Results 31 to 40 of about 570,682 (269)
Proceedings of the National Academy of Sciences, 2001 Xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD) constitute a family of sun-sensitive human diseases (1). They are caused by mutations in the components of the nucleotide excision repair (NER) system and in the postreplication repair system involving the low-fidelity polymerase H (also known as XP variant or XPV).
R R, Laposa, J E, Cleaver
openaire +2 more sources
Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation
FEBS Letters, EarlyView.Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe +3 more
wiley +1 more source
Experimental and Molecular MedicineRecQ helicases, highly conserved proteins with pivotal roles in DNA replication, DNA repair and homologous recombination, are crucial for maintaining genomic integrity.
Mansoor Hussain +7 more
doaj +1 more source
Computational and Structural Biotechnology Journal, 2021 The hotspot mutations of SF3B1, the most frequently mutated splicing gene in cancers, contribute to oncogenesis by corrupting the mRNA splicing. Further SF3B1 mutations have been reported in cancers but their consequences remain unclear.
Christine Canbezdi +7 more
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FEBS Letters, EarlyView.The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li +2 more
wiley +1 more source
FEBS Open BioApurinic/apyrimidinic endodeoxyribonuclease 1 (APE1) is a multifunctional protein involved in DNA repair, transcriptional regulation, and redox signaling, which significantly contributes to cancer progression and chemoresistance.
Matilde Clarissa Malfatti +3 more
doaj +1 more source
eLife, 2018 TOPBP1 and its fission yeast homologue Rad4, are critical players in a range of DNA replication, repair and damage signalling processes. They are composed of multiple BRCT domains, some of which bind phosphorylated motifs in other proteins. They thus act
Matthew Day +5 more
doaj +1 more source
SARS-CoV-2: from its discovery to genome structure, transcription, and replication
Cell & Bioscience, 2021 SARS-CoV-2 is an extremely contagious respiratory virus causing adult atypical pneumonia COVID-19 with severe acute respiratory syndrome (SARS). SARS-CoV-2 has a single-stranded, positive-sense RNA (+RNA) genome of ~ 29.9 kb and exhibits significant ...
Ayslan Castro Brant +4 more
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FEBS Letters, EarlyView.In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai +9 more
wiley +1 more source
eLife, 2019 Coordination of the cellular response to DNA damage is organised by multi-domain ‘scaffold’ proteins, including 53BP1 and TOPBP1, which recognise post-translational modifications such as phosphorylation, methylation and ubiquitylation on other proteins ...
Nicolas Bigot +5 more
doaj +1 more source