A5032479743- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- RNA Research and Splicing
- Radiomics and Machine Learning in Medical Imaging
- Blood disorders and treatments
- Childhood Cancer Survivors' Quality of Life
- Acute Lymphoblastic Leukemia research
- Silymarin and Mushroom Poisoning
- Pluripotent Stem Cells Research
- Hematopoietic Stem Cell Transplantation
- Medical Imaging Techniques and Applications
- Adrenal and Paraganglionic Tumors
- Immune Cell Function and Interaction
- Lymphatic System and Diseases
- ATP Synthase and ATPases Research
- Congenital Heart Disease Studies
- Retinoids in leukemia and cellular processes
- Immunodeficiency and Autoimmune Disorders
- Acute Myeloid Leukemia Research
- Adrenal Hormones and Disorders
- Ubiquitin and proteasome pathways
- Pain Mechanisms and Treatments
- Autoimmune and Inflammatory Disorders Research
- Pharmacological Effects of Natural Compounds
- Neurological diseases and metabolism
Istituti di Ricovero e Cura a Carattere Scientifico
2019-2023
IRCCS Istituto Auxologico Italiano
2019-2022
University of Milano-Bicocca
2015-2021
University of Milan
2020
University of Parma
2013
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are fatal neurodegenerative diseases characterized by the presence of neuropathological aggregates phosphorylated TDP-43 (P-TDP-43) protein. The RNA-binding protein participates also to cell stress response forming granules (SG) in cytoplasm temporarily arrest translation. hypothesis that pathology directly arises from SG has been proposed but is still under debate because only sub-lethal conditions have tested...
<b><i>Background:</i></b> Somatic mutations in the ubiquitin-specific protease 8 (USP8) gene have recently been shown to occur ACTH-secreting pituitary adenomas, thus calling attention ubiquitin system corticotrope adenomas. <b><i>Objectives:</i></b> Assess consequences of <i>USP8</i> and establish role on ACTH turnover human <b><i>Methods:</i></b> mutation status was established 126 Differences secretion...
Mechanisms underlying the resistance of acute lymphoblastic leukemia (ALL) blasts to l-asparaginase are still incompletely known. Here we demonstrate that human primary bone marrow mesenchymal stromal cells (MSCs) successfully adapt and markedly protect leukemic from enzyme-dependent cytotoxicity through an amino acid trade-off. ALL synthesize secrete glutamine, thus increasing extracellular glutamine availability for cells. In turn, MSCs use either synthesized synthetase (GS) or imported,...
The pathogenesis of amyotrophic lateral sclerosis (ALS), a lethal neurodegenerative disease, remains undisclosed. Mutations in ALS related genes have been identified, albeit the majority cases are unmutated. Clinical pathology suggests prion-like cell-to-cell diffusion disease possibly mediated by exosomes, small endocytic vesicles involved propagation RNA molecules and proteins. In this pilot study, we focused on exosomal microRNAs (miRNAs), key regulators many signaling pathways. We...
Abstract Shwachman‐Diamond syndrome (SDS) is a rare inherited recessive disease mainly caused by mutations in the Shwachman‐Bodian‐Diamond ( SBDS ) gene, which encodes for homonymous protein SBDS, whose function still remains to be fully established. SDS affects several organs causing bone marrow failure, exocrine pancreatic insufficiency, skeletal malformations, and cognitive disorders. About 15% of patients develop myelodysplastic (MDS) are at higher risk developing acute myeloid leukemia...
Shwachman-Diamond syndrome (SDS) is a rare multi-organ recessive disease mainly characterised by pancreatic insufficiency, skeletal defects, short stature and bone marrow failure (BMF). As in many other BMF syndromes, SDS patients are predisposed to develop number of haematopoietic malignancies, particularly myelodysplastic acute myeloid leukaemia. However, the mechanism cancer predisposition only partially understood. In light emerging role mesenchymal stromal cells (MSCs) regulation...
Abstract As for the majority of neurodegenerative diseases, pathological mechanisms amyotrophic lateral sclerosis (ALS) have been challenging to study due difficult access alive patients' cells. Induced pluripotent stem cells (iPSCs) offer a useful in vitro system modelling human diseases. iPSCs can be theoretically obtained by reprogramming any somatic tissue although fibroblasts (FB) remain most used However, peripheral blood (PB) may significant advantages. In order investigate whether...
Heterozygous mutations in the gene coding for progranulin (GRN) cause frontotemporal lobar degeneration (FTLD) while homozygous are linked to neuronal ceroidolipofuscinosis (NCL). While both FTLD/NCL pathological hallmarks were mostly investigated heterozygous GRN+/− brain tissue or induced pluripotent stem cell (iPSC)-derived neurons, data from GRN−/− condition scarce, being limited a postmortem single case. Indeed, is an extremely rare reported very few cases. Our aim was investigate...
Gastrointestinal graft-versus-host disease (GvHD) is a major cause of mortality and morbidity following allogeneic bone marrow transplantation (allo-BMT). Chemerin chemotactic protein that recruits leukocytes to inflamed tissues by interacting with ChemR23/CMKLR1, receptor expressed leukocytes, including macrophages. During acute GvHD, chemerin plasma levels were strongly increased in allo-BM-transplanted mice. The role the chemerin/CMKLR1 axis GvHD was investigated using Cmklr1-KO WT mice...
L‐Asparaginase (ASNase) is one of the cornerstones acute lymphoblastic leukaemia (ALL) treatment. Its antileukemic effect mainly relies on its ability to hydrolyse blood asparagine and glutamine. Asparagine depletion causes a severe nutritional stress in ALL blasts exhibiting low expression synthetase (ASNS), which cannot, therefore, synthesize de novo . Conversely, given role glutamine as obliged nitrogen donor for synthesis, glutaminolytic activity ASNase relevance therapy ASNS‐positive...
Abstract Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are fatal neurodegenerative diseases characterized by the presence of neuropathological aggregates phosphorylated TDP-43 (P-TDP-43). The RNA-binding protein is also a component stress granules (SG), cytoplasmic foci forming to arrest translation under sub-lethal conditions. Although commonly considered as distinct structures, link between SG pathological inclusions may occur despite evidence that pathology...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
Abstract Silibinin, a milk thistle extract with known hepatoprotective effects, has recently been shown to act upon tumoral corticotropes and revert the Cushingoid phenotype in an allograft mouse model (Riebold et al 2015). Silbinin is inhibit HSP90 -a chaperone glucocorticoid receptor- thereby restoring sensitivity negative feedback corticotropes. Aim of present study was assess effect silibinin on ACTH synthesis secretion by human corticotrope adenomas vitro. Methods: Eight ACTH-secreting...