A5079565943- Connective tissue disorders research
- Bone and Dental Protein Studies
- Bone health and treatments
- Cell Adhesion Molecules Research
- Bone health and osteoporosis research
- Bone Metabolism and Diseases
- Protease and Inhibitor Mechanisms
- Lysosomal Storage Disorders Research
- Bone fractures and treatments
- MicroRNA in disease regulation
- Osteoarthritis Treatment and Mechanisms
- Adipose Tissue and Metabolism
- Circular RNAs in diseases
- RNA Interference and Gene Delivery
- Bacteriophages and microbial interactions
- Ubiquitin and proteasome pathways
- Bone and Joint Diseases
- RNA and protein synthesis mechanisms
- Dermatological and Skeletal Disorders
- Cancer-related molecular mechanisms research
- Cancer-related gene regulation
- RNA Research and Splicing
- Vitamin D Research Studies
- Autophagy in Disease and Therapy
- Carbohydrate Chemistry and Synthesis
University of Verona
2011-2023
Creative Research Enterprises (United States)
2016
Laboratoire de Recherche Scientifique
1994
Hôpital des Enfants
1994
Centre National de la Recherche Scientifique
1994
Université Paris Cité
1994
University of Pavia
1977-1991
National Research Council
1988
National Research Council
1987
Istituto di Genetica Molecolare
1979-1984
Abstract BK virus (BKV) DNA was detected by Southern blot hybridization in 19 out of 74 (25.6%) human brain tumors and 4 9 (44.4%) pancreatic islets. BKV free, an episomal state generally a low copy number (0.2 to 2 genome equivalents per cell). Only occasional contained 10 20 copies cell. Viral sequences integrated into cellular were not detected. A expressed BKV‐specific RNA T antigen. By transfection total tumor embryonic fibroblasts, viruses with the biological antigenic properties...
Physical exercise is known to promote beneficial effects on overall health, counteracting risks related degenerative diseases. MicroRNAs (miRNAs), short non-coding RNAs affecting the expression of a cell’s transcriptome, can be modulated by different stimuli. Yet, molecular osteogenic differentiation triggered miRNAs upon physical are not completely understood. In this study, we recruited 20 male amateur runners participating in half marathon. Runners’ sera, collected before (PRE RUN) and...
Abstract Osteogenesis imperfecta (OI) is a clinically heterogeneous heritable connective tissue disorder, characterized by low bone mass and reduced strength, which result in susceptibility to fracture deformities. In most cases it caused dominant mutations type I collagen genes, COL1A1 COL1A2. Recessive forms, collectively account for approximately 5% of osteogenesis detected North America Europe, are instead various genes coding proteins involved posttranslational modifications, folding,...
ABSTRACT Osteogenesis imperfecta (OI) types VII, VIII and IX, caused by recessive mutations in cartilage-associated protein (CRTAP), prolyl-3-hydroxylase 1 (P3H1) cyclophilin B (PPIB), respectively, are characterized the synthesis of overmodified collagen. The genes encode for components endoplasmic reticulum (ER) complex responsible 3-hydroxylation specific proline residues type I Our study dissects effects proteins on cellular homeostasis, using primary fibroblasts from seven OI patients....
Lack of physical exercise is considered an important risk factor for chronic diseases. On the contrary, reduces morbidity rates obesity, diabetes, bone disease, and hypertension. In order to gain novel molecular cellular clues, we analyzed effects on differentiation mesenchymal circulating progenitor cells (M-CPCs) obtained from runners. We also investigated autophagy telomerase-related gene expression evaluate involvement specific functions in process. performed analyses M-CPCs, by a...
Mutations in COL1A1 and COL1A2 genes, encoding the α1 α2 chain of type I collagen, respectively, are responsible for vast majority cases osteogenesis imperfecta (OI) (95% patients with a definite clinical diagnosis). We have investigated 22 OI patients, representing heterogeneous phenotypic range, at biochemical molecular level. A causal mutation either collagen gene was identified 20 them: no recurrent found unrelated subjects; 15 out mutations had not been reported previously. In two we...
A bstract : Osteoporosis and osteopenia are frequent complications of thalassemia major (TM) intermedia (TI). was found in 23/25 patients with TI 115/239 TM. In TM, no association specific polymorphisms candidate genes (vitamin D receptor, estrogen calcitonin collagen type 1 alpha 1). female TM strongly associated primary amenorrhea ( P < .0001 ), while male hypogonadism not significantly related to bone mineral density (BMD) = ). Low BMD also cardiomiopathy .01 diabetes mellitus chronic...
Valli M, Barnes AM, Gallanti A, Cabral WA, Viglio S, Weis MA, Makareeva E, Eyre D, Leikin Antoniazzi F, Marini JC, Mottes M. Deficiency of CRTAP in non‐lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix. any component the ER‐resident prolyl 3‐hydroxylation complex causes (OI). The modifies α 1(I)Pro986 residue and contains cartilage‐associated protein (CRTAP), 3‐hydroxylase 1 (P3H1) cyclophilin B (CyPB). Fibroblasts normally secrete about 10% CRTAP. Most...
The mortality rate for malignant melanoma (MM) is very high, since it highly invasive and resistant to chemotherapeutic treatments. modulation of some transcription factors affects cellular processes in MM. In particular, a higher expression the osteogenic master gene RUNX2 has been reported cells, compared normal melanocytes. By analyzing public databases recurrent genetic epigenetic modifications melanoma, we found that most common alteration exists upregulation is, followed by genomic...
Cultured fibroblasts from a patient affected with moderate form of osteogenesis imperfecta were defective for the synthesis type I collagen molecules; about half alpha 1(I) chains contained cysteine residue in triple helical domain and disulfide link formed when two mutant incorporated into heterotrimer. The proband's parents clinically biochemically normal. was localized within peptide 1(I)CB8 between residues 170 200 using chemical procedure 2-nitro-5-thiocyanobenzoic acid (Tenni, R.,...
Bisphosphonates are well known inhibitors of osteoclast activity and thus may be employed to influence osteoblast activity. The present study was designed evaluate the in vivo effects zoledronic acid (ZA) on proliferation osteoblastic commitment mesenchymal stem cells (MSC) osteoporotic patients. We studied 22 postmenopausal Densitometric, biochemical, cellular molecular data were collected before as after 6 12 months ZA treatment. Peripheral blood MSC-like quantified by colony-forming unit...