Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Pellico, Mt"'
Autor:
Mirella, Filocamo, Chiara, Baldo, Stefano, Goldwurm, Renieri, Alessandra, Corrado, Angelini, Maurizio, Moggio, Marina, Mora, Giuseppe, Merla, Luisa, Politano, Barbara, Garavaglia, Lorena, Casareto, Francesca, Bricarelli, Telethon Network of Genetic Biobanks Staff, Corsolini, F, Galotto, S, Mazzotti, R, Stroppiana, G, Castagnetta, M, Mogni, M, Viotti, V, Bonetti, A, Felici, F, Natuzzi, F, Amabile, S, Frullanti, E, Meloni, I, Fanin, M, Nascimbeni, A, Pegoraro, E, Peterle, E, Napoli, L, Ripolone, M, Sciacco, M, Violano, R, Canioni, E, Gibertini, S, Saredi, S, Zanotti, S, Fusco, C, Micale, L, Pellico, Mt, Zelante, L, D'Ambrosio, P, Picillo, E, Taglia, A, Barzaghi, C, Panteghini, C, Valletta, L.
Publikováno v:
Orphanet Journal of Rare Diseases
Several examples have always illustrated how access to large numbers of biospecimens and associated data plays a pivotal role in the identification of disease genes and the development of pharmaceuticals. Hence, allowing researchers to access to sign
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e22aaff59f6ff5d95ee3086e46d5264
Autor:
Lucia Micale, Gian Maria Fimia, Gabriella Maria Squeo, Carmela Fusco, Barbara Mandriani, Eva Sjøttem, Martina Di Rienzo, Dario Cocciadiferro, Natascia Malerba, Bartolomeo Augello, Giuseppe Merla, Ashish Jain, Maria Teresa Pellico, Terje Johansen
Autophagy is a catabolic process needed for maintaining cell viability and homeostasis in response to numerous stress conditions. Emerging evidence indicates that the ubiquitin system has a major role in this process. TRIMs, an E3 ligase protein fami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccc8543169120d73e5a9cde29475041d
http://hdl.handle.net/11573/1410993
http://hdl.handle.net/11573/1410993
Autor:
Pasquelena De Nittis, Maria Teresa Pellico, Natascia Malerba, Bartolomeo Augello, Alexandre Reymond, Ali Abdullah Alfaiz, Giuseppe Merla, Leopoldo Zelante, Carmela Fusco
Split hand/foot malformation with long bone deficiency (SHFLD) is a congenital limb anomaly where hands and/or feet cleft and syndactyly are associated with long bone defects, usually involving the tibia. Previously published data reported that 17p13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0521b1d659d43a602f652bdeee3408a
http://hdl.handle.net/11588/891469
http://hdl.handle.net/11588/891469
Autor:
Maria Teresa Pellico, Luca Sangiorgi, Marina Mora, Stefano Goldwurm, Raffaella Mazzotti, Mirella Filocamo, Chiuhui Mary Wang, Chiara Barzaghi, Elena Pegoraro, Luisa Politano, Valeria Viotti, Maurizio Moggio, Alessandra Renieri, Lucia Monaco, Giuseppe Merla, C. Baldo, Ilaria Meloni, Lorena Casareto, Barbara Garavaglia
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 11, Iss 1, Pp 1-8 (2016)
Orphanet Journal of Rare Diseases, Vol 11, Iss 1, Pp 1-8 (2016)
Background Rare diseases (RDs) are often neglected because they affect a small percentage of the population (6–8 %), which makes research and development of new therapies challenging processes. Easy access to high-quality samples and associated cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a8334171a474b129de984a102ed0846
http://hdl.handle.net/11577/3232604
http://hdl.handle.net/11577/3232604
Autor:
Deny Menghini, Carmela Fusco, Orazio Palumbo, Bartolomeo Augello, Maria Teresa Pellico, Giuseppe Merla, Barbara Mandriani, Massimo Carella, Maria Cristina Digilio, Stefano Vicari, Lucia Micale, Paolo Alfieri
Williams Beuren syndrome (WBS) is a multisystemic disorder caused by a hemizygous deletion of 1.5 Mb on chromosome 7q11.23 spanning 28 genes. A few patients with larger and smaller WBS deletion have been reported. They show clinical features that var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ec67dc86030961832c3fe8cf3d67df6
http://hdl.handle.net/10807/167161
http://hdl.handle.net/10807/167161
Autor:
Giuseppe Merla, Flora Cozzolino, Carmela Fusco, Piero Pucci, Pasquelena De Nittis, Barbara Mandriani, Maria Chiara Monti, Bartolomeo Augello, Maria Teresa Pellico, Alessia Calcagnì, Lucia Micale
Publikováno v:
Cellular signalling. 26(2)
The E3 Ubiquitin ligase TRIM50 promotes the formation and clearance of aggresome-associated polyubiquitinated proteins through HDAC6 interaction, a tubulin specific deacetylase that regulates microtubule-dependent aggresome formation. In this report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b8e279fda86bca500a842c61bbc3022
