Results 71 to 80 of about 133,000 (265)

Nonsense Mutations in Close Proximity to the Initiation Codon Fail to Trigger Full Nonsense-mediated mRNA Decay [PDF]

Journal of Biological Chemistry, 2004
Nonsense-mediated mRNA decay (NMD) is a surveillance mechanism that degrades mRNAs containing premature translation termination codons. In mammalian cells, a termination codon is ordinarily recognized as "premature" if it is located greater than 50-54 nucleotides 5' to the final exon-exon junction.
Inácios, Ângela, Silva, Ana Luísa, Pinto, Joana, Ji, Xinjun, Morgado, Ana, Almeida, Fátima, Faustino, Paula, Lavinha, João, Liebhaber, Stephen A., Romão, Luísa   +9 more
openaire   +3 more sources

Codon-anticodon recognition patterns and codon usage of the A. venetum chloroplast genome.

, 2022
Codon-anticodon recognition patterns and codon usage of the A. venetum chloroplast genome.
Deyu Cai (11592160), Jialin Bai (3813967), Zhuanxia Wang (12225523), Lei Song (30203), Xiaonong Guo (12225520)   +4 more
core   +1 more source

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Expanding Genetic Code to Generate Human Brain Organoids with Both Vasculature and Microglia‐Like Cells

Advanced Science, EarlyView.
Using genetic code expansion, we engineered vascularized human cerebral organoids (vhCOs) with microglia‐like cells and blood‐brain barrier features. vhCOs recapitulate neurovascular interactions, regional identities, and neuronal subtypes resembling the fetal brain.
Haishuang Lin, Yaqing Wang, Hu Du, Yuxin Qin, Haoyu Zhang, Peng Wang, Lin Wei, Jianhua Qin   +7 more
wiley   +1 more source

Nonsense mRNA suppression via nonstop decay

eLife, 2018
Nonsense-mediated mRNA decay is the process by which mRNAs bearing premature stop codons are recognized and cleared from the cell. While considerable information has accumulated regarding recognition of the premature stop codon, less is known about the ...
Joshua A Arribere, Andrew Z Fire
doaj   +1 more source

Codon-anticodon recognition patterns and codon usage in the chloroplast genome of I. rubescens.

, 2022
Codon-anticodon recognition patterns and codon usage in the chloroplast genome of I. rubescens.
Conglong Lian (3563201), Jingfan Yang (12359907), Suiqing Chen (5680193), Xueyu Zhang (2472706), Jinxu Lan (12359904), Hao Yang (328526), Fei Zhang (85787)   +6 more
core   +1 more source

CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome

Advanced Science, EarlyView.
By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen, Zhiquan Liu, Wenmin Wang, Qing Wang, Tia J. Kowal, Fan Zhang, Grzegorz Walkiewicz, Faruk Hossen, Herbert M. Lachman, Jinqiong Zhou, Yiting Wang, Yang Sun   +11 more
wiley   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Therapeutic targeting of TP53 nonsense mutations in cancer

Upsala Journal of Medical Sciences
Mutations in the TP53 tumor suppressor gene occur with high prevalence in a wide range of human tumors. A significant fraction of these mutations (around 10%) are nonsense mutations, creating a premature termination codon (PTC) that leads to the ...
Charlotte Strandgren, Klas G. Wiman
doaj   +1 more source

The antimalarial drug mefloquine enhances TP53 premature termination codon readthrough by aminoglycoside G418.

PLoS ONE, 2019
Nonsense mutations constitute ~10% of TP53 mutations in cancer. They introduce a premature termination codon that gives rise to truncated p53 protein with impaired function.
Michael W Ferguson, Chloe A N Gerak, Christalle C T Chow, Ettore J Rastelli, Kyle E Elmore, Florian Stahl, Sara Hosseini-Farahabadi, Alireza Baradaran-Heravi, Don M Coltart, Michel Roberge   +9 more
doaj   +1 more source