A5059962048- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Genetic Neurodegenerative Diseases
- Autophagy in Disease and Therapy
- Endoplasmic Reticulum Stress and Disease
- Estrogen and related hormone effects
- Muscle Physiology and Disorders
- Hormonal and reproductive studies
- Parkinson's Disease Mechanisms and Treatments
- Heat shock proteins research
- Prostate Cancer Treatment and Research
- Sexual Differentiation and Disorders
- Hormonal Regulation and Hypertension
- Ubiquitin and proteasome pathways
- Mitochondrial Function and Pathology
- Neurological diseases and metabolism
- RNA Research and Splicing
- Stress Responses and Cortisol
- Hypothalamic control of reproductive hormones
- Cellular transport and secretion
- Neuroscience and Neuropharmacology Research
- Cardiomyopathy and Myosin Studies
- biodegradable polymer synthesis and properties
- Microtubule and mitosis dynamics
- Hereditary Neurological Disorders
University of Milan
2016-2025
Azienda Sanitaria Universitaria Integrata di Trieste
2021-2024
University of Florence
2010-2020
University of Trieste
2017-2019
University of Rome Tor Vergata
2017
Istituto Nazionale di Fisica Nucleare, Sezione di Milano
2013-2014
Humanitas University
2011
Institute of Endocrinology
2004-2007
European Institute of Oncology
2006
University of Illinois Urbana-Champaign
2005
Macroautophagy/autophagy, a defense mechanism against aberrant stresses, in neurons counteracts aggregate-prone misfolded protein toxicity. Autophagy induction might be beneficial neurodegenerative diseases (NDs). The natural compound trehalose promotes autophagy via TFEB (transcription factor EB), ameliorating disease phenotype multiple ND models, but its is still obscure. We demonstrated that regulates by inducing rapid and transient lysosomal enlargement membrane permeabilization (LMP)....
Several neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), are characterized by the presence of misfolded proteins, thought to trigger neurotoxicity. Some familial forms ALS (fALS), clinically indistinguishable from sporadic (sALS), linked superoxide dismutase 1 (SOD1) gene mutations. It has been shown that mutant SOD1 misfolds, insoluble aggregates and impairs proteasome. Using transgenic G93A-SOD1 mice, we found spinal cord motor neurons, accumulating also...
Each protein must be synthesized with the correct amino acid sequence, folded into its native structure, and transported to a relevant subcellular location complex. If any of these steps fail, cell has capacity break down aberrant proteins maintain homeostasis (also called proteostasis). All cells possess set well-characterized quality control systems minimize misfolding damage it might cause. Autophagy, conserved pathway for degradation long-lived proteins, aggregates, damaged organelles,...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease caused by motoneuron loss. Some familial cases (fALS) are linked to mutations of superoxide dismutase type-1 (SOD1), an antioxidant enzyme whose activity preserved in most mutant forms. Owing the similarities sporadic and fALS forms, SOD1 animal cellular models useful tool study disease. In transgenic mice expressing either wild-type (wt) human or G93A-SOD1, we found that wtSOD1 was present cytoplasm nuclei motoneurons,...
Stress granules (SGs) are mRNA-protein aggregates induced during stress, which accumulate in many neurodegenerative diseases. Previously, the autophagy-lysosome pathway and valosin-containing protein (VCP), key players of quality control (PQC), were shown to regulate SG degradation. This is consistent with idea that PQC may survey and/or assist dynamics. However, despite these observations, it currently unknown whether actively participates assembly. Here, we describe inhibition autophagy,...
Eukaryotic cells use autophagy and the ubiquitin–proteasome system as their major protein degradation pathways. Upon proteasomal impairment, switch to ensure proper clearance of clients (the proteasome-to-autophagy switch). The HSPA8 HSPA1A cochaperone BAG3 has been suggested be involved in this switch. However, at present it is still unknown whether what extent can indeed reroute autophagosomal pathway. Here, we show that induces sequestration ubiquitinated into cytoplasmic puncta colabeled...
Amyotrophic Lateral Sclerosis (ALS) is a progressive adult-onset neurodegenerative disease, that affects cortical and spinal motor neurons, it considered proteinopathy, in which misfolded proteins (SOD1, TDP-43 FUS) may accumulate interfere with neuronal functions eventually leading to cell death. These can be released from cells transported the body fluids by extracellular vesicles (EVs). EVs are spherical vesicles, classified mainly microvesicles (MVs) exosomes (EXOs) based on their...
