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Artículo
Histone H3E73Q and H4E53A mutations cause recombinogenic DNA damage
(Shared Science Publishers OG, 2020)
The stability and function of eukaryotic genomes is closely linked to histones and to chromatin structure. The state of the chromatin not only affects the probability of DNA to undergo damage but also DNA repair. DNA damage ...
Artículo
Crosstalk between chromatin structure, cohesin activity and transcription
(BMC (part of Springer Nature), 2019)
Background: A complex interplay between chromatin and topological machineries is critical for genome architec‑ ture and function. However, little is known about these reciprocal interactions, even for cohesin, despite its ...
Artículo
Dysfunction of the unfolded protein response increases neurodegeneration in aged rat hippocampus following proteasome inhibition
(Wiley-Blackwell, 2009)
Dysfunctions of the ubiquitin proteasome system (UPS) have been proposed to be involved in the aetiology and/or progression of several age-related neurodegenerative disorders. However, the mechanisms linking proteasome ...
Artículo
The DNA damage response acts as a safeguardagainst harmful DNA–RNA hybrids ofdifferent origins
(EMBO Press, 2019-07-24)
Despite playing physiological roles in specific situations, DNA–RNA hybrids threat genome integrity. To investigate how cells do counteract spontaneous DNA–RNA hybrids, here we screen an siRNA library covering 240 human ...
Artículo
Immunohistochemical assessment of Pax8 expression during pancreatic islet development and in human neuroendocrine tumors
(Springer Verlag, 2011)
The paired box transcription factor Pax8 is critical for development of the eye, thyroid gland as well as the urinary and reproductive organs. In adult, Pax8 overexpression is associated with kidney, ovarian and thyroid ...
Artículo
Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation
(Elsevier, 2018-11-16)
Retinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in EYS have been associated with autosomal recessive RP. The human iPS cell line, CABi002-A, derived from peripheral blood mononuclear cells ...
Artículo
Limiting glutamine utilization activates a GCN2/TRAIL-R2/Caspase-8 apoptotic pathway in glutamine-addicted tumor cells
(Springer Nature, 2022)
Oncogenic transformation leads to changes in glutamine metabolism that make transformed cells highly dependent on glutamine for anabolic growth and survival. Herein, we investigated the cell death mechanism activated in ...
Artículo
CENP-V is required for proper chromosome segregation through interaction with spindle microtubules in mouse oocytes
(Springer Nature, 2021)
Proper chromosome segregation is essential to avoid aneuploidy, yet this process fails with increasing age in mammalian oocytes. Here we report a role for the scarcely described protein CENP-V in oocyte spindle formation ...
Artículo
What causes an RNA-DNA hybrid to compromise genome integrity?
(Elsevier, 2019)
Transcription is a source of genome instability that stimulates mutation and recombination. Part of the damage produced by transcription is mediated by R-loops, non-B DNA structures that normally form by the re-annealing ...
Artículo
Manganese Redistribution by Calcium-stimulated Vesicle Trafficking Bypasses the Need for P-type ATPase Function
(American Society for Biochemistry and Molecular Biology, 2015)
Regulation of intracellular ion homeostasis is essential for eukaryotic cell physiology. An example is provided by loss of ATP2C1 function, which leads to skin ulceration, improper keratinocyte adhesion, and cancer formation ...