Publications by authors named "Mattia La Torre"

Telomeres are pivotal determinants of cell stemness, organismal aging, and lifespan. Herein, we examined similarities in telomeres of Arabidopsis thaliana, mice, and humans. We report the common traits, which include their composition in multimers of TTAGGG sequences and their protection by specialized proteins.

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The endosomal sorting complex required for transport (ESCRT) machinery is composed of an articulated architecture of proteins that assemble at multiple cellular sites. The ESCRT machinery is involved in pathways that are pivotal for the physiology of the cell, including vesicle transport, cell division, and membrane repair. The subunits of the ESCRT I complex are mainly responsible for anchoring the machinery to the action site.

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Article Synopsis
  • DNA damage is identified as a significant contributor to heart disease, particularly involving cardiomyocytes and smooth muscle cells, though the details are not fully understood.
  • Research focused on a factor called Ft1 in mice and AKTIP in humans, revealing that its depletion leads to telomere instability and DNA damage, impacting heart health.
  • Two mouse models with varying Ft1 depletion showed that both developed cardiac issues like hypertrophy and fibrosis, but the smooth muscle-targeted model exhibited milder, age-exacerbated symptoms, suggesting Ft1 deficiency is a key factor in cardiac disease progression.
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Background: Lamins, key nuclear lamina components, have been proposed as candidate risk biomarkers in different types of cancer but their accuracy is still debated. AKTIP is a telomeric protein with the property of being enriched at the nuclear lamina. AKTIP has similarity with the tumor susceptibility gene TSG101.

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Membrane-enclosed organelle compartmentalization is not the only way by which cell processes are spatially organized. Phase separation is emerging as a new driver in the organization of membrane-less compartments and biological processes. Liquid-liquid phase separation has been indicated as a new way to control the kinetics of molecular reactions and is based on weak multivalent interactions affecting the stoichiometry of the molecules involved.

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To complete mitosis, the bridge that links the two daughter cells needs to be cleaved. This step is carried out by the endosomal sorting complex required for transport (ESCRT) machinery. AKTIP, a protein discovered to be associated with telomeres and the nuclear membrane in interphase cells, shares sequence similarities with the ESCRT I component TSG101.

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Unlabelled: The nuclear envelope compartmentalizes chromatin in eukaryotic cells. The main nuclear envelope components are lamins that associate with a panoply of factors, including the LEM domain proteins. The nuclear envelope of mammalian cells opens up during cell division.

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Article Synopsis
  • Fibrous dysplasia (FD) is a bone disease caused by mutations in the GNAS gene that lead to excess production of the signaling molecule cAMP, affecting the development of skeletal stem/progenitor cells.
  • The mutation alters these cells' ability to differentiate into bone and fat cells, resulting in disorganized bone formation and changes in processes like blood vessel development and immune response.
  • A comparative analysis with craniofacial FD samples revealed consistent changes, such as increased production of specific proteins and factors related to fat metabolism, highlighting the complex impacts of the mutation on the skeletal system.
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Epilepsy is a complex clinical condition characterized by repeated spontaneous seizures. Seizures have been linked to multiple drivers including DNA damage accumulation. Investigation of epilepsy physiopathology in humans imposes ethical and practical limitations, for this reason model systems are mostly preferred.

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Growing evidence shows that improper intake of vitamin B6 increases cancer risk and several studies indicate that diabetic patients have a higher risk of developing tumors. We previously demonstrated that in Drosophila the deficiency of Pyridoxal 5' phosphate (PLP), the active form of vitamin B6, causes chromosome aberrations (CABs), one of cancer prerequisites, and increases hemolymph glucose content. Starting from these data we asked if it was possible to provide a link between the aforementioned studies.

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Article Synopsis
  • - Progeroid syndromes, like Hutchinson Gilford Progeria Syndrome (HGPS), arise from mutations in lamin A or related proteins, serving as tools to study the causes of aging and premature aging.
  • - Research indicates that lamins are crucial for various DNA functions, including replication, repair, and chromatin organization, which ties them to the aging process.
  • - The similarities between progeroid laminopathies and other genetic mutations affecting DNA function suggest a linked relationship between DNA and lamins in the aging process.
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Human AKTIP and mouse Ft1 are orthologous ubiquitin E2 variant proteins involved in telomere maintenance and DNA replication. AKTIP also interacts with A- and B-type lamins. These features suggest that Ft1 may be implicated in aging regulatory pathways.

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AKTIP is a shelterin-interacting protein required for replication of telomeric DNA. Here, we show that AKTIP biochemically interacts with A- and B-type lamins and affects lamin A, but not lamin C or B, expression. In interphase cells, AKTIP localizes at the nuclear rim and in discrete regions of the nucleoplasm just like lamins.

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Chromosome ends are complex structures, which require a panel of factors for their elongation, replication, and protection. We describe here the mechanics of mammalian telomeres, dynamics and maintainance in relation to lamins. Multiple biochemical connections, including association of telomeres to the nuclear envelope and matrix, of telomeric proteins to lamins, and of lamin-associated proteins to chromosome ends, underline the interplay between lamins and telomeres.

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Brain gene transfer using viral vectors will likely become a therapeutic option for several disorders. Helper-dependent (HD) canine adenovirus type 2 vectors (CAV-2) are well suited for this goal. These vectors are poorly immunogenic, efficiently transduce neurons, are retrogradely transported to afferent structures in the brain and lead to long-term transgene expression.

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Telomeres are nucleoprotein complexes that protect the ends of linear chromosomes from incomplete replication, degradation and detection as DNA breaks. Mammalian telomeres are protected by shelterin, a multiprotein complex that binds the TTAGGG telomeric repeats and recruits a series of additional factors that are essential for telomere function. Although many shelterin-associated proteins have been so far identified, the inventory of shelterin-interacting factors required for telomere maintenance is still largely incomplete.

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