Results 71 to 80 of about 394,012 (302)

An Equilibrium-Dependent Retroviral mRNA Switch Regulates Translational Recoding [PDF]

, 2011
Most retroviruses require translational recoding of a viral messenger RNA stop codon to maintain a precise ratio of structural (Gag) and enzymatic (Pol) proteins during virus assembly.
D'Souza, Victoria M, Durney, Michael Anthony, Goff, Stephen, Houck-Loomis, Brian, Nagle, Julia Marie, Salguero, Carolina, Shankar, Neelaabh   +6 more
core   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Peptide nucleic acids (PNAs) control function of SARS-CoV-2 frameshifting stimulatory element trough PNA-RNA-PNA triplex formation

Heliyon
The highly structured nature of the SARS-CoV-2 genome provides many promising antiviral drug targets. One particularly promising target is a cis-acting RNA pseudoknot found within a critical region called the frameshifting stimulatory element (FSE).
Md Motiar Rahman, Christopher A. Ryan, Brandon R. Tessier, Eriks Rozners   +3 more
doaj   +1 more source

REPARATION : ribosome profiling assisted (re-)annotation of bacterial genomes [PDF]

, 2017
Prokaryotic genome annotation is highly dependent on automated methods, as manual curation cannot keep up with the exponential growth of sequenced genomes.
Giess, Adam, Jonckheere, Veronique, Menschaert, Gerben, Ndah, Elvis, Valen, Eivind, Van Damme, Petra   +5 more
core   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Ribosome Collisions Result in +1 Frameshifting in the Absence of No-Go Decay

Cell Reports, 2019
Summary: During translation, an mRNA is typically occupied by multiple ribosomes sparsely distributed across the coding sequence. This distribution, mediated by slow rates of initiation relative to elongation, ensures that they rarely collide with each ...
Carrie L. Simms, Liewei L. Yan, Jessica K. Qiu, Hani S. Zaher   +3 more
doaj   +1 more source

Distribution, diversity and evolution of endogenous retroviruses in perissodactyl genomes [PDF]

, 2018
The evolution of mammalian genomes has been shaped by interactions with endogenous retroviruses (ERVs). In this study, we investigated the distribution and diversity of ERVs in the mammalian order Perissodactyla, with a view to understanding their impact
Gifford, Robert, Murcia, Pablo Ramiro, Zhu, Henan   +2 more
core   +1 more source

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

Eukaryotic release factor 1 from Euplotes promotes frameshifting at premature stop codons in human cells

iScience
Summary: Human physiology is highly susceptible to frameshift mutations within coding regions, and many hereditary diseases and cancers are caused by such indels.
Bozhidar-Adrian Stefanov, Elvis Ajuh, Sarah Allen, Mariusz Nowacki   +3 more
doaj   +1 more source

Length-dependent motions of SARS-CoV-2 frameshifting RNA pseudoknot and alternative conformations suggest avenues for frameshifting suppression

Nature Communications, 2022
Modeling the SARS-CoV-2 frameshifting RNA element (FSE), a drug target against Covid-19, the authors analyze the dynamics of three FSE conformations at different lengths to propose a conformational transition pathway and describe anti-viral strategies.
Shuting Yan, Qiyao Zhu, Swati Jain, Tamar Schlick   +3 more
doaj   +1 more source