Results 61 to 70 of about 5,883 (112)

Anticodon-engineered tRNAs restore full-length MeCP2 expression and function in Rett syndrome nonsense mutations

Frontiers in Neurology
BackgroundRett syndrome (RTT) is a severe neurodevelopmental disorder most commonly caused by loss-of-function mutations in the MECP2 gene, including a substantial fraction of nonsense variants.
Elena Fara, Stefano Pezzini, Ginevra Arpaia, Angelisa Frasca, Joseph J. Porter, John D. Lueck, John D. Lueck, John D. Lueck, Nicoletta Landsberger, Nicoletta Landsberger   +9 more
doaj   +1 more source

Running the Stop Sign: Readthrough of a Premature UAG Termination Signal in the Translation of a Zebrafish (Danio rerio) Taurine Biosynthetic Enzyme

Marine Drugs, 2017
The UAG termination codon is generally recognized as the least efficient and least frequently used of the three universal stop codons. This is substantiated by numerous studies in an array of organisms.
Mary E.M. Larkin, Allen R. Place
doaj   +1 more source

Decoding cancer‐associated ribosomal protein mutations: A new frontier in cancer and ribosome biology

HemaSphere, Volume 10, Issue 9, September 2026.
Mirsada Čaušević, Robbie Loewith, Siniša Volarević   +2 more
wiley   +1 more source

A structural and functional analysis of opal stop codon translational readthrough during Chikungunya Virus replication [PDF]

J Gen Virol, 2023
Li R, Sun K, Tuplin A, Harris M.
europepmc   +2 more sources

Translational error in mice increases with ageing in an organ-dependent manner

Nature Communications
The accuracy of protein synthesis and its relation to ageing has been of long-standing interest. To study whether spontaneous changes in the rate of ribosomal error occur as a function of age, we first determined that stop-codon readthrough is a more ...
Erik C. Böttger, Harshitha Santhosh Kumar, Adrian Steiner, Emmanuel Sotirakis, Kader Thiam, Patricia Isnard Petit, Petra Seebeck, David P. Wolfer, Dimitri Shcherbakov, Rashid Akbergenov   +9 more
doaj   +1 more source

Distinct responses of

Molecular Therapy: Nucleic Acids
Junctional epidermolysis bullosa (JEB) caused by COL17A1 pathogenic variants (JEB-C17) is characterized by skin fragility, chronic wounds, and an increased risk of squamous cell carcinoma.
Yan Tan, Haifa El Mabrouk, Rui Zhang, Sato Magassa, Cristina Has, Saliha Beyza Sayar   +5 more
doaj   +1 more source

2348 Lafora disease premature termination codons (PTCs) are likely candidates for suppression by aminoglycosides

Journal of Clinical and Translational Science, 2018
OBJECTIVES/SPECIFIC AIMS: A small molecule therapy is within reach to treat a molecular mechanism known to result in thousands of fatal diseases. For 10% of patients with a genetic disease, a nonsense/STOP mutation/premature termination codon (PTC) is ...
Zoe R. Simmons, Amanda Sherwood, Selena Li, Sylvie Garneau-Tsodikova, Matthew Gentry   +4 more
doaj   +1 more source

Fluorescent reporters give new insights into antibiotics-induced nonsense and frameshift mistranslation

Scientific Reports
We developed a reporter system based on simultaneous expression of two fluorescent proteins: GFP as a reporter of the capacity of protein synthesis and mutated mScarlet-I as a reporter of translational errors.
Mariliis Hinnu, Marta Putrinš, Karin Kogermann, Niilo Kaldalu, Tanel Tenson   +4 more
doaj   +1 more source

Beyond the stop: Oxadiazole TRIDs restore LRBA protein expression in nonsense-driven primary immunodeficiency

Molecular Therapy: Nucleic Acids
Nonsense mutations are among the genetic causes of LRBA (lipopolysaccharide-responsive beige-like anchor) deficiency, a rare autosomal-recessive immunodeficiency disorder.
Ignazio Fiduccia, Emanuele Vitale, Riccardo Varrica, Davide Ricci, Sefora Marino, Antonino Zito, Andrea Pace, Alain Colige, Michel Moutschen, Yasmin Borutzki, Andrea Bileck, Samuel M. Meier-Menches, Laura Lentini, Ivana Pibiri   +13 more
doaj   +1 more source

Seryl-tRNA synthetase promotes translational readthrough by mRNA binding and involvement of the selenocysteine incorporation machinery. [PDF]

Nucleic Acids Res, 2023
Liu Z, Wang J, Shi Y, Yee BA, Terrey M, Zhang Q, Lee JC, Lin KI, Wang AH, Ackerman SL, Yeo GW, Cui H, Yang XL.   +12 more
europepmc   +1 more source