Sfoglia per Autore
Uncovering proteomic and biochemical alterations in plasma from Lesch–Nyhan disease patients
2026-01-01 Javed, Sundas; Braconi, Daniela; Nadwa, Haidara; Paffetti, Alessandro; Jacomelli, Gabriella; Micheli, Vanna; Marzocchi, Barbara; Santucci, Annalisa; Bernardini, Giulia
A Comprehensive In Vitro and In Silico Approach for Targeting 4-Hydroxyphenyl Pyruvate Dioxygenase: Towards New Therapeutics for Alkaptonuria
2025-01-01 Bernardini, G.; Trezza, A.; Petricci, E.; Romagnoli, G.; Zambardino, D.; Manetti, F.; Braconi, D.; Geminiani, M.; Santucci, A.
Destabilization of Helix III Initiates Early Serum Amyloid A Misfolding by Exposing Its Amyloidogenic Core
2025-01-01 Nadwa, Haidara; Brotzakis, Z Faidon; Santucci, Annalisa; Braconi, Daniela; Vendruscolo, Michele
Omics and rare diseases: challenges, applications, and future perspectives
2025-01-01 Braconi, Daniela; Nadwa, Haidara; Bernardini, Giulia; Santucci, Annalisa
Alkaptonuria
2024-01-01 Bernardini, Giulia; Braconi, Daniela; Zatkova, Andrea; Sireau, Nick; Kujawa, Mariusz J.; Introne, Wendy J.; Spiga, Ottavia; Geminiani, Michela; Gallagher, James A.; Ranganath, Lakshminarayan R.; Santucci, Annalisa
Alkaptonuria: From Molecular Insights to a Dedicated Digital Platform
2024-01-01 Milella, Maria Serena; Geminiani, Michela; Trezza, Alfonso; Visibelli, Anna; Braconi, Daniela; Santucci, Annalisa
Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies
2022-01-01 Braconi, Daniela; Geminiani, Michela; Psarelli, Eftychia Eirini; Giustarini, Daniela; Marzocchi, Barbara; Rossi, Ranieri; Bernardini, Giulia; Spiga, Ottavia; Gallagher, James A.; Le Quan Sang, Kim-Hanh; Arnoux, Jean-Baptiste; Imrich, Richard; Al-Sbou, Mohammed S.; Gornall, Matthew; Jackson, Richard; Ranganath, Lakshminarayan R.; Santucci, Annalisa
Homogentisic acid induces autophagy alterations leading to chondroptosis in human chondrocytes: Implications in Alkaptonuria
2022-01-01 Galderisi, S.; Milella, M. S.; Rossi, M.; Cicaloni, V.; Rossi, R.; Giustarini, D.; Spiga, O.; Tinti, L.; Salvini, L.; Tinti, C.; Braconi, D.; Millucci, L.; Lupetti, P.; Prischi, F.; Bernardini, G.; Santucci, A.
Survey on the recent advances in 4-Hydroxyphenylpyruvate Dioxygenase (HPPD) inhibition by diketone and triketone derivatives and congeneric compounds: structural analysis of HPPD/inhibitor complexes and structure-activity relationship considerations
2022-01-01 Governa, Paolo; Bernardini, Giulia; Braconi, Daniela; Manetti, Fabrizio; Santucci, Annalisa; Petricci, Elena
Leveraging proteomics in orphan disease research: pitfalls and potential
2021-01-01 Braconi, D.; Bernardini, G.; Spiga, O.; Santucci, A.
Omics Perspectives in Food Science
2021-01-01 Braconi, Daniela; Santucci, Annalisa
Personalized nutrition and omics technologies
2021-01-01 Braconi, Daniela; Cicaloni, Vittoria; Spiga, Ottavia; Santucci, Annalisa
Omics-based technologies for food authentication and traceability
2021-01-01 Braconi, Daniela; Millucci, Lia; Parisi, Maria Laura; Spiga, Ottavia; Santucci, Annalisa
Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease
2021-01-01 Spiga, Ottavia; Cicaloni, Vittoria; Dimitri, Giovanna Maria; Pettini, Francesco; Braconi, Daniela; Bernini, Andrea; Santucci, Annalisa
Models of rare diseases
2020-01-01 Braconi, D.; Santucci, A.
Cell and tissue models of alkaptonuria
2020-01-01 Braconi, D.; Millucci, L.; Spiga, O.; Santucci, A.
Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial
2020-01-01 Ranganath, L. R.; Psarelli, E. E.; Arnoux, J. -B.; Braconi, D.; Briggs, M.; Broijersen, A.; Loftus, N.; Bygott, H.; Cox, T. F.; Davison, A. S.; Dillon, J. P.; Fisher, M.; Fitzgerald, R.; Genovese, F.; Glasova, H.; Hall, A. K.; Hughes, A. T.; Hughes, J. H.; Imrich, R.; Jarvis, J. C.; Khedr, M.; Laan, D.; Le Quan Sang, K. -H.; Luangrath, E.; Lukacova, O.; Milan, A. M.; Mistry, A.; Mlynarikova, V.; Norman, B. P.; Olsson, B.; Rhodes, N. P.; Rovensky, J.; Rudebeck, M.; Santucci, A.; Shweihdi, E.; Scott, C.; Sedlakova, J.; Sireau, N.; Stancik, R.; Szamosi, J.; Taylor, S.; van Kan, C.; Vinjamuri, S.; Vrtikova, E.; Webb, C.; West, E.; Zanova, E.; Zatkova, A.; Gallagher, J. A.
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria
2020-01-01 Ranganath, L. R.; Milan, A. M.; Hughes, A. T.; Khedr, M.; Davison, A. S.; Shweihdi, E.; Norman, B. P.; Hughes, J. H.; Bygott, H.; Luangrath, E.; Fitzgerald, R.; Psarelli, E. E.; van Kan, C.; Laan, D.; Olsson, B.; Rudebeck, M.; Mankowitz, L.; Sireau, N.; Arnoux, J. -B.; Le Quan Sang, K. -H.; Jarvis, J. C.; Genovese, F.; Braconi, D.; Santucci, A.; Zatkova, A.; Glasova, H.; Stancik, R.; Imrich, R.; Rhodes, N. P.; Gallagher, J. A.
Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease
2020-01-01 Spiga, O.; Cicaloni, V.; Fiorini, C.; Trezza, A.; Visibelli, A.; Millucci, L.; Bernardini, G.; Bernini, A.; Marzocchi, B.; Braconi, D.; Prischi, F.; Santucci, A.
Subclinical ochronosis features in alkaptonuria: a cross-sectional study
2019-01-01 Cox, T.; Psarelli, E. E.; Taylor, S.; Shepherd, H. R.; Robinson, M.; Barton, G.; Mistry, A.; Genovese, F.; Braconi, D.; Giustarini, D.; Rossi, R.; Santucci, A.; Khedr, M.; Hughes, A.; Milan, A.; Taylor, L. F.; West, E.; Sireau, N.; Dillon, J. P.; Rhodes, N.; Gallagher, J. A.; Ranganath, L.
| Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
|---|---|---|---|---|
| Uncovering proteomic and biochemical alterations in plasma from Lesch–Nyhan disease patients | 1-gen-2026 | Javed, Sundas; Braconi, Daniela; Nadwa, Haidara; Paffetti, Alessandro; Jacomelli, Gabriella; Micheli, Vanna; Marzocchi, Barbara; Santucci, Annalisa; Bernardini, Giulia | - | |
| A Comprehensive In Vitro and In Silico Approach for Targeting 4-Hydroxyphenyl Pyruvate Dioxygenase: Towards New Therapeutics for Alkaptonuria | 1-gen-2025 | Bernardini, G.; Trezza, A.; Petricci, E.; Romagnoli, G.; Zambardino, D.; Manetti, F.; Braconi, D.; Geminiani, M.; Santucci, A. | - | |
| Destabilization of Helix III Initiates Early Serum Amyloid A Misfolding by Exposing Its Amyloidogenic Core | 1-gen-2025 | Nadwa, Haidara; Brotzakis, Z Faidon; Santucci, Annalisa; Braconi, Daniela; Vendruscolo, Michele | - | |
| Omics and rare diseases: challenges, applications, and future perspectives | 1-gen-2025 | Braconi, Daniela; Nadwa, Haidara; Bernardini, Giulia; Santucci, Annalisa | - | |
| Alkaptonuria | 1-gen-2024 | Bernardini, Giulia; Braconi, Daniela; Zatkova, Andrea; Sireau, Nick; Kujawa, Mariusz J.; Introne, Wendy J.; Spiga, Ottavia; Geminiani, Michela; Gallagher, James A.; Ranganath, Lakshminarayan R.; Santucci, Annalisa | - | |
| Alkaptonuria: From Molecular Insights to a Dedicated Digital Platform | 1-gen-2024 | Milella, Maria Serena; Geminiani, Michela; Trezza, Alfonso; Visibelli, Anna; Braconi, Daniela; Santucci, Annalisa | - | |
| Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies | 1-gen-2022 | Braconi, Daniela; Geminiani, Michela; Psarelli, Eftychia Eirini; Giustarini, Daniela; Marzocchi, Barbara; Rossi, Ranieri; Bernardini, Giulia; Spiga, Ottavia; Gallagher, James A.; Le Quan Sang, Kim-Hanh; Arnoux, Jean-Baptiste; Imrich, Richard; Al-Sbou, Mohammed S.; Gornall, Matthew; Jackson, Richard; Ranganath, Lakshminarayan R.; Santucci, Annalisa | - | |
