Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 16 of 16 for “"Progeria"”.
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The Convergence of Accelerated and Physiological Vascular Ageing: A Multi-Omic Analysis of 2D and 3D in vitro models of Progeria
… accelerated ageing disease, Hutchinson Gilford Progeria Syndrome (HGPS), provide an indefinite source of human cells which recapitulate several hallmarks of ageing. Furthermore, the cardiovascular pathology of HGPS closely resembles that of elderly individuals, with patients showing severe …
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Lessons from a rare disease
Progeria is a genetic aging disease of childhood affecting an estimated one in four to eight million births. Children with progeria experience a range of developmental disorders and aging-like symptoms, including wrinkled and discolored skin, stunted growth, visible veins, fat loss, hair loss, bone …
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Analysis of the immune function and its relevance in mouse models of premature aging
… en dos modelos murinos del Síndrome de Progeria de Hutchinson-Gilford (HGPS), LmnaG609G/G609G y Zmpste24-/-, con el objetivo de identificar nuevos factores que promueven el envejecimiento prematuro y su similitud con el envejecimiento fisiológico. Para este fin, realizamos un análisis …
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A New Pathway Responsible For 53BP1 Loss in Breast Cancer and Laminopathies
… is responsible for genomic instability in progeria and other laminopathies.</p><p>We found that CTSL-mediated degradation of 53BP1 is activated upon loss of BRCA1, rescuing homologous recombination: HR) and proliferation defects. Inhibiting CTSL using CTSL inhibitors or vitamin D treatment …
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Mechano-sensitivity of nuclear lamin proteins in endothelial cells
… many similarities between Hutchinson Gilford Progeria Syndrome (HGPS) cells and aging cells, implicating dysfunctions of lamin A/C in aging process and atherosclerosis, as HGPS is caused by a mutated form of lamin A/C. Blood flow in arteries is generating shear stress that is mostly applied on …
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The Application of a Statistical Model Investigating Reactive Oxygen Species in Premature Ageing Syndromes
The premature ageing syndromes Hutchison-Gilford Progeria Syndrome (HGPS) and Restrictive Dermopathy (RD) are rare genetic disorders that result in greatly accelerated ageing. RD is neonatal fatal, whereas children suffering from HGPS age approximately 8 times faster than normal individuals and die …
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Neuronal regulation of haematopoietic stem cell ageing and age-related blood disorders through the microenvironment
… ageing is observed in Hutchinson-Gilford progeria syndrome (HGPS). Chronic treatment of β3-AR agonist partially rejuvenates premature haematopoietic ageing in HGPS and restores exacerbated megakaryopoiesis in myeloproliferative neoplasms (MPNs). In summary, these results suggest that HSC …
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Functional relevance of mitochondrial proteases in metabolism and cancer
… tratamiento de enfermedades devastadoras como la progeria de Hutchinson-Gilford
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DNA repair and sister chromatid exchange
… Several accelerated aging syndromes, such as progeria, show highly elevated levels of SCE within telomeric regions. The role of DNA repair in SCE regulation and formation is also under investigation. While it has been shown that at least one of the DNA repair pathways, homologous recombination …
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1, Structural and Functional Studies of Human Replication Protein A; 2 DNA Damage Responses and DNA Repair Defects in Laminopathy-Based Premature Aging.
… in premature aging. In Hutchinson-Gilford progeria syndrome (HGPS) and restrictive dermopathy (RD), premature aging is caused by defective maturation of lamin A and linked to accumulation of DNA double-strand breaks (DSBs). However, how lamin A dysfunction leads to genome instability and …
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Structural and mechanical properties of intermediate filaments under extreme conditions and disease
… the molecular mechanism of Hutchinson-Gilford progeria syndrome, a premature aging disease. We find that the mutated domain tail domain is more compact and stable than the normal one. This altered structure and stability may enhance the association of intermediate filaments with the nuclear …
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Single-Objective Tilted Light Sheet Illumination with Exchange-PAINT and Deep Learning for Fast, Accurate, and Precise 3D Single-Molecule Super-Resolution Imaging in Mammalian Cells
… and chromatin dynamics in Hutchinson-Gilford Progeria Syndrome (HGPS), a disorder caused by a mutation in the LMNA gene.
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Functional gene analysis in cultured vertebrate cells using siRNA mediated gene silencing
… welche indirekt mit dem Hutchinson Gilford Progeria Syndrom (HGPS) in Verbindung steht, das humane Protein Astrin, sowie Proteine der Kinetochore (scc1, smc1, smc3, securin und separase) und Kinesin verwandte Motorproteine (MCAK, TPX2, HSET, KIA0622).Die Zinkfinger Metallprotease prozessiert …
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Novel functions of N-acetyltransferase 10 (NAT10) in DNA repair and replication with potential implications for premature ageing syndromes
Hutchinson-Gilford Progeria Syndrome (HGPS) is an invariably fatal disease with a range of diverse symptoms that are normally associated with those of advanced age. In recent decades, clinicians and scientists together have made great progress in deriving the mechanisms of disease initiation and …
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Investigating the protein targets of the neuroprotective E3 ligase, CHIP
… dementia with Lewy bodies, and the severe progeria and proteotoxic phenotype seen in CHIP KO mice support its neuroprotective effects, but the underpinning molecular mechanisms remain largely unknown and understudied. This project aimed to identify the protein targets of CHIP in a neuronal …
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Prelamin A Influences a Program of Gene Expression In Regulation of Cell Cycle Control
… accelerated aging phenotypes in diseases called progerias. Recent advances demonstrate LA regulatory functions include cell signaling, cell cycle regulation, transcription, chromatin organization, viral egress, and DNA damage repair. Amidst the flurry of fascinating research, only recently have …