Results 1 to 10 of about 747,509 (280)

Nonsense mutations can increase mRNA levels [PDF]

Biology Open
Nonsense mutations can reduce mRNA levels, as premature translation termination may lead to the activation of nonsense-mediated mRNA decay (NMD). To examine how positional context influences these outcomes, we introduced premature translation termination
Precious O. Owuamalam, Md. Nazmul Hossain, Saverio Brogna   +2 more
doaj   +4 more sources

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review [PDF]

Frontiers in Neurology, 2022
BackgroundHomozygous or compound heterozygous mutations in the high-temperature requirement A serine protease 1 gene (HTRA1) elicits cerebral autosomal recessive arteriopathy with subcortical infarcts and white matter lesions (CARASIL).
Weijie Chen, Yuanyuan Wang, Shengwen Huang, Xiaoli Yang, Liwei Shen, Danhong Wu   +5 more
doaj   +2 more sources

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

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   +2 more sources

Translation velocity determines the efficacy of engineered suppressor tRNAs on pathogenic nonsense mutations [PDF]

Nature Communications
Nonsense mutations – the underlying cause of approximately 11% of all genetic diseases – prematurely terminate protein synthesis by mutating a sense codon to a premature stop or termination codon (PTC).
Nikhil Bharti, Leonardo Santos, Marcos Davyt, Stine Behrmann, Marie Eichholtz, Alejandro Jimenez-Sanchez, Jeong S. Hong, Andras Rab, Eric J. Sorscher, Suki Albers, Zoya Ignatova   +10 more
doaj   +2 more sources

Targeted pseudouridylation: An approach for suppressing nonsense mutations in disease genes [PDF]

Molecular Cell, 2023
Pedro Morais, Yi-Tao Yu, Hironori Adachi
exaly   +2 more sources

Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview [PDF]

IUBMB Life
Ivana Pibiri, Laura Lentini, Alessio Branchini   +2 more
exaly   +2 more sources

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

Efficient suppression of endogenous CFTR nonsense mutations using anticodon-engineered transfer RNAs [PDF]

Molecular Therapy - Nucleic Acids, 2022
John Lueck, Wooree Ko, Joseph J Porter
exaly   +2 more sources

Nonsense mutation suppression is enhanced by targeting different stages of the protein synthesis process.

PLoS Biology, 2023
The introduction of premature termination codons (PTCs), as a result of splicing defects, insertions, deletions, or point mutations (also termed nonsense mutations), lead to numerous genetic diseases, ranging from rare neuro-metabolic disorders to ...
Amnon Wittenstein, Michal Caspi, Ido Rippin, Orna Elroy-Stein, Hagit Eldar-Finkelman, Sven Thoms, Rina Rosin-Arbesfeld   +6 more
doaj   +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