Abstract Prostate cancer (PC) is one of the leading causes death in males. Available treatments often lead to appearance chemoresistant foci and metastases, with mechanisms still partially unknown. Within tumour mass, autophagy may promote cell survival by enhancing cells tolerability different stresses, like hypoxia, starvation or those triggered chemotherapic agents. Because its connection apoptotic pathways, has been differentially implicated, either as prodeath prosurvival factor, more...
Amyotrophic lateral sclerosis (ALS) is a lethal disease characterized by motor neuron degeneration and associated with aggregation of nuclear RNA-binding proteins (RBPs), including FUS. How FUS neurodegeneration are prevented in healthy neurons remain critically unanswered questions. Here, we use combination ALS patient autopsy tissue induced pluripotent stem cell-derived to study the effects mutations on RBP homeostasis. We show that FUS' tendency aggregate normally buffered interacting...
Abstract Neurodegenerative diseases (NDs) are often associated with the presence of misfolded protein inclusions. The chaperone HSPB8 is upregulated in mice, human brain and muscle structures affected during NDs progression. exerts a potent pro-degradative activity on several proteins responsible for familial forms. Here, we demonstrated that also counteracts accumulation aberrantly localized forms TDP-43 its 25 KDa fragment involved most sporadic cases Amyotrophic Lateral Sclerosis (sALS)...
Distal hereditary motor neuropathies (dHMNs) are clinically and genetically heterogeneous neurological conditions characterized by degeneration of the lower neurons. So far, 18 dHMN genes have been identified, however, about 80% cases remain without a molecular diagnosis. By combination autozygosity mapping, identity-by-descent segment detection whole-exome sequencing approaches, we identified two novel homozygous mutations in SIGMAR1 gene (p.E138Q p.E150K) distinct Italian families affected...
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two neurodegenerative diseases in which similar pathogenic mechanisms involved. Both associate to the high propensity of specific misfolded proteins, like TDP-43 or FUS, mislocalize aggregate. This is partly due their intrinsic biophysical properties as a consequence failure neuronal protein quality control (PQC) system. Several familial ALS/FTD cases linked an expansion repeated G4C2 hexanucleotide sequence present...
Context: An increasing body of evidence suggests that testosterone may exert beneficial effects on the development atherosclerosis. It was suggested act after conversion into estradiol and activation estrogen receptors; however, a direct role androgens vascular wall has been proposed. Objective: We investigated dihydrotestosterone proinflammatory response observed in human endothelial cells. Design: Human cells isolated from umbilical cords were incubated with lipopolysaccharide or TNFα...
BACKGROUND Atherosclerotic coronary artery disease, complicated by acute thrombosis, is the usual cause of sudden death in adults. This study addresses pathology arteries young (< or = 35 years old). METHODS AND RESULTS Among 200 consecutive cases youth Veneto region Italy, 37 (33 men and 4 women, age 18 to years; mean, 29.4 years) showed obstructive atherosclerotic disease absence other cardiac pathological conditions causes death. No patient had previous angina pectoris myocardial...
Abstract Prostate cancer growth depends, in its earlier stages, on androgens and is usually pharmacologically modulated with androgen blockade. However, androgen-ablation therapy may generate androgen-independent prostate cancer, often characterized by an increased invasiveness. We have found that the 5α-reduced testosterone derivative, dihydrotestosterone (the most potent natural androgen) inhibits cell migration receptor–independent mechanism. shown metabolite 5α-androstane-3β,17β-diol...
Journal Article Right ventricular cardiomyopathy: Is there evidence of an inflammatory aetiology? Get access G. Thiene, Thiene Departments Pathology and Cardiology, University Padua Medical SchoolPadua, Italy Address for reprints. Gactano M.D. Istituto di Anatomia Patologica, Via A. Gabelli 61, 35121 Padova, Search other works by this author on: Oxford Academic PubMed Google Scholar D. Corrado, Corrado Nava, Nava L. Rossi, Rossi Poletti, Poletti M. Boffa, Boffa Daliento, Daliento N. Pennelli...