Publications by authors named "S Scaramuzza"

Article Synopsis
  • Hematopoietic Stem Cell (HSC) gene therapy can potentially provide long-lasting treatment for various genetic blood disorders, but its effects in different patients are not fully understood.
  • A study involving 53 patients with conditions like metachromatic leukodystrophy and β-thalassemia showed that the success of HSC gene therapy varies based on disease type, age, and extent of correction.
  • The research identified that while half of the treated patients had stem cells with broad lineage potential, the other half showed specific preferences for producing certain types of blood cells based on their underlying conditions, indicating that HSC function adapts to disease circumstances.
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With the advent of modern technologies for cryo-electron tomography (cryo-ET), high-quality tilt series are more rapidly acquired than processed and analyzed. Thus, a robust and fast-automated alignment for batch processing in cryo-ET is needed. While different software packages have made available several approaches for automated marker-based alignment of tilt series, manual user intervention remains necessary for many datasets, thus preventing high-throughput tomography.

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To ensure timely duplication of the entire eukaryotic genome, thousands of replication machineries (replisomes) act on genomic DNA at any time during S phase. In the final stages of this process, replisomes are unloaded from chromatin. Unloading is driven by polyubiquitylation of MCM7, a subunit of the terminated replicative helicase, and processed by p97/VCP segregase.

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β-Thalassemia and sickle cell disease are autosomal recessive disorders of red blood cells due to mutations in the adult β-globin gene, with a worldwide diffusion. The severe forms of hemoglobinopathies are fatal if untreated, and allogeneic bone marrow transplantation can be offered to a limited proportion of patients. The unmet clinical need and the disease incidence have promoted the development of new genetic therapies based on the engineering of autologous hematopoietic stem cells.

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Article Synopsis
  • Cell division depends on accurate DNA replication, and errors during this process can lead to serious health issues like cancer and premature aging.
  • TRAIP E3 ubiquitin ligase is crucial for maintaining genome integrity and cell survival, and its dysfunction is linked to conditions like primordial dwarfism.
  • Research using the auxin-induced degron system showed that when TRAIP is depleted, cells stop dividing during the S-phase, get stuck in the G2 phase, and eventually enter senescence due to DNA damage during transcription.
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