https://pubmed.ncbi.nlm.nih.gov/24308962
https://pubmed.ncbi.nlm.nih.gov/24308962
Autor:
Parente P; UOC di Anatomia Patologica, Fondazione IRCCS Casa Sollievo della Sofferenza, V.le Cappuccini, 1, 71013, San Giovanni Rotondo, FG, Italy. p.parente@operapadrepio.it., Covelli C; UOC di Anatomia Patologica, Fondazione IRCCS Casa Sollievo della Sofferenza, V.le Cappuccini, 1, 71013, San Giovanni Rotondo, FG, Italy., Parrella P; Laboratorio di Oncologia, Fondazione IRCCS Casa Sollievo della Sofferenza, V.le Padre Pio, 7, 71013, San Giovanni Rotondo, FG, Italy., Latiano TP; UOC di Oncologia, Fondazione IRCCS Casa Sollievo della Sofferenza, V.le Cappuccini, 1, 71013, San Giovanni Rotondo, FG, Italy., Fiordelisi F; UOC di Anatomia Patologica, Fondazione IRCCS Casa Sollievo della Sofferenza, V.le Cappuccini, 1, 71013, San Giovanni Rotondo, FG, Italy., Pellico MT; Laboratorio di Oncologia, Fondazione IRCCS Casa Sollievo della Sofferenza, V.le Padre Pio, 7, 71013, San Giovanni Rotondo, FG, Italy., Maiello E; UOC di Oncologia, Fondazione IRCCS Casa Sollievo della Sofferenza, V.le Cappuccini, 1, 71013, San Giovanni Rotondo, FG, Italy., Graziano P; UOC di Anatomia Patologica, Fondazione IRCCS Casa Sollievo della Sofferenza, V.le Cappuccini, 1, 71013, San Giovanni Rotondo, FG, Italy.
Publikováno v:
International journal of colorectal disease [Int J Colorectal Dis] 2020 Feb; Vol. 35 (2), pp. 337-341. Date of Electronic Publication: 2019 Dec 10.
Autor:
Di Rienzo M; National Institute for Infectious Diseases IRCCS, Lazzaro Spallanzani, 00149 Rome, Italy.; Department of Biology, University of Rome, Tor Vergata, 00133 Rome, Italy., Antonioli M; National Institute for Infectious Diseases IRCCS, Lazzaro Spallanzani, 00149 Rome, Italy., Fusco C; Division of Medical Genetics, IRCCS, Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Liu Y; Department of Dermatology, Oregon Health and Science University, Portland, OR 97239, USA., Mari M; Department of Biomedical Sciences of Cells and Systems, University of Groningen, University Medical Center Groningen, 9713 AV Groningen, Netherlands., Orhon I; Department of Biomedical Sciences of Cells and Systems, University of Groningen, University Medical Center Groningen, 9713 AV Groningen, Netherlands., Refolo G; National Institute for Infectious Diseases IRCCS, Lazzaro Spallanzani, 00149 Rome, Italy., Germani F; National Institute for Infectious Diseases IRCCS, Lazzaro Spallanzani, 00149 Rome, Italy., Corazzari M; Department of Health Sciences, University of Piemonte Orientale 'A. Avogadro', Novara, Novara, Italy., Romagnoli A; National Institute for Infectious Diseases IRCCS, Lazzaro Spallanzani, 00149 Rome, Italy., Ciccosanti F; National Institute for Infectious Diseases IRCCS, Lazzaro Spallanzani, 00149 Rome, Italy., Mandriani B; Division of Medical Genetics, IRCCS, Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Pellico MT; Division of Medical Genetics, IRCCS, Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., De La Torre R; Department of Dermatology, Oregon Health and Science University, Portland, OR 97239, USA., Ding H; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Dentice M; Department of Clinical Medicine and Surgery, University of Naples Federico II, 80131 Naples, Italy., Neri M; Section of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy., Ferlini A; Section of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy., Reggiori F; Department of Biomedical Sciences of Cells and Systems, University of Groningen, University Medical Center Groningen, 9713 AV Groningen, Netherlands., Kulesz-Martin M; Department of Dermatology, Oregon Health and Science University, Portland, OR 97239, USA.; Department of Cell, Developmental and Cancer Biology, Oregon Health and Science University, Portland, OR 97239, USA., Piacentini M; National Institute for Infectious Diseases IRCCS, Lazzaro Spallanzani, 00149 Rome, Italy.; Department of Biology, University of Rome, Tor Vergata, 00133 Rome, Italy., Merla G; Division of Medical Genetics, IRCCS, Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Fimia GM; National Institute for Infectious Diseases IRCCS, Lazzaro Spallanzani, 00149 Rome, Italy.; Department of Biological and Environmental Sciences and Technologies (DiSTeBA), University of Salento, Lecce 73100, Italy.
