Results 21 to 30 of about 204,351 (287)

A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the gene

SAGE Open Medical Case Reports, 2022
Duchenne muscular dystrophy is a severe, X-linked, progressive neuromuscular disorder clinically characterised by muscle weakening and extremely high serum creatine kinase levels.
Xing-Chuan Li, Song Wang, Jia-Rui Zhu, Yu-Shan Yin, Ni Zhang   +4 more
doaj   +1 more source

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

Therapeutic promise of engineered nonsense suppressor tRNAs

Wiley Interdisciplinary Reviews - RNA, 2021
Nonsense mutations change an amino acid codon to a premature termination codon (PTC) generally through a single‐nucleotide substitution. The generation of a PTC results in a defective truncated protein and often in severe forms of disease. Because of the
Joseph J. Porter, Christina S. Heil, J. Lueck   +2 more
semanticscholar   +1 more source

Poly(A)-Binding Protein Regulates the Efficiency of Translation Termination

Cell Reports, 2020
Summary: Multiple factors influence translation termination efficiency, including nonsense codon identity and immediate context. To determine whether the relative position of a nonsense codon within an open reading frame (ORF) influences termination ...
Chan Wu, Bijoyita Roy, Feng He, Kevin Yan, Allan Jacobson   +4 more
doaj   +1 more source

Pharmacological induction of translational readthrough of nonsense mutations in the retinoblastoma (RB1) gene.

PLoS ONE, 2023
The retinoblastoma protein (Rb) is encoded by the RB1 tumor suppressor gene. Inactivation of RB1 by inherited or somatic mutation occurs in retinoblastoma and various other types of tumors.
Mireia Palomar-Siles, Viktor Yurevych, Vladimir J N Bykov, Klas G Wiman   +3 more
doaj   +1 more source

A Simple and Affordable Method to Create Nonsense Mutation Clones of p53 for Studying the Premature Termination Codon Readthrough Activity of PTC124

Biomedicines, 2023
(1) Background: A premature termination codon (PTC) can be induced by a type of point mutation known as a nonsense mutation, which occurs within the coding region. Approximately 3.8% of human cancer patients have nonsense mutations of p53.
Chia-Chi Chen, Ruo-Yu Liao, Fang-Yu Yeh, Yu-Rou Lin, Tze-You Wu, Alexa Escobar Pastor, Danny Danilo Zul, Yun-Chien Hsu, Kuan-Yo Wu, Ke-Fang Liu, Reiji Kannagi, Jang-Yi Chen, Bi-He Cai   +12 more
doaj   +1 more source

Effect of small molecule eRF3 degraders on premature termination codon readthrough

Nucleic Acids Research, 2021
Premature termination codon (PTC) readthrough is considered a potential treatment for genetic diseases caused by nonsense mutations. High concentrations of aminoglycosides induce low levels of PTC readthrough but also elicit severe toxicity.
Alireza Baradaran-Heravi, A. Balgi, S. Hosseini-Farahabadi, Kunho Choi, C. Has, M. Roberge   +5 more
semanticscholar   +1 more source

A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies. [PDF]

PLoS ONE, 2018
Nonsense mutations are present in 10% of patients with CF, produce a premature termination codon in CFTR mRNA causing early termination of translation, and lead to lack of CFTR function.
Daniel R McHugh, Miarasa S Steele, Dana M Valerio, Alexander Miron, Rachel J Mann, David F LePage, Ronald A Conlon, Calvin U Cotton, Mitchell L Drumm, Craig A Hodges   +9 more
doaj   +1 more source

Nonsense Codons Trigger an RNA Partitioning Shift [PDF]

Journal of Biological Chemistry, 2009
T-cell receptor-beta (TCRbeta) genes naturally acquire premature termination codons (PTCs) as a result of programmed gene rearrangements. PTC-bearing TCRbeta transcripts are dramatically down-regulated to protect T-cells from the deleterious effects of the truncated proteins that would otherwise be produced.
Angela D, Bhalla, Jayanthi P, Gudikote, Jun, Wang, Wai-Kin, Chan, Yao-Fu, Chang, O Renee, Olivas, Miles F, Wilkinson   +6 more
openaire   +2 more sources

Repurposing tRNAs for nonsense suppression

Nature Communications, 2021
Three stop codons (UAA, UAG and UGA) terminate protein synthesis and are almost exclusively recognized by release factors. Here, we design de novo transfer RNAs (tRNAs) that efficiently decode UGA stop codons in Escherichia coli. The tRNA designs harness
S. Albers, B. Beckert, M. Matthies, C. S. Mandava, Raphael Schuster, C. Seuring, M. Riedner, S. Sanyal, A. Torda, Daniel N. Wilson, Z. Ignatova   +10 more
semanticscholar   +1 more source