A5054726152- Histone Deacetylase Inhibitors Research
- Diabetes and associated disorders
- Diabetes Management and Research
- Kidney Stones and Urolithiasis Treatments
- Pancreatic function and diabetes
- Chronic Kidney Disease and Diabetes
- Renal Diseases and Glomerulopathies
- Gout, Hyperuricemia, Uric Acid
- Ubiquitin and proteasome pathways
- Autism Spectrum Disorder Research
- Protein Degradation and Inhibitors
- Genetic Associations and Epidemiology
- Multiple Myeloma Research and Treatments
- Cancer, Lipids, and Metabolism
- Pediatric Urology and Nephrology Studies
- Genetic diversity and population structure
- Congenital heart defects research
- Birth, Development, and Health
- Genetics and Neurodevelopmental Disorders
- Advanced biosensing and bioanalysis techniques
- Autophagy in Disease and Therapy
- Immune cells in cancer
- Pulsars and Gravitational Waves Research
- Microbial metabolism and enzyme function
- Adolescent and Pediatric Healthcare
Vita-Salute San Raffaele University
2017-2024
IRCCS Ospedale San Raffaele
2024
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2017
San Raffaele University of Rome
2017
Istituti di Ricovero e Cura a Carattere Scientifico
2017
Dulbecco Telethon Institute
2010-2013
Mario Negri Institute for Pharmacological Research
2009
Uromodulin-associated kidney diseases (UAKD) are autosomal-dominant disorders characterized by alteration of urinary concentrating ability, tubulo-interstitial fibrosis, hyperuricaemia and renal cysts at the cortico-medullary junction. UAKD caused mutations in UMOD , gene encoding uromodulin. Although uromodulin is most abundant protein secreted urine, its physiological role remains elusive. Several vitro studies demonstrated that lead to endoplasmic reticulum (ER) retention mutant protein,...
Abstract Intellectual disability ( ID ) and autism spectrum disorders ASD s) are complex neuropsychiatric conditions, with overlapping clinical boundaries in many patients. We identified a novel intragenic deletion of maternal origin two siblings mild epilepsy the CADPS 2 gene, encoding for synaptic protein involved neurotrophin release interaction dopamine receptor type (D2 DR ). Mutation screening 223 additional patients (187 36 missense change disrupting 2/D2 interaction. allelic...
Abstract The genomic variation of the Italian peninsula populations is currently under characterised: only whole-genome reference represented by Tuscans from 1000 Genome Project. To address this issue, we sequenced a total 947 samples three different geographical areas. First, defined new Reference Panel (IGRP1.0) for imputation, which improved imputation accuracy, especially rare variants, and tested it GWAS analysis on red blood traits. Furthermore, extended catalogue genetic investigating...
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an inherited disorder that causes progressive damage and renal failure. Mutations in the UMOD gene, encoding uromodulin, lead to ADTKD-UMOD related. Uromodulin a GPI-anchored protein exclusively produced by epithelial cells of thick ascending limb Henle's loop. It released tubular lumen after proteolytic cleavage represents most abundant human urine physiological condition. We previously generated characterized transgenic mouse...
Abstract Bone destruction, a major source of morbidity, is mediated by heightened differentiation and activity osteoclasts (OC), highly specialized multinucleated myeloid cells endowed with unique bone-resorptive capacity. The molecular mechanisms regulating OC in the bone marrow are still partly elusive. Here, we aimed to identify new regulatory circuits actionable targets comprehensive proteomic characterization OCgenesis from mouse monocytes, adopting two parallel unbiased comparative...
Transplantation of pancreatic islets has been extensively investigated as a strategy for glycemic control in experimental animals and patients with diabetes. We whether islet transplantation allows us to obtain adequate function during glucose stimulation using continuous monitoring system (CGMS) the rat.We four groups eight rats each: healthy (controls), diabetes, diabetes transplanted microencapsulated peritoneal cavity or free under kidney capsule. Syngeneic were isolated from Lewis rats....
Multiple myeloma grows by establishing multiple interactions with bone marrow cells. These include expansion of myeloid-derived suppressor cells, which drive immunoevasion via mechanisms that arginase-1-driven depletion L-arginine, thus indirectly promoting cell survival and tumor progression. The peculiar biology malignant plasma cells postulates arginine may benefit their fitness also directly, e.g., engaging the integrated stress response, or stimulating autophagy through mTORC1...
Fast radio bursts (FRBs) are millisecond transients observed at cosmological distances. The nature of their progenitors is still a matter debate, although magnetars invoked by most models. proposed FRB-magnetar connection was strengthened the discovery an FRB-like event from Galactic magnetar SGR J1935+2154. In this work, we aim to investigate how prevalent such as J1935+2154 within FRB progenitors. We carried out search in sample seven nearby (< 12 Mpc) galaxies with Northern Cross...