Publications by authors named "Simona Del Giudice"

The biosynthetic transport route that constitutes the secretory pathway plays a fundamental role in the cell, providing to the synthesis and transport of around one third of human proteins and most lipids. Signaling molecules within autoregulatory circuits on the intracellular membranes of the secretory pathway regulate these processes, especially at the level of the Golgi complex. Indeed, cancer cells can hijack several of these signaling molecules, and therefore also the underlying regulated processes, to bolster their growth or gain more aggressive phenotypes.

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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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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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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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