| Homogentisic acid induces autophagy alterations leading to chondroptosis in human chondrocytes: Implications in Alkaptonuria | 1-gen-2022 | Galderisi, S.; Milella, M. S.; Rossi, M.; Cicaloni, V.; Rossi, R.; Giustarini, D.; Spiga, O.; Tinti, L.; Salvini, L.; Tinti, C.; Braconi, D.; Millucci, L.; Lupetti, P.; Prischi, F.; Bernardini, G.; Santucci, A. | - | |
| Survey on the recent advances in 4-Hydroxyphenylpyruvate Dioxygenase (HPPD) inhibition by diketone and triketone derivatives and congeneric compounds: structural analysis of HPPD/inhibitor complexes and structure-activity relationship considerations | 1-gen-2022 | Governa, Paolo; Bernardini, Giulia; Braconi, Daniela; Manetti, Fabrizio; Santucci, Annalisa; Petricci, Elena | - | |
| Leveraging proteomics in orphan disease research: pitfalls and potential | 1-gen-2021 | Braconi, D.; Bernardini, G.; Spiga, O.; Santucci, A. | - | |
| Omics Perspectives in Food Science | 1-gen-2021 | Braconi, Daniela; Santucci, Annalisa | - | |
| Personalized nutrition and omics technologies | 1-gen-2021 | Braconi, Daniela; Cicaloni, Vittoria; Spiga, Ottavia; Santucci, Annalisa | - | |
| Omics-based technologies for food authentication and traceability | 1-gen-2021 | Braconi, Daniela; Millucci, Lia; Parisi, Maria Laura; Spiga, Ottavia; Santucci, Annalisa | - | |
| Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease | 1-gen-2021 | Spiga, Ottavia; Cicaloni, Vittoria; Dimitri, Giovanna Maria; Pettini, Francesco; Braconi, Daniela; Bernini, Andrea; Santucci, Annalisa | - | |
| Models of rare diseases | 1-gen-2020 | Braconi, D.; Santucci, A. | - | |
| Cell and tissue models of alkaptonuria | 1-gen-2020 | Braconi, D.; Millucci, L.; Spiga, O.; Santucci, A. | - | |
| Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial | 1-gen-2020 | Ranganath, L. R.; Psarelli, E. E.; Arnoux, J. -B.; Braconi, D.; Briggs, M.; Broijersen, A.; Loftus, N.; Bygott, H.; Cox, T. F.; Davison, A. S.; Dillon, J. P.; Fisher, M.; Fitzgerald, R.; Genovese, F.; Glasova, H.; Hall, A. K.; Hughes, A. T.; Hughes, J. H.; Imrich, R.; Jarvis, J. C.; Khedr, M.; Laan, D.; Le Quan Sang, K. -H.; Luangrath, E.; Lukacova, O.; Milan, A. M.; Mistry, A.; Mlynarikova, V.; Norman, B. P.; Olsson, B.; Rhodes, N. P.; Rovensky, J.; Rudebeck, M.; Santucci, A.; Shweihdi, E.; Scott, C.; Sedlakova, J.; Sireau, N.; Stancik, R.; Szamosi, J.; Taylor, S.; van Kan, C.; Vinjamuri, S.; Vrtikova, E.; Webb, C.; West, E.; Zanova, E.; Zatkova, A.; Gallagher, J. A. | - | |
| Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria | 1-gen-2020 | Ranganath, L. R.; Milan, A. M.; Hughes, A. T.; Khedr, M.; Davison, A. S.; Shweihdi, E.; Norman, B. P.; Hughes, J. H.; Bygott, H.; Luangrath, E.; Fitzgerald, R.; Psarelli, E. E.; van Kan, C.; Laan, D.; Olsson, B.; Rudebeck, M.; Mankowitz, L.; Sireau, N.; Arnoux, J. -B.; Le Quan Sang, K. -H.; Jarvis, J. C.; Genovese, F.; Braconi, D.; Santucci, A.; Zatkova, A.; Glasova, H.; Stancik, R.; Imrich, R.; Rhodes, N. P.; Gallagher, J. A. | - | |
| Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease | 1-gen-2020 | Spiga, O.; Cicaloni, V.; Fiorini, C.; Trezza, A.; Visibelli, A.; Millucci, L.; Bernardini, G.; Bernini, A.; Marzocchi, B.; Braconi, D.; Prischi, F.; Santucci, A. | - | |
| Subclinical ochronosis features in alkaptonuria: a cross-sectional study | 1-gen-2019 | Cox, T.; Psarelli, E. E.; Taylor, S.; Shepherd, H. R.; Robinson, M.; Barton, G.; Mistry, A.; Genovese, F.; Braconi, D.; Giustarini, D.; Rossi, R.; Santucci, A.; Khedr, M.; Hughes, A.; Milan, A.; Taylor, L. F.; West, E.; Sireau, N.; Dillon, J. P.; Rhodes, N.; Gallagher, J. A.; Ranganath, L. | - |
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