المؤلفون: Cellini, Barbara, Pampalone, Gioena, Camaioni, Emidio, Pariano, Marilena, Catalano, Flavia, Zelante, Teresa, Dindo, Mirco, Macchioni, Lara, Di Veroli, Alessandra, Galarini, Roberta, Paoletti, Fabiola, Davidescu, Magdalena, Stincardini, Claudia, Vascelli, Gianluca, Bellet, Marina, Saba, Julie, Giovagnoli, Stefano, Giardina, Giorgio, Romani, Luigina, Costantini, Claudio

المصدر: Scientific Reports. 13(1)

مصطلحات موضوعية: Humans, Animals, Mice, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Antifungal Agents, Feasibility Studies, Inflammation, Anti-Inflammatory Agents

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0776x6n3
https://escholarship.org/content/qt0776x6n3/qt0776x6n3.pdf

المؤلفون: Brands, Marion, Balfoort, Berith, Acharya, Karabi, Bergen, Arthur, Brunetti-Pierri, Nicola, Buijs, Mark, Cellini, Barbara, Schultink, Patrick, Singh, Mandeep, Schulze, Andreas, Timmer, Corrie, Valle, David, Wanders, Ronald, Wartiovaara, Kirmo, van Karnebeek, Clara

المصدر: Molecular Genetics and Metabolism ; volume 143, issue 4, page 108609 ; ISSN 1096-7192

الاتاحة: https://doi.org/10.1016/j.ymgme.2024.108609
https://api.elsevier.com/content/article/PII:S1096719224004931?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719224004931?httpAccept=text/plain

المؤلفون: Balfoort, Berith M., Pampalone, Gioena, Ruiter, Jos P.N., Denis, Simone W., Brands, Marion M., Timmer, Corrie, Wagenmakers, Margreet A.E.M., Wanders, Ronald J.A., van Karnebeek, Clara D., Cellini, Barbara, Houtkooper, Riekelt H., Ferdinandusse, Sacha

المصدر: Balfoort , B M , Pampalone , G , Ruiter , J P N , GACR Bird's Eye View Consortium , Denis , S W , Brands , M M , Timmer , C , Wagenmakers , M A E M , Wanders , R J A , van Karnebeek , C D , Cellini , B , Houtkooper , R H & Ferdinandusse , S 2024 , ' Extending diagnostic practices in gyrate atrophy : Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay ' , Molecular Genetics and Metabolism , vol. 143 , no. ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/d79e93ec-1980-4598-8800-cf59c511cf47
https://doi.org/10.1016/j.ymgme.2024.108542
https://pure.eur.nl/ws/files/160165438/1-s2.0-S1096719224004268-main.pdf
http://www.scopus.com/inward/record.url?scp=85199324208&partnerID=8YFLogxK

المؤلفون: Cellini, Barbara

المصدر: Current Opinion in Nephrology & Hypertension ; volume 33, issue 4, page 398-404 ; ISSN 1062-4821 1473-6543

الاتاحة: http://dx.doi.org/10.1097/mnh.0000000000000987
https://journals.lww.com/10.1097/MNH.0000000000000987

المؤلفون: Costantini, Claudio, Pariano, Marilena, Puccetti, Matteo, Giovagnoli, Stefano, Pampalone, Gioena, Dindo, Mirco, Cellini, Barbara, Romani, Luigina

المصدر: Frontiers in Molecular Biosciences ; volume 11 ; ISSN 2296-889X

الاتاحة: http://dx.doi.org/10.3389/fmolb.2024.1386598
https://www.frontiersin.org/articles/10.3389/fmolb.2024.1386598/full

المؤلفون: Cederroth, Helene, Cellini, Barbara, Gonzaga-Jauregui, Claudia, Han, Jinming, Umair, Muhammad, Palmer, Elizabeth, van Zelst-Stams, Wendy

المصدر: Rare ; volume 2, page 100024 ; ISSN 2950-0087

الاتاحة: http://dx.doi.org/10.1016/j.rare.2024.100024
https://api.elsevier.com/content/article/PII:S2950008724000073?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2950008724000073?httpAccept=text/plain

المؤلفون: Floriani, Fulvio, Borri Voltattorni, Carla, Cellini, Barbara, Montioli, Riccardo

