Search Results - "Bernini, Andrea"

Pharmacological Chaperones and Protein Conformational Diseases: Approaches of Computational Structural Biology by Grasso, Daniela, Galderisi, Silvia, Santucci, Annalisa, Bernini, Andrea

“…Whenever a protein fails to fold into its native structure, a profound detrimental effect is likely to occur, and a disease is often developed. Protein…”
Get full text

Structure-Function Relationship of Homogentisate 1,2-dioxygenase: Understanding the Genotype-Phenotype Correlations in the Rare Genetic Disease Alkaptonuria by Bernini, Andrea, Spiga, Ottavia, Santucci, Annalisa

“…Alkaptonuria (AKU), a rare genetic disorder, is characterized by the accumulation of homogentisic acid (HGA) in organs, which occurs because the homogentisate…”
Get more information

A molecular spectroscopy approach for the investigation of early phase ochronotic pigment development in Alkaptonuria by Bernini, Andrea, Petricci, Elena, Atrei, Andrea, Baratto, Maria Camilla, Manetti, Fabrizio, Santucci, Annalisa

“…Alkaptonuria (AKU), a rare genetic disorder, is characterized by the accumulation of homogentisic acid (HGA) in organs due to a deficiency in functional levels…”
Get full text

Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria by Grasso, Daniela, Geminiani, Michela, Galderisi, Silvia, Iacomelli, Gabriella, Peruzzi, Luana, Marzocchi, Barbara, Santucci, Annalisa, Bernini, Andrea

“…Alkaptonuria (AKU) is an ultra-rare metabolic disease caused by the accumulation of homogentisic acid (HGA), an intermediate product of phenylalanine and…”
Get full text

Phytochemical Composition, Anti-Inflammatory Property, and Anti-Atopic Effect of Chaetomorpha linum Extract by Frusciante, Luisa, Geminiani, Michela, Trezza, Alfonso, Olmastroni, Tommaso, Mastroeni, Pierfrancesco, Salvini, Laura, Lamponi, Stefania, Bernini, Andrea, Grasso, Daniela, Dreassi, Elena, Spiga, Ottavia, Santucci, Annalisa

“…Utilizing plant-based resources, particularly their by-products, aligns with sustainability principles and circular bioeconomy, contributing to environmental…”
Get full text

Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease by Spiga, Ottavia, Cicaloni, Vittoria, Fiorini, Cosimo, Trezza, Alfonso, Visibelli, Anna, Millucci, Lia, Bernardini, Giulia, Bernini, Andrea, Marzocchi, Barbara, Braconi, Daniela, Prischi, Filippo, Santucci, Annalisa

“…Alkaptonuria (AKU) is an ultra-rare autosomal recessive disease caused by a mutation in the homogentisate 1,2-dioxygenase (HGD) gene. One of the main obstacles…”
Get full text

Treatment of Medial Collateral Ligament Injuries of the Knee with Focused Extracorporeal Shockwave Therapy: A Case Report by Tognolo, Lucrezia, Coraci, Daniele, Bernini, Andrea, Masiero, Stefano

“…Medial collateral ligament (MCL) injuries are the most frequent ligamentous injuries of the knee. Focused extracorporeal shock wave therapy (f-ESWT) is…”
Get full text

Alteration of the Nucleotide Excision Repair (NER) Pathway in Soft Tissue Sarcoma by Pasqui, Adriano, Boddi, Anna, Campanacci, Domenico Andrea, Scoccianti, Guido, Bernini, Andrea, Grasso, Daniela, Gambale, Elisabetta, Scolari, Federico, Palchetti, Ilaria, Palomba, Annarita, Fancelli, Sara, Caliman, Enrico, Antonuzzo, Lorenzo, Pillozzi, Serena

“…Clinical responses to anticancer therapies in advanced soft tissue sarcoma (STS) are unluckily restricted to a small subgroup of patients. Much of the…”
Get full text

Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series by Cannarella, Rossella, Gusmano, Carmelo, Condorelli, Rosita A, Bernini, Andrea, Kaftalli, Jurgen, Maltese, Paolo Enrico, Paolacci, Stefano, Dautaj, Astrit, Marceddu, Giuseppe, Bertelli, Matteo, La Vignera, Sandro, Calogero, Aldo E

“…Congenital hypogonadotropic hypogonadism (cHH)/Kallmann syndrome (KS) is a rare genetic disorder with variable penetrance and a complex inheritance pattern…”
Get full text

Sarcopenia prevalence and association with nutritional status in cohort of elderly patients affected by musculoskeletal concerns: a real-life analysis by Maccarone, Maria Chiara, Coraci, Daniele, Bernini, Andrea, Sarandria, Nicola, Valente, Marta Rossella, Frigo, Anna Chiara, Dionyssiotis, Yannis, Masiero, Stefano

“…The progressive loss of skeletal muscle mass, strength, and function that frequently occurs as people get older is referred to as sarcopenia. Elderly…”
Get full text

