Results 41 to 50 of about 44,110 (224)

Translation termination depends on the sequential ribosomal entry of eRF1 and eRF3.

, 2019
Translation termination requires eRF1 and eRF3 for polypeptide-and tRNA-release on stop codons. Additionally, Dbp5/DDX19 and Rli1/ABCE1 are required; however, their function in this process is currently unknown.
Beissel , C., Hampe , I., Karki, P., Krebber, H., Neumann, B., Uhse, S.   +5 more
core   +1 more source

Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications [PDF]

, 2017
Purpose: Epidermolysis bullosa (EB), the prototype of heritable blistering diseases, is caused by mutations in as many as 19 distinct genes. In this study, we evaluated the molecular basis of EB in 93 families, many of them of unknown subtype. Methods:
Abiri, Maryam, Aghazadeh, Nessa, Bagherian, Hamideh, Barzegar, Mohammadreza, Fortina, Paolo, Hamid, Mohammad, Mahmoudi, Hamidreza, Norouz-zadeh, Sara, Saeidian, Amir Hossein, Sotoudeh, Soheila, Touati, Andrew, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zahabiyon, Mahla, Zeinali, Sirous   +15 more
core   +1 more source

Translational Attenuation Mechanism of ErmB Induction by Erythromycin Is Dependent on Two Leader Peptides

Frontiers in Microbiology, 2021
Ribosome stalling on ermBL at the tenth codon (Asp) is believed to be a major mechanism of ermB induction by erythromycin (Ery). In this study, we demonstrated that the mechanism of ermB induction by Ery depends not only on ermBL expression but also on ...
Shasha Wang, Shasha Wang, Kai Jiang, Xinyue Du, Yanli Lu, Lijun Liao, Zhiying He, Zhiying He, Weizhi He   +8 more
doaj   +1 more source

De novo transcriptome assembly reveals sex-specific selection acting on evolving neo-sex chromosomes in Drosophila miranda. [PDF]

, 2014
BackgroundThe Drosophila miranda neo-sex chromosome system is a useful resource for studying recently evolved sex chromosomes. However, the neo-Y genomic assembly is fragmented due to the accumulation of repetitive sequence.
Bachtrog, Doris, Kaiser, Vera B
core   +2 more sources

Viruses and the cellular RNA decay machinery. [PDF]

, 2010
The ability to control cellular and viral gene expression, either globally or selectively, is central to a successful viral infection, and it is also crucial for the host to respond and eradicate pathogens.
Gaglia, Marta, Glaunsinger, Britt
core   +1 more source

PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features.

PLoS ONE, 2020
IntroductionMcArdle disease presents clinical and genetic heterogeneity. There is no obvious association between genotype and phenotype. PYGM (muscle glycogen phosphorylase gene) mRNA expression and its association with clinical, morphological, and ...
Alzira A S Carvalho, Denise M Christofolini, Matheus M Perez, Beatriz C A Alves, Itatiana Rodart, Francisco W S Figueiredo, Karine C Turke, David Feder, Marcondes C F Junior, Ana M Nucci, Fernando L A Fonseca   +10 more
doaj   +1 more source

UPF1 silenced cellular model systems for screening of read-through agents active on β039 thalassemia point mutation

BMC Biotechnology, 2018
Background Nonsense mutations promote premature translational termination, introducing stop codons within the coding region of mRNAs and causing inherited diseases, including thalassemia.
Francesca Salvatori, Mariangela Pappadà, Giulia Breveglieri, Elisabetta D’Aversa, Alessia Finotti, Ilaria Lampronti, Roberto Gambari, Monica Borgatti   +7 more
doaj   +1 more source

Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families [PDF]

, 2017
The introduction of multigene panel testing for hereditary breast/ovarian cancer screening has greatly improved efficiency, speed, and costs. However, its clinical utility is still debated, mostly due to the lack of conclusive evidences on the impact of ...
Antoniou, Antoniou, Belardinilli, Bernstein, Broeks, Brown, Buffone, Capalbo, Capalbo, Castera, Chen, Coppa, Couch, Cybulski, Daly, Desmond, Easton, Economopoulou, Foulkes, Gad, Giannini, Giannini, Goldgar, Kurian, LaDuca, Li, Lincoln, Lindor, Neitzel, Nicolussi, Os, Plon, Prodosmo, Rebbeck, Renwick, Sandoval, Steffensen, Stratton, Telatar, Thompson, Thompson, Tung, Walsh, Walsh, Weischer, Williams   +45 more
core   +1 more source

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

Stops making sense: translational trade-offs and stop codon reassignment

BMC Evolutionary Biology, 2011
Background Efficient gene expression involves a trade-off between (i) premature termination of protein synthesis; and (ii) readthrough, where the ribosome fails to dissociate at the terminal stop.
Elgar Greg S, Lichtenstein Conrad P, Cotton James A, Johnson Louise J, Nichols Richard A, Polly p David, Le Comber Steven C   +6 more
doaj   +1 more source