المساهمون: Floriani, Fulvio, Borri Voltattorni, Carla, Cellini, Barbara, Montioli, Riccardo

مصطلحات موضوعية: gyrate atrophy of choroid and retina, interface mutations, ornithine aminotransferase, pathogenic variants, pyridoxal 5′-phosphate

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/36834788; info:eu-repo/semantics/altIdentifier/wos/WOS:000939916800001; volume:24; issue:4; firstpage:1; lastpage:17; numberofpages:17; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11562/1088131; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149035737; https://doi.org/10.3390/ijms24043369

الاتاحة: https://hdl.handle.net/11562/1088131
https://doi.org/10.3390/ijms24043369

المؤلفون: Ragavan, Vinitha N, Nair, Pramod C, Jarzebska, Natalia, Angom, Ramcharan Singh, Ruta, Luana, Bianconi, Elisa, Grottelli, Silvia, Tararova, Natalia D, Ryazanskiy, Daniel, Lentz, Steven R, Tommasi, Sara, Martens-Lobenhoffer, Jens, Suzuki-Yamamoto, Toshiko, Kimoto, Masumi, Rubets, Elena, Chau, Sarah, Chen, Yingjie, Hu, Xinli, Bernhardt, Nadine, Spieth, Peter M, Weiss, Norbert, Bornstein, Stefan R, Mukhopadhyay, Debabrata, Bode-Böger, Stefanie M, Maas, Renke, Wang, Ying, Macchiarulo, Antonio, Mangoni, Arduino A, Cellini, Barbara, Rodionov, Roman N

المصدر: Ragavan, Vinitha N; Nair, Pramod C; Jarzebska, Natalia; Angom, Ramcharan Singh; Ruta, Luana; Bianconi, Elisa; Grottelli, Silvia; Tararova, Natalia D; Ryazanskiy, Daniel; Lentz, Steven R; Tommasi, Sara; Martens-Lobenhoffer, Jens; Suzuki-Yamamoto, Toshiko; Kimoto, Masumi; Rubets, Elena; Chau, Sarah; Chen, Yingjie; Hu, Xinli; Bernhardt, Nadine; Spieth, Peter M; Weiss, Norbert; Bornstein, Stefan R; Mukhopadhyay, Debabrata; Bode-Böger, Stefanie M; Maas, Renke; Wang, Ying; Macchiarulo, Antonio; Mangoni, Arduino A; Cellini, Barbara; Rodionov, Roman N (2023). A multicentric consortium study demonstrates that dimethylarginine dimethylaminohydrolase 2 is not a dimethylarginine dimethylaminohydrolase. Nature Communications, 14(1):3392.

مصطلحات موضوعية: Clinic for Endocrinology and Diabetology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/255644/1/ZORA255644.pdf; info:pmid/37296100; urn:issn:2041-1723

الاتاحة: https://www.zora.uzh.ch/id/eprint/255644/
https://www.zora.uzh.ch/id/eprint/255644/1/ZORA255644.pdf

المؤلفون: Boffa, Iolanda, Polishchuk, Elena, De Stefano, Lucia, Dell'Aquila, Fabio, Nusco, Edoardo, Marrocco, Elena, Audano, Matteo, Pedretti, Silvia, Caterino, Marianna, Bellezza, Ilaria, Ruoppolo, Margherita, Mitro, Nico, Cellini, Barbara, Auricchio, Alberto, Brunetti-Pierri, Nicola

المساهمون: I. Boffa, E. Polishchuk, L. De Stefano, F. Dell'Aquila, E. Nusco, E. Marrocco, M. Audano, S. Pedretti, M. Caterino, I. Bellezza, M. Ruoppolo, N. Mitro, B. Cellini, A. Auricchio, N. Brunetti-Pierri

مصطلحات موضوعية: AAV, gyrate atrophy of choroid and retina, inherited metabolic disease, liver gene therapy, ornithine aminotransferase, Settore BIO/10 - Biochimica

Relation: info:eu-repo/semantics/altIdentifier/pmid/36647689; info:eu-repo/semantics/altIdentifier/wos/WOS:000915406700001; volume:15; issue:4; firstpage:1; lastpage:16; numberofpages:16; journal:EMBO MOLECULAR MEDICINE; https://hdl.handle.net/2434/963318; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85146394436

