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Mitochondria are the energy-generating hubs of the cell. In spite of considerable advances, our understanding of the factors that regulate the molecular circuits that govern mitochondrial function remains incomplete. Using a genome-wide functional screen, we have identified the poorly characterized ...
ORGANISM(S): Mus musculus (Mouse) 
2018-03-06 | PXD008833 | Pride
The COVID-19 pandemic is an infectious disease caused by SARS-CoV-2. The first step of SARS-CoV-2 infection is the recognition of angiotensin-converting enzyme 2 (hACE2) receptors by the receptor-binding domain (RBD) of the viral spike (S) glycoprotein. Although the molecular and structural bases of...
ORGANISM(S): Homo sapiens (Human) 
2023-01-09 | PXD038005 | Pride
Protein arginine methyltransferases (PRMTs) catalyze arginine methylation, an abundant post-translational modification occurring on both chromatin-bound and cytoplasmic proteins. Growing evidence supports the involvement of PRMT5, the major Type II PRMT, in pro-survival and differentiation pathways,...
ORGANISM(S): Homo sapiens (Human) 
2019-04-10 | PXD009070 | Pride
Ex-vivo gene editing in T cells and hematopoietic stem/progenitor cells (HSPCs) holds promise for treating diseases by non-homologous end joining (NHEJ) gene disruption or homology-driven repair (HDR) gene correction. Gene editing encompasses delivery of nucleases by electroporation and, when aiming...
ORGANISM(S): Homo sapiens (Human) 
2024-01-26 | PXD037529 | Pride
Transcription termination pathways mitigate the detrimental consequences of unscheduled promiscuous initiation occurring at hundreds of thousands of genomic cis-regulatory elements. The Restrictor complex, composed of the Pol II-interacting protein WDR82 and the RNA-binding protein ZC3H4, suppresses...
ORGANISM(S): Homo sapiens (Human) 
2024-05-23 | PXD043638 | Pride
Copy number variations at 7q11.23 cause neurodevelopmental disorders with shared and opposite manifestations. Deletion leads to Williams-Beuren syndrome (WBS), while duplication causes 7q11.23 microduplication syndrome (7Dup). Converging evidence indicates GTF2I, from the 7q11.23 locus, is a key me...
ORGANISM(S): Homo sapiens (Human) 
2024-01-26 | PXD036770 | Pride
COVID-19 is an infectious disease caused by beta-coronavirus SARS-CoV-2 which has rapidly spread across the globe starting from February 2020. It is well established that during viral infection extracellular vesicles become delivery/presenting vectors of viral material. However, studies regarding ex...
ORGANISM(S): Homo sapiens (Human) 
2022-02-11 | PXD029007 | Pride
Histone modifying enzymes depend on the availability of cofactors, with acetyl-CoA being required for histone acetyltransferase (HAT) activity. The discovery that mitochondrial acyl-CoA producing enzymes are also delivered to the nucleus suggests that high concentrations of metabolites generated loc...
ORGANISM(S): Mus musculus (Mouse) 
2025-05-06 | PXD040979 | Pride

Beyond motor neuron degeneration, homozygous mutations in the survival motor neuron 1 (SMN1) gene cause multiorgan and metabolic defects in patients with spinal muscular atrophy (SMA). However, the precise biochemical features of these alterations and the age of onset in the brain and peripheral ...

2023-11-27 | MTBLS8784 | MetaboLights
Chromosomal instability (CIN) generates micronuclei, aberrant extranuclear structures that catalyze the acquisition of complex chromosomal rearrangements present in cancer. Micronuclei are characterized by persistent DNA damage and catastrophic nuclear envelope collapse, exposing DNA to the cytoplas...
ORGANISM(S): Homo sapiens (Human) 
2024-09-02 | PXD052675 | Pride
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