Publications by authors named "I Piccolo"
The maintenance of genome integrity is ensured by proper chromosome inheritance during mitotic and meiotic cell divisions. The chromosomal counterpart responsible for chromosome segregation to daughter cells is the centromere, at which the spindle apparatus attaches through the kinetochore. Although all mammalian centromeres are primarily composed of megabase-long repetitive sequences, satellite-free human neocentromeres have been described.
View Article and Find Full Text PDFBackground: Charcot-Marie-Tooth disease (CMT) type 4B3 (CMT4B3) is a rare form of genetic neuropathy associated with variants in the MTMR5/SBF1 gene. MTMR5/SBF1 is a pseudophosphatase predicted to regulate endo-lysosomal trafficking in tandem with other MTMRs. Although almost ubiquitously expressed, pathogenic variants primarily impact on the peripheral nervous system, corroborating the involvement of MTMR5/SBF1 and its molecular partners in Schwann cells-mediated myelinization.
View Article and Find Full Text PDFArticle Synopsis
- The study presents a detailed bonobo genome assembly created using a comprehensive genomics approach, resulting in over 98% of the genes being fully annotated and closing 99% of the sequencing gaps.
- Researchers compared the bonobo genome with other great apes and identified more than 5,569 structural variants that differentiate bonobos from chimpanzees, focusing on evolutionary changes in genes over the past few million years.
- The analysis also reveals that about 5.1% of the human genome is more closely related to chimpanzees or bonobos, highlighting complex patterns of genetic sorting and clustering that may influence evolutionary outcomes.
Background: A retained surgical item in patients (gossypiboma) is a persisting problem, despite consistent improvements and existing guidelines in counting instruments and sponges. Previous experiences with radiofrequency identification technology (RFID) tracking sponges show that it could represent an innovation, in order to reduce the criticism and increase the effectiveness during surgical procedures. We present an automated system that allows reduction of errors and improves safety in the operating room.
View Article and Find Full Text PDFObjectives: We explored the role of oxidative stress and inflammatory molecules as potential Parkinson (PD) biomarkers and correlated biological with non-motor abnormalities (olfactory impairment and dysautonomia), in patients with idiopathic REM behavior disorder (iRBD) (prodromal PD) and established PD.
Methods: We recruited 11 iRBD and 15 patients with idiopathic PD (Hohen&Yahr 1-3, on L-DOPA and dopamine agonists combination therapy) and 12 age- and sex-matched controls (CTRL). We measured total olfactory score (TOS), autonomic function [deep breathing (DB), lying to standing (LS) and Valsalva manoeuvre (VM) ratios], blood reduced glutathione (Br-GSH), oxidative stress and inflammatory markers (neopterin).