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The Impact of Next Generation Sequencing in Diagnosis and Management of Rare Diseases: Bloom Syndrome [PDF]

open access: yesModern Medicine, 2022
Bloom syndrome is an exceptionally rare autosomal recessive disorder characterized by a considerable genomic instability due to the defective DNA damage repair machine.
Ina-Ofelia FOCSA   +6 more
doaj   +1 more source

Analysis of the PcrA-RNA polymerase complex reveals a helicase interaction motif and a role for PcrA/UvrD helicase in the suppression of R-loops

open access: yeseLife, 2021
The PcrA/UvrD helicase binds directly to RNA polymerase (RNAP) but the structural basis for this interaction and its functional significance have remained unclear.
Inigo Urrutia-Irazabal   +4 more
doaj   +1 more source

UPF1—From mRNA Degradation to Human Disorders

open access: yesCells, 2023
Up-frameshift protein 1 (UPF1) plays the role of a vital controller for transcripts, ready to react in the event of an incorrect translation mechanism.
Jacek Staszewski   +4 more
doaj   +1 more source

Z-RNA and the Flipside of the SARS Nsp13 Helicase: Is There a Role for Flipons in Coronavirus-Induced Pathology?

open access: yesFrontiers in Immunology, 2022
We present evidence suggesting that the severe acute respiratory syndrome (SARS) coronavirus non-structural protein 13 (Nsp13) modulates the Z-RNA dependent regulated cell death pathways .
Alan Herbert   +2 more
doaj   +1 more source

Therapeutic potential of compounds targeting SARS-CoV-2 helicase

open access: yesFrontiers in Chemistry, 2022
The economical and societal impact of COVID-19 has made the development of vaccines and drugs to combat SARS-CoV-2 infection a priority. While the SARS-CoV-2 spike protein has been widely explored as a drug target, the SARS-CoV-2 helicase (nsp13) does ...
Matthew T. J. Halma   +6 more
doaj   +1 more source

Helicase Assays [PDF]

open access: yesBIO-PROTOCOL, 2014
Helicases are a class of enzymes which are motor proteins using energy derived from ATP hydrolysis to move directionally along a nucliec acid phosphodiester backbone (such as DNA, RNA and DNA-RNA hybrids) and separate two annealed nucleic acid strands. Many cellular processes, such as transcription, DNA replication, recombination and DNA repair involve
Xin Wang   +3 more
openaire   +3 more sources

A helicase-tethered ORC flip enables bidirectional helicase loading [PDF]

open access: yeseLife, 2021
Replication origins are licensed by loading two Mcm2-7 helicases around DNA in a head-to-head conformation poised to initiate bidirectional replication. This process requires origin–recognition complex (ORC), Cdc6, and Cdt1. Although different Cdc6 and Cdt1 molecules load each helicase, whether two ORC proteins are required is unclear.
Shalini Gupta   +3 more
openaire   +5 more sources

The enigmatic helicase DHX9 and its association with the hallmarks of cancer

open access: yesFuture Science OA, 2021
Much interest has been expended lately in characterizing the association between DExH-Box helicase 9 (DHX9) dysregulation and malignant development, however, the enigmatic nature of DHX9 has caused conflict as to whether it regularly functions as an ...
Chloe Gulliver   +2 more
doaj   +1 more source

A Proof of Principle for the Detection of Viable Brucella spp. in Raw Milk by qPCR Targeting Bacteriophages

open access: yesMicroorganisms, 2020
Brucellosis is still a global health issue, and surveillance and control of this zoonotic disease in livestock remains a challenge. Human outbreaks are mainly linked to the consumption of unpasteurized dairy products.
Michaela Projahn   +3 more
doaj   +1 more source

The DnaA AAA+ Domain His136 Residue Directs DnaB Replicative Helicase to the Unwound Region of the Replication Origin, oriC

open access: yesFrontiers in Microbiology, 2018
Chromosomal replication initiation requires dynamic mechanisms in higher-order nucleoprotein complexes that are constructed at the origin of replication.
Yukari Sakiyama   +5 more
doaj   +1 more source

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