenon globally termed recoding ...
Federica De Lise, Andrea Strazzulli, Andrea Strazzulli, Roberta Iacono, Roberta Iacono, Nicola Curci, Nicola Curci, Mauro Di Fenza, Luisa Maurelli, Marco Moracci, Marco Moracci, Marco Moracci, Beatrice Cobucci-Ponzano   +12 more
doaj   +1 more source

CRISPR‐Cas9 and precision editing technologies linking functional genomics to clinical translation in genetic diseases

Clinical and Translational Medicine, Volume 16, Issue 9, September 2026.
CRISPR‐Cas9 and precision editing technologies enable a variant‐mechanism‐driven framework for genetic disease research and therapeutic development. Pathogenic variants are first interpreted according to mutation type, coding or regulatory consequence, tissue context, and disease mechanism.
Zijing Wen, Jianming Su
wiley   +1 more source

Synergistic Rescue of Nonsense Mutant Tumor Suppressor p53 by Combination Treatment with Aminoglycosides and Mdm2 Inhibitors

Frontiers in Oncology, 2018
The tumor suppressor gene TP53 is inactivated by mutation in a large fraction of human tumors. Around 10% of TP53 mutations are nonsense mutations that lead to premature termination of translation and expression of truncated unstable and non-functional ...
Meiqiongzi Zhang, Angelos Heldin, Mireia Palomar-Siles, Susanne Öhlin, Vladimir J. N. Bykov, Klas G. Wiman   +5 more
doaj   +1 more source

MUTYH Cancer‐Associated Variants Within the Interdomain Connector Differentially Impact Glycosylase Activity and Cellular DNA Repair

ChemBioChem, Volume 27, Issue 13, 14 July 2026.
Functional analysis of cancer‐associated variants of the DNA repair enzyme MUTYH in the interdomain connector between the 8‐oxoguanine (OG) recognition and base excision domains reveals discordance between in vitro assays and OG:A repair in cells. This disconnect highlights the use of complementary biochemical and cellular assays to accurately classify
Cindy Khuu, Melody Malek, Savannah G. Conlon, Geoffrey P. Wadey, Carlos H. Trasviña‐Arenas, Sheila S. David   +5 more
wiley   +1 more source

Genetic Code Expanded T Cell for Controllable Immunotherapy

Advanced Science, Volume 13, Issue 41, 22 July 2026.
Our GCE‐CAR‐T cells enables tight, dose‐dependent, and function‐preserving control of CAR expression at the translational level through amber codon suppression and genetic incorporation of ncAA. ABSTRACT Chimeric antigen receptor (CAR)‐T cell therapy has demonstrated curative potential against hematologic malignancies, but its clinical application ...
Xue Wang, Yingao Gao, Yeyu Su, Yong Wang, Tao Liu   +4 more
wiley   +1 more source