Clinical Genetics, EarlyView.This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
Saccharomyces cerevisiae Sen1 Helicase Domain Exhibits 5′- to 3′-Helicase Activity with a Preference for Translocation on DNA Rather than RNA [PDF]
, 2015 Stephen Martin-Tumasz, David A. Brow
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Induction of RNA interference by C. elegans mitochondrial dysfunction via the DRH-1/RIG-I homologue RNA helicase and the EOL-1/RNA decapping enzyme [PDF]
, 2020 Kai Mao, Peter C. Breen, Gary Ruvkun
openalex +1 more source
Liquid–Liquid Phase Separation in Major Hallmarks of Cancer
Cell Proliferation, EarlyView.Aberrant condensates formed through phase separation are involved in the dysregulation of various critical cellular processes, including genome stability, transcriptional regulation and signal transduction, thereby promoting malignant transformation and the acquisition of multiple cancer hallmarks.
Chen‐chen Xie +10 more
wiley +1 more source
Estudo do envolvimento da RNA helicase Sub2 na reação de <i>splicing</i> em <i>Trypanosoma brucei</i> [PDF]
, 2018 Camila Maria dos Santos Boralli
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Supplementary Figure 1 from RNA Helicase DDX5 Is a p53-Independent Target of ARF That Participates in Ribosome Biogenesis [PDF]
, 2023 Anthony J. Saporita +8 more
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Human FASTK preferentially binds single‐stranded and G‐rich RNA
The FEBS Journal, EarlyView.Although FASTK is known to play a role in mRNA biology, the mechanism through which it recognizes RNA has yet to be unraveled. Here, we used purified human FASTK to characterize its RNA‐binding properties in vitro. We found that FASTK prefers ssRNA oligonucleotides containing guanines with the potential to form G‐quadruplexes and binds robustly to any ...
Daria M. Dawidziak +7 more
wiley +1 more source
Respiratory syncytial virus phosphoprotein has NTPase and helicase-like activities
Journal of VirologyRespiratory syncytial virus (RSV), a non-segmented, negative-sense RNA virus (NNSV) in the family Pneumoviridae, represents a significant global health burden causing severe lower respiratory tract infections in infants and immunocompromised adults ...
Ting Shu +9 more
doaj +1 more source
Molecular basis of antibiotic sensing by the TetR family regulator CecR – a structural perspective
The FEBS Journal, EarlyView.Escherichia coli CecR, a member of the TetR family regulators, senses selected antibiotics and activates the expression of a putative drug efflux pump. Although present in many pathogenic Enterobacteriales strains, CecR remains poorly characterized. We present the first CecR crystal structure, which reveals a unique tunnel‐like ligand‐binding cavity ...
Agnieszka J. Pietrzyk‐Brzezinska +5 more
wiley +1 more source