A Computational Approach From Gene to Structure Analysis of the Human ABCA4 Transporter Involved in Genetic Retinal Diseases by Trezza, Alfonso, Bernini, Andrea, Langella, Andrea, Ascher, David B, Pires, Douglas E V, Sodi, Andrea, Passerini, Ilaria, Pelo, Elisabetta, Rizzo, Stanislao, Niccolai, Neri, Spiga, Ottavia

“…The aim of this article is to report the investigation of the structural features of ABCA4, a protein associated with a genetic retinal disease. A new database…”
Get full text

ApreciseKUre: an approach of Precision Medicine in a Rare Disease by Spiga, Ottavia, Cicaloni, Vittoria, Bernini, Andrea, Zatkova, Andrea, Santucci, Annalisa

“…Alkaptonuria (AKU; OMIM:203500) is a classic Mendelian genetic disorder described by Garrod already in 1902. It causes urine to turn black upon exposure to air…”
Get full text

Peptides and small molecules blocking the CXCR4/CXCL12 axis overcome bone marrow‑induced chemoresistance in acute leukemias by Pillozzi, Serena, Bernini, Andrea, Spiga, Ottavia, Lelli, Barbara, Petroni, Giulia, Bracci, Luisa, Niccolai, Neri, Arcangeli, Annarosa

“…Notable advances in treatment have been made and increases in the cure rates of pediatric leukemia have been achieved. However, the majority of children with…”
Get full text

Near-infrared quantum dots labelled with a tumor selective tetrabranched peptide for in vivo imaging by Brunetti, Jlenia, Riolo, Giulia, Gentile, Mariangela, Bernini, Andrea, Paccagnini, Eugenio, Falciani, Chiara, Lozzi, Luisa, Scali, Silvia, Depau, Lorenzo, Pini, Alessandro, Lupetti, Pietro, Bracci, Luisa

“…Near-infrared quantum dots (NIR QDs) are a new class of fluorescent labels with excellent bioimaging features, such as high fluorescence intensity, good…”
Get full text

Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants by Bonetti, Gabriele, Cozza, William, Bernini, Andrea, Kaftalli, Jurgen, Mareso, Chiara, Cristofoli, Francesca, Medori, Maria Chiara, Colombo, Leonardo, Martella, Salvatore, Staurenghi, Giovanni, Salvetti, Anna Paola, Falsini, Benedetto, Placidi, Giorgio, Attanasio, Marcella, Pertile, Grazia, Bengala, Mario, Bosello, Francesca, Petracca, Antonio, D’Esposito, Fabiana, Toschi, Benedetta, Lanzetta, Paolo, Ricci, Federico, Viola, Francesco, Marceddu, Giuseppe, Bertelli, Matteo

“…Sequencing of the low-complexity ORF15 exon of RPGR, a gene correlated with retinitis pigmentosa and cone dystrophy, is difficult to achieve with NGS and…”
Get full text

Toward a generalized computational workflow for exploiting transient pockets as new targets for small molecule stabilizers: Application to the homogentisate 1,2-dioxygenase mutants at the base of rare disease Alkaptonuria by Bernini, Andrea, Galderisi, Silvia, Spiga, Ottavia, Bernardini, Giulia, Niccolai, Neri, Manetti, Fabrizio, Santucci, Annalisa

“…[Display omitted] •A new approach to the treatment of Alkaptonuria is proposed by use of Pharmacological Chaperones (PCs).•Transient pockets at the surface of…”
Get full text

Unraveling Heparan Sulfate Proteoglycan Binding Motif for Cancer Cell Selectivity by Brunetti, Jlenia, Riolo, Giulia, Depau, Lorenzo, Mandarini, Elisabetta, Bernini, Andrea, Karousou, Evgenia, Passi, Alberto, Pini, Alessandro, Bracci, Luisa, Falciani, Chiara

“…Membrane heparan sulfate proteoglycans (HSPG) regulate cell proliferation, migration, and differentiation and are therefore considered key players in cancer…”
Get full text

Pharmacogenomics of soft tissue sarcomas: New horizons to understand efficacy and toxicity by Gambale, Elisabetta, Boddi, Anna, Pasqui, Adriano, Campanacci, Domenico Andrea, Scoccianti, Guido, Palchetti, Ilaria, Bernini, Andrea, Antonuzzo, Lorenzo, Pillozzi, Serena

“…•Clinical response to therapies is limited to a small subset of soft tissue sarcoma (STS) patients.•Genetic polymorphisms may influence drug response and…”
Get full text

Chip-Based and Wearable Tools for Isothermal Amplification and Electrochemical Analysis of Nucleic Acids by Patiti, Claudia, Sfragano, Patrick Severin, Laschi, Serena, Pillozzi, Serena, Boddi, Anna, Crociani, Olivia, Bernini, Andrea, Palchetti, Ilaria

“…The determination of nucleic acids has become an analytical diagnostic method with many applications in fields such as biomedical sciences, environmental…”
Get full text

A global approach for plantar fasciitis with extracorporeal shockwaves treatment by Giordani, Federico, Bernini, Andrea, Müller-Ehrenberg, Hannes, Stecco, Carla, Masiero, Stefano

“…Extracorporeal Shockwaves Treatment is considered an effective therapeutic option for plantar fasciitis, but the standard application in the medial insertion…”
Get full text