Results 51 to 60 of about 44,110 (224)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Engineered transfer RNAs for suppression of premature termination codons

Nature Communications, 2019
Premature termination codon suppression therapy could be used to treat a range of genetic disorders. Here the authors present a high-throughput cell-based assay to identify anticodon engineered tRNAs with high suppression activity.
John D. Lueck, Jae Seok Yoon, Alfredo Perales-Puchalt, Adam L. Mackey, Daniel T. Infield, Mark A. Behlke, Marshall R. Pope, David B. Weiner, William R. Skach, Paul B. McCray, Christopher A. Ahern   +10 more
doaj   +1 more source

Early LQT2 Nonsense Mutation Generates N-Terminally Truncated hERG Channels with Altered Gating Properties by the Reinitiation of Translation

, 2012
Mutations in the human ether-a-go-go-related gene (hERG) result in long QT syndrome type 2 (LQT2). The hERG gene encodes a K+ channel that contributes to the repolarization of the cardiac action potential.
Gong, Qiuming, Packer, Jonathan D., Stump, Matthew R., Zhou, Zhengfeng   +3 more
core   +1 more source

An Engineered Living Material With Pro‐Angiogenic Activity Inducible by Near‐Infrared Light

Advanced Functional Materials, EarlyView.
NIR‐responsive engineered living materials (ELMs) for controlled angiogenesis: Near‐infrared (800 nm) light activates engineered probiotic bacteria within alginate‐based living materials to secrete a blood vessel‐regenerating protein. The released protein promotes pro‐angiogenic effects in endothelial networks and chick chorioallantoic membranes.
Anwesha Chatterjee, Stefanie S. M. Meier, Sara Trujillo, Andreas Möglich, Shrikrishnan Sankaran   +4 more
wiley   +1 more source

Multiple transcripts from a 3'-UTR reporter vary in sensitivity to nonsense-mediated mRNA decay in Saccharomyces cerevisiae. [PDF]

PLoS ONE, 2013
Nonsense-mediated mRNA decay (NMD) causes accelerated transcript degradation when a premature translation termination codon disrupts the open reading frame (ORF).
John M Zaborske, Bethany Zeitler, Michael R Culbertson   +2 more
doaj   +1 more source

Slip of grip of a molecular motor on a crowded track: Modeling shift of reading frame of ribosome on RNA template

, 2016
We develop a stochastic model for the programmed frameshift of ribosomes synthesizing a protein while moving along a mRNA template. Normally the reading frame of a ribosome decodes successive triplets of nucleotides on the mRNA in a step-by-step manner ...
Chowdhury, Debashish, Mishra, Bhavya, Schütz, Gunter M.   +2 more
core   +1 more source

Translation initiation factor eIF3 promotes programmed stop codon readthrough. [PDF]

, 2015
Programmed stop codon readthrough is a post-transcription regulatory mechanism specifically increasing proteome diversity by creating a pool of C-terminally extended proteins.
Beznoskova, Petra, Jansen, Myrte E, Valasek, Leos S, von der Haar, Tobias, Wagner, Susan   +4 more
core   +1 more source

Hierarchically Engineered Multi‐Enzyme Nanoreactors for in vitro Drug Biosynthesis and Pathway Transplantation Into Cells

Advanced Materials, EarlyView.
A hierarchically structured metal–organic framework (eMIL) is shown to host the complete six‐enzyme biosynthesis pathway for the anti‐cancer pigment violacein, reshaping reaction dynamics and multiplying in vitro yields. eMIL nanoreactors deliver this reconstituted bacterial multi‐protein system into mammalian cells, where cell‐derived substrates and ...
Ainur Sharip, Somayah S. Qutub, Manar M. Farooqui, Walaa Baslyman, Nida Khalfay, Lukman O. Alimi, Patricia Lopez Sanchez, Lingyun Zhao, Milena Chernyshevskaia, Giovanni Colombo, Niveen M. Khashab, Stefan T. Arold, Raik Grünberg   +12 more
wiley   +1 more source

Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia

Human Genome Variation, 2021
Congenital tooth agenesis is a common anomaly in humans. We investigated the etiology of human tooth agenesis by exome analysis in Japanese patients, and found a previously undescribed heterozygous deletion (NM_002448.3(MSX1_v001):c.433_449del) in the ...
Junya Adachi, Yoshihiko Aoki, Tadashi Tatematsu, Hiroki Goto, Atsuo Nakayama, Takeshi Nishiyama, Katsu Takahashi, Masatoshi Sana, Akiko Ota, Junichiro Machida, Toru Nagao, Yoshihito Tokita   +11 more
doaj   +1 more source

Farnesyltransferase Deficiency in Cardiomyocytes Initiates Senescence and Contributes to Cardiac Fibrosis

Advanced Science, EarlyView.
Lipid overload suppresses SREBF2‐mediated FNTB expression, leading to defective Lamin A maturation and nuclear envelope instability. This nuclear catastrophe triggers a pro‐fibrotic senescence program in cardiomyocytes. Notably, restoring nuclear integrity via AAV9‐based gene therapy effectively attenuates cardiac remodeling, identifying the ...
Yuxiao Chen, Lian Lou, Xuan Zhang, Lin Yan, Qi Zhang, Wen Shi, Jie Ding, Xu Lin, Rong Jiang, Shuo Liu, Thida Sok, Pengli Wang, Yun Mou, Jie Han, Shenjiang Hu, Xiaogang Guo, Jian Yang   +16 more
wiley   +1 more source