Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Silvia Galderisi"'
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 6, p 5819 (2023)
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 conformational disorders arise when proteins adopt abnormal conformations due to a pathological ge
Externí odkaz:
https://doaj.org/article/5c3efe332b5d4242aa0215942597a0d5
Autor:
Daniela Grasso, Michela Geminiani, Silvia Galderisi, Gabriella Iacomelli, Luana Peruzzi, Barbara Marzocchi, Annalisa Santucci, Andrea Bernini
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 24, p 15805 (2022)
Alkaptonuria (AKU) is an ultra-rare metabolic disease caused by the accumulation of homogentisic acid (HGA), an intermediate product of phenylalanine and tyrosine degradation. AKU patients carry variants within the gene coding for homogentisate-1,2-d
Externí odkaz:
https://doaj.org/article/c9078e40a76247f2bf076da79c9ad7ef
Autor:
Lia Millucci, Mariagiulia Minetti, Maurizio Orlandini, Daniela Braconi, Maria Lucia Schiavone, Silvia Galderisi, Barbara Marzocchi, Ottavia Spiga, Roberto Rappuoli, Adriano Spreafico, Giuseppe Perretti, Giulia Bernardini, Annalisa Santucci
Publikováno v:
Journal of Functional Foods, Vol 54, Iss , Pp 109-118 (2019)
Silicon (Si) is an essential element for bone metabolism and beer is one of the richest sources of orthosilicic acid (OSA), the readily bioavailable form of Si. In this work, we compared the in vitro pro-anabolic effects on human osteoblastic cells o
Externí odkaz:
https://doaj.org/article/bd896f167921425da03f59f63974da45
Homogentisic acid induces cytoskeleton and extracellular matrix alteration in alkaptonuric cartilage
Autor:
Annalisa Santucci, Otilia V. Vieira, Maria Serena Milella, Laura Salvini, Silvia Galderisi, Vittoria Cicaloni, Alvaro H. Crevenna, Laura Tinti, Michela Geminiani, Lia Millucci, Cristina Tinti, Ottavia Spiga, Liliana S. Alves
Publikováno v:
Journal of Cellular Physiology. 236:6011-6024
Alkaptonuria (AKU) is an ultra-rare disease caused by the deficient activity of homogentisate 1,2-dioxygenase enzyme, leading the accumulation of homogentisic acid (HGA) in connective tissues implicating the formation of a black pigmentation called "
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::787f85ee79be3ab59e8762cd3f795a20
https://doi.org/10.1002/jcp.30284
https://doi.org/10.1002/jcp.30284
Autor:
Silvia Galderisi, Maria Serena Milella, Martina Rossi, Vittoria Cicaloni, Ranieri Rossi, Daniela Giustarini, Ottavia Spiga, Laura Tinti, Laura Salvini, Cristina Tinti, Daniela Braconi, Lia Millucci, Pietro Lupetti, Filippo Prischi, Giulia Bernardini, Annalisa Santucci
Publikováno v:
Archives of biochemistry and biophysics. 717
Alkaptonuria (AKU) is an ultra-rare genetic disease caused by a deficient activity of the enzyme homogentisate 1,2-dioxygenase (HGD) leading to the accumulation of homogentisic acid (HGA) on connective tissues. Even though AKU is a multi-systemic dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4385805663ff8203adc256e886da771c
https://pubmed.ncbi.nlm.nih.gov/35090868
https://pubmed.ncbi.nlm.nih.gov/35090868
Autor:
Lakshminarayan R. Ranganath, Silvia Galderisi, Vittoria Cicaloni, Ottavia Spiga, Martina Sekelska, Ivana Borovska, Birgitta Olsson, Andrea Zatkova, Annalisa Santucci, Andrea Bernini, Monica Tiezzi, Andrea Soltysova, David B. Ascher, Jana Kralovicova, Douglas E. V. Pires
Publikováno v:
Eur J Hum Genet
Alkaptonuria (AKU) is a rare metabolic disorder caused by a deficient enzyme in the tyrosine degradation pathway, homogentisate 1,2-dioxygenase (HGD). In 172 AKU patients from 39 countries, we identified 28 novel variants of the HGD gene, which inclu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3779ed9af2a2aaec3f9c3f5142b2b32d
https://doi.org/10.1038/s41431-019-0354-0
https://doi.org/10.1038/s41431-019-0354-0
Autor:
Silvia Galderisi, Chukwudi Onyekachi Amarabom, Ottavia Spiga, Annalisa Santucci, Andrea Bernini
Publikováno v:
Computational biology and chemistry. 88
Alkaptonuria (AKU) is an ultra-rare disease caused by mutations in homogentisate 1,2-dioxygenase (HGD) enzyme, characterized by the loss of enzymatic activity and the accumulation of its substrate, homogentisic acid (HGA) in different tissues, leadin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f20db06d15cabcb4522e23ebd398570
https://pubmed.ncbi.nlm.nih.gov/32823072
https://pubmed.ncbi.nlm.nih.gov/32823072
Autor:
Lia Millucci, Silvia Galderisi, Giorgia Giacomini, Vittoria Cicaloni, Monica Bianchini, Annalisa Santucci, Maria Serena Milella, Alberto Rossi, Andrea Bernini, Ottavia Spiga
ApreciseKUre is a multi-purpose digital platform facilitating data collection, integration and analysis for patients affected by Alkaptonuria (AKU), an ultra-rare autosomal recessive genetic disease. We present an ApreciseKUre plugin, called AKUImg,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13ac21247a074e3b2a3b53bf7e8062cd
http://hdl.handle.net/11365/1117816
http://hdl.handle.net/11365/1117816
Autor:
Annalisa Santucci, Pietro Lupetti, Silvia Galderisi, Giulia Bernardini, Daniela Braconi, Giovanna Giorgetti, Marco Consumi, Agnese Magnani, Cecilia Viti, Gemma Leone, Lia Millucci, Ottavia Spiga, Barbara Marzocchi
Alkaptonuria (AKU) is a disease caused by a deficient homogentisate 1,2-dioxygenase activity leading to systemic accumulation of homogentisic acid (HGA), that forms a melanin-like polymer that progressively deposits onto connective tissues causing a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d71531f1f147f51ad2d40d9b412a425
http://hdl.handle.net/11365/1062011
http://hdl.handle.net/11365/1062011
Autor:
Roberto Rappuoli, Giuseppe Perretti, Annalisa Santucci, Lia Millucci, Ottavia Spiga, Maurizio Orlandini, Mariagiulia Minetti, Daniela Braconi, Maria Lucia Schiavone, Barbara Marzocchi, Adriano Spreafico, Silvia Galderisi, Giulia Bernardini
Publikováno v:
Journal of Functional Foods, Vol 54, Iss, Pp 109-118 (2019)
Silicon (Si) is an essential element for bone metabolism and beer is one of the richest sources of orthosilicic acid (OSA), the readily bioavailable form of Si. In this work, we compared the in vitro pro-anabolic effects on human osteoblastic cells o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3150e13e6599abc41cbf252bb354ac4
http://hdl.handle.net/11391/1447967
http://hdl.handle.net/11391/1447967