Publikováno v:
Science advances [Sci Adv] 2019 May 08; Vol. 5 (5), pp. eaau8857. Date of Electronic Publication: 2019 May 08 (Print Publication: 2019).
Autor:
Fusco C; Division of Medical Genetics, IRCCS Casa Sollievo Della Sofferenza, Viale Cappuccini, 71013 San Giovanni Rotondo, Italy., Mandriani B; Division of Medical Genetics, IRCCS Casa Sollievo Della Sofferenza, Viale Cappuccini, 71013 San Giovanni Rotondo, Italy., Di Rienzo M; National Institute for Infectious Diseases IRCCS 'L. Spallanzani', Rome, Italy; Department of Biology, University of Rome 'Tor Vergata', Rome, Italy., Micale L; Division of Medical Genetics, IRCCS Casa Sollievo Della Sofferenza, Viale Cappuccini, 71013 San Giovanni Rotondo, Italy., Malerba N; Division of Medical Genetics, IRCCS Casa Sollievo Della Sofferenza, Viale Cappuccini, 71013 San Giovanni Rotondo, Italy., Cocciadiferro D; Division of Medical Genetics, IRCCS Casa Sollievo Della Sofferenza, Viale Cappuccini, 71013 San Giovanni Rotondo, Italy; Ph.D Program in Experimental and Regenerative Medicine, University of Foggia, Italy., Sjøttem E; Molecular Cancer Research Group, Institute of Medical Biology, University of Tromsø-The Arctic University of Norway, 9037 Tromsø, Norway., Augello B; Division of Medical Genetics, IRCCS Casa Sollievo Della Sofferenza, Viale Cappuccini, 71013 San Giovanni Rotondo, Italy., Squeo GM; Division of Medical Genetics, IRCCS Casa Sollievo Della Sofferenza, Viale Cappuccini, 71013 San Giovanni Rotondo, Italy., Pellico MT; Division of Medical Genetics, IRCCS Casa Sollievo Della Sofferenza, Viale Cappuccini, 71013 San Giovanni Rotondo, Italy., Jain A; Molecular Cancer Research Group, Institute of Medical Biology, University of Tromsø-The Arctic University of Norway, 9037 Tromsø, Norway; Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Montebello, N-0379 Oslo, Norway., Johansen T; Molecular Cancer Research Group, Institute of Medical Biology, University of Tromsø-The Arctic University of Norway, 9037 Tromsø, Norway., Fimia GM; National Institute for Infectious Diseases IRCCS 'L. Spallanzani', Rome, Italy; Department of Biological and Environmental Sciences and Technologies (DiSTeBA), University of Salento, Lecce 73100, Italy., Merla G; Division of Medical Genetics, IRCCS Casa Sollievo Della Sofferenza, Viale Cappuccini, 71013 San Giovanni Rotondo, Italy. Electronic address: g.merla@operapadrepio.it.
Publikováno v:
Biochimica et biophysica acta. Molecular cell research [Biochim Biophys Acta Mol Cell Res] 2018 Jun; Vol. 1865 (6), pp. 908-919. Date of Electronic Publication: 2018 Mar 29.
Autor:
Fusco C; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy., Nittis P; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Alfaiz AA; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Core Facility, Swiss Institute of Bioinformatics, Lausanne, Switzerland., Pellico MT; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy., Augello B; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy., Malerba N; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy., Zelante L; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Merla G; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.
Publikováno v:
Journal of pediatric genetics [J Pediatr Genet] 2017 Jun; Vol. 6 (2), pp. 98-102. Date of Electronic Publication: 2016 Aug 31.