Results 151 to 160 of about 144,851 (284)

Iron Physiology and Its Impact on Atopic Diseases: An EAACI Taskforce Report

open access: yesAllergy, EarlyView.
ABSTRACT Iron is essential for oxygen transport, energy metabolism, and immune regulation. Yet iron deficiency is the most common micronutrient disorder across all age groups, affecting nearly one quarter of the global population. Iron deficiency triggers nutritional immunity, a host defense mechanism that withholds and redistributes iron, contributing
Franziska Roth‐Walter   +19 more
wiley   +1 more source

Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants

open access: yesBritish Journal of Haematology, EarlyView.
Summary Constitutional pathogenic variants in DDX41 predispose to myelodysplasia and acute myeloid leukaemia. Acquisition of subsequent somatic hits in the second allele is frequent, with notable recurrent variants at key hotspots. Sequencing of Deoxyribonucleic acid from blood/marrow of 239 patients with suspected/confirmed haematological malignancies
Andrew George   +13 more
wiley   +1 more source

Compartmentalisation in cAMP signalling: A phase separation perspective

open access: yesBritish Journal of Pharmacology, EarlyView.
Cells rely on precise spatiotemporal control of signalling pathways to ensure functional specificity. The compartmentalisation of cyclic AMP (cAMP) and protein kinase A (PKA) signalling enables distinct cellular responses within a crowded cytoplasmic space.
Milda Folkmanaite, Manuela Zaccolo
wiley   +1 more source

Enhancing antitumour response to proteasome inhibitors with inhibitors of insulin‐degrading enzyme, a new molecular vulnerability in multiple myeloma

open access: yesBritish Journal of Pharmacology, EarlyView.
Inhibitors of insulin‐degrading enzyme boost PI cytotoxicity through an increased sensitivity of proteasome to PI inhibitors, induction of ISR, DNA damage and Myc down‐regulation. They overcome PI resistance in vitro and induce tumour regression in vivo.
Laetitia Lesire   +28 more
wiley   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

open access: yesClinical 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

Oxygen‐independent expression of HIF‐1α during the cell cycle in hepatocellular carcinoma cells controls essential metabolic pathways under normoxia

open access: yesThe FEBS Journal, EarlyView.
In Huh7 cells, HIF‐1α is essential as it maintains the expression of proteins involved in glycolysis and steroid/cholesterol biosynthesis both under normoxia and hypoxia. On the other hand, in HeLa cells, these pathways are induced by HIF‐1α only under hypoxia.
Ioanna‐Maria Gkotinakou   +6 more
wiley   +1 more source

Proteostasis of organelles in aging and disease

open access: yesThe FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi   +5 more
wiley   +1 more source

Single Strand Annealing and ATP-independent Strand Exchange Activities of Yeast and Human DNA2: possible role in Ozaki fragment maturation [PDF]

open access: yes, 2006
The Dna2 protein is a multifunctional enzyme with 5'-3' DNA helicase, DNA-dependent ATPase, 3' exo/endonuclease, and 5' exo/endonuclease. The enzyme is highly specific for structures containing single-stranded flaps adjacent to duplex regions.
Campbell, Judith L.   +2 more
core  

GCN2 in proteostasis: structural logic, signalling networks and disease

open access: yesThe FEBS Journal, EarlyView.
Threats to protein synthesis activate the kinase GCN2, initiating the integrated stress response (ISR). GCN2 is triggered by stalled ribosomes and uncharged tRNAs, which accumulate when amino acids are scarce. The ISR adjusts cellular physiology by promoting redox balance, protein quality control, and mitochondrial optimisation.
JiaYi Zhu, Stefan J. Marciniak
wiley   +1 more source

Respiratory syncytial virus phosphoprotein has NTPase and helicase-like activities

open access: yesJournal of Virology
Respiratory 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

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