Results 141 to 150 of about 69,317 (259)

Functional characterization of 42 CK2α de novo variants associated with Okur‐Chung neurodevelopmental syndrome

The FEBS Journal, EarlyView.
Okur‐Chung neurodevelopmental syndrome (OCNDS) is a neurodevelopmental disorder associated with mutations in the gene coding for Protein kinase CK2α. In this work, 42 variants of CK2α associated with OCNDS were characterized in vitro. This included determination of catalytic activity and CK2α/CK2β‐interaction as well as an assessment of evolutionary ...
Alexander Gast, Christian Werner, Karsten Niefind, Joachim Jose   +3 more
wiley   +1 more source

CRISPR-free RNA base editing mediated PTC-readthrough restores hearing in mice with Otof nonsense mutation

Nature Communications
The gene therapy achieved by AAV-mediated otoferlin-overexpression is an effective therapeutic strategy for congenital deafness. However, achieving its physiological and endogenous patterns of expression remains challenging.
Hanxiao Sun, Qi Teng, Wenqing Liu, Rui Guo, Menghua Li, Wei Xiong, Qiang Huang, Qianru Yu, Nan Luo, Yang Li, Jinghui Song, Shusheng Gong, Xi Shi, Chengqi Yi, Ke Liu   +14 more
doaj   +1 more source

mRNA-specific readthrough of nonsense codons by antisense oligonucleotides (R-ASOs)

Nucleic Acids Research
AbstractNonsense mutations account for >10% of human genetic disorders, including cystic fibrosis, Alagille syndrome, and Duchenne muscular dystrophy. A nonsense mutation results in the expression of a truncated protein, and therapeutic strategies aim to restore full-length protein expression.
Denis Susorov, Dimas Echeverria, Anastasia Khvorova, Andrei A Korostelev   +3 more
openaire   +2 more sources

Nonsense Codons

Cold Spring Harbor Symposia on Quantitative Biology, 1966
A O, Stretton, S, Kaplan, S, Brenner
openaire   +2 more sources

Hybrid sorghum breeding in China: A historical review and perspectives

Journal of Integrative Plant Biology, EarlyView.
To commemorate the 60th anniversary of the promotion and application of three‐line hybrid sorghum in China, this review highlights pivotal scientific breakthroughs, systematically summarizes the progress in hybrid sorghum breeding and dwarf sorghum breeding in the country, and presents an outlook on the future of sorghum breeding.
Xiangxiang Meng, Lu Li, Qian Qian, Liang Jiang, Zhaosheng Kong   +4 more
wiley   +1 more source

Primary Coenzyme Q10 Deficiency [PDF]

, 2017
open4siCLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive ...
Doimo, Mara, Navas, P., Salviati, Leonardo, Trevisson, Eva   +3 more
core  

OsFKBP20‐1b stabilizes OsUPF1 and OsUPF2 to promote the degradation of aberrant mRNAs during dehydration stress

Journal of Integrative Plant Biology, EarlyView.
The rice protein OsFKBP20‐1b protects key RNA‐surveillance factors from breakdown, so they can better eliminate defective messages. This RNA quality‐control boost reduces errors and helps plants survive drought, revealing a link between RNA control and drought tolerance.
Haemyeong Jung, Hyun Ji Park, Seung Hee Jo, Ki‐Hong Jung, Choonkyun Jung, Hye Sun Cho   +5 more
wiley   +1 more source

Downregulation of eRF1 by RNA interference increases mis-acylated tRNA suppression efficiency in human cells [PDF]

, 2017
The site-specific incorporation of non-natural amino acids into proteins by nonsense suppression has been widely used to investigate protein structure and function. Usually this technique exhibits low incorporation efficiencies of non-natural amino acids
Ilegems, Erwin, Pick, Horst M., Vogel, Horst   +2 more
core  

Co‐inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction

British Journal of Haematology, EarlyView.
Perla Bandini, Nina Borràs, Laura Martin‐Fernandez, Nuria Fernández‐Mosteirín, Maria Reyes Aguinaco, Olga Benítez, Natàlia Comes, Lorena Ramírez, Noemí González, Carina Lera, Carme Altisent, Francisco Vidal, Irene Corrales   +12 more
wiley   +1 more source

Optimized TadA‐derived base editors efficiently manipulate mRNA splicing by A‐to‐G and C‐to‐K editing in potato

Journal of Integrative Plant Biology, EarlyView.
Two optimized TadA‐derived base editors efficiently generate diverse splicing variants by targeting specific splice sites in potato. ABSTRACT Pre‐messenger RNA (pre‐mRNA) splicing is a critical mechanism for post‐transcriptional regulation in plants. Through alternative splicing, plants produce diverse transcriptomes and proteomes that finely regulate ...
Kaiyuan Chen, Yan Zhang, Jiuzhou Deng, Lumin Zhang, Huiying Zhou, Yaxin Duan, Enle Xiao, Guangtao Zhu, Chunzhi Zhang   +8 more
wiley   +1 more source