الاتاحة: https://hdl.handle.net/2434/963318
https://doi.org/10.15252/emmm.202217033

المؤلفون: Ragavan, Vinitha N., Nair, Pramod C., Jarzebska, Natalia, Angom, Ramcharan Singh, Ruta, Luana, Bianconi, Elisa, Grottelli, Silvia, Tararova, Natalia D., Ryazanskiy, Daniel, Lentz, Steven R., Tommasi, Sara, Martens-Lobenhoffer, Jens, Suzuki-Yamamoto, Toshiko, Kimoto, Masumi, Rubets, Elena, Chau, Sarah, Chen, Yingjie, Hu, Xinli, Bernhardt, Nadine, Spieth, Peter M., Weiss, Norbert, Bornstein, Stefan R., Mukhopadhyay, Debabrata, Bode-Böger, Stefanie M., Maas, Renke, Wang, Ying, Macchiarulo, Antonio, Mangoni, Arduino A., Cellini, Barbara, Rodionov, Roman N.

المساهمون: Deutsche Stiftung für Herzforschung, Deutscher Akademischer Austauschdienst, U.S. Department of Health & Human Services | National Institutes of Health

المصدر: Nature Communications ; volume 14, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-023-38467-9
https://www.nature.com/articles/s41467-023-38467-9.pdf
https://www.nature.com/articles/s41467-023-38467-9

المؤلفون: Marchetti, Marialaura, Puglisi, Rita, Cellini, Barbara, Dindo, Mirco, Marchesani, Francesco

المصدر: Frontiers in Molecular Biosciences ; volume 10 ; ISSN 2296-889X

الاتاحة: http://dx.doi.org/10.3389/fmolb.2023.1147451
https://www.frontiersin.org/articles/10.3389/fmolb.2023.1147451/full

المؤلفون: Davidescu, Magdalena, Mezzasoma, Letizia, Fettucciari, Katia, Pascucci, Luisa, Pariano, Marilena, Di Michele, Alessandro, Bereshchenko, Oxana, Cagini, Carlo, Cellini, Barbara, Corazzi, Lanfranco, Bellezza, Ilaria, Macchioni, Lara

المساهمون: Dipartimento di Medicina e Chirurgia, Università degli Studi di Milano-Bicocca, Università degli Studi di Perugia

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Cell Research ; volume 1870, issue 8, page 119554 ; ISSN 0167-4889

الاتاحة: http://dx.doi.org/10.1016/j.bbamcr.2023.119554
https://api.elsevier.com/content/article/PII:S0167488923001271?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0167488923001271?httpAccept=text/plain

المؤلفون: Gatticchi, Leonardo, Dindo, Mirco, Pampalone, Gioena, Conter, Carolina, Cellini, Barbara, Takayama, Tatsuya

المساهمون: Oxalosis and Hyperoxaluria Foundation

المصدر: Biochemical and Biophysical Research Communications ; volume 645, page 118-123 ; ISSN 0006-291X

الاتاحة: http://dx.doi.org/10.1016/j.bbrc.2023.01.042
https://api.elsevier.com/content/article/PII:S0006291X23000736?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0006291X23000736?httpAccept=text/plain

المؤلفون: Costantini, Claudio, Dindo, Mirco, Pariano, Marilena, Stincardini, Claudia, Grottelli, Silvia, Gatticchi, Leonardo, Mandrile, Giorgia, Cellini, Barbara, Romani, Luigina

المصدر: Microbiota and Host ; volume 2, issue 1 ; ISSN 2753-6955

الاتاحة: https://doi.org/10.1530/mah-23-0020
https://mah.bioscientifica.com/view/journals/mah/2/1/MAH-23-0020.xml
https://mah.bioscientifica.com/downloadpdf/journals/mah/2/1/MAH-23-0020.xml

المؤلفون: Mandrile, Giorgia, Cellini, Barbara, Ferraro, Pietro Manuel

المصدر: Current Opinion in Nephrology & Hypertension; Mar2025, Vol. 34 Issue 2, p177-183, 7p

المؤلفون: Mandrile, Giorgia, Pelle, Alessandra, Sciannameo, Veronica, Benetti, Elisa, D'Alessandro, Maria Michela, Emma, Francesco, Montini, Giovanni, Peruzzi, Licia, Petrarulo, Michele, Romagnoli, Renato, Vitale, Corrado, Cellini, Barbara, Giachino, Daniela

المساهمون: Mandrile, Giorgia, Pelle, Alessandra, Sciannameo, Veronica, Benetti, Elisa, D'Alessandro, Maria Michela, Emma, Francesco, Montini, Giovanni, Peruzzi, Licia, Petrarulo, Michele, Romagnoli, Renato, Vitale, Corrado, Cellini, Barbara, Giachino, Daniela

مصطلحات موضوعية: Genotype–phenotype, Italy, Primary hyperoxaluria

Relation: info:eu-repo/semantics/altIdentifier/pmid/35218550; firstpage:1; lastpage:10; numberofpages:10; journal:JN. JOURNAL OF NEPHROLOGY; http://hdl.handle.net/2318/1844226; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85125223359; https://link.springer.com/article/10.1007/s40620-022-01258-4

الاتاحة: http://hdl.handle.net/2318/1844226
https://doi.org/10.1007/s40620-022-01258-4
https://link.springer.com/article/10.1007/s40620-022-01258-4

المؤلفون: Dindo, Mirco, Pascarelli, Stefano, Chiasserini, Davide, Grottelli, Silvia, Costantini, Claudio, Uechi, Gen‐Ichiro, Giardina, Giorgio, Laurino, Paola, Cellini, Barbara

المساهمون: Dindo, Mirco, Pascarelli, Stefano, Chiasserini, Davide, Grottelli, Silvia, Costantini, Claudio, Uechi, Gen‐ichiro, Giardina, Giorgio, Laurino, Paola, Cellini, Barbara

مصطلحات موضوعية: alanine:glyoxylate aminotransferase, conformational plasticity, protein evolution, protein fitne, structural dynamics

Relation: info:eu-repo/semantics/altIdentifier/pmid/35481644; info:eu-repo/semantics/altIdentifier/wos/WOS:000788245500032; volume:31; issue:5; numberofpages:18; journal:PROTEIN SCIENCE; http://hdl.handle.net/11573/1628655; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85129109594

الاتاحة: http://hdl.handle.net/11573/1628655
https://doi.org/10.1002/pro.4303

المؤلفون: Bigiotti, Carlo, Bianconi, Elisa, Ruta, Luana, Grottelli, Silvia, Coletti, Alice, Dindo, Mirco, Carotti, Andrea, Cellini, Barbara, Macchiarulo, Antonio

المصدر: Journal of Chemical Information & Modeling; 9/9/2024, Vol. 64 Issue 17, p6866-6879, 14p

المؤلفون: Pampalone, Gioena, Chiasserini, Davide, Pierigè, Francesca, Camaioni, Emidio, Orvietani, Pier Luigi, Bregalda, Alessandro, Menotta, Michele, Bellezza, Ilaria, Rossi, Luigia, Cellini, Barbara, Magnani, Mauro

المساهمون: Pampalone, Gioena, Chiasserini, Davide, Pierigè, Francesca, Camaioni, Emidio, Orvietani, Pier Luigi, Bregalda, Alessandro, Menotta, Michele, Bellezza, Ilaria, Rossi, Luigia, Cellini, Barbara, Magnani, Mauro

مصطلحات موضوعية: drug delivery, enzyme administration, erythrocyte, gyrate atrophy, ornithine aminotransferase, pyridoxal phosphate

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001277384200001; volume:25; issue:14; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11576/2750131

الاتاحة: https://hdl.handle.net/11576/2750131
https://doi.org/10.3390/ijms25147931

المؤلفون: Mandrile, Giorgia, Cellini, Barbara, Ferraro, Pietro Manuel

المساهمون: Mandrile, Giorgia, Cellini, Barbara, Ferraro, Pietro Manuel

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/39641329; journal:CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION; https://hdl.handle.net/11391/1590414

الاتاحة: https://hdl.handle.net/11391/1590414
https://doi.org/10.1097/MNH.0000000000001057