Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Barbara Napoli"'
Autor:
Concetta De Filippis, Barbara Napoli, Laura Rigon, Giulia Guarato, Reinhard Bauer, Rosella Tomanin, Genny Orso
Publikováno v:
Cells, Vol 11, Iss 1, p 129 (2021)
Deficit of the IDUA (α-L-iduronidase) enzyme causes the lysosomal storage disorder mucopolysaccharidosis type I (MPS I), a rare pediatric neurometabolic disease, due to pathological variants in the IDUA gene and is characterized by the accumulation
Externí odkaz:
https://doaj.org/article/829d147ff55f4946a46425ce960c5f0b
Autor:
Barbara Napoli, Sentiljana Gumeni, Alessia Forgiarini, Marianna Fantin, Concetta De Filippis, Elena Panzeri, Chiara Vantaggiato, Genny Orso
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2019)
Defects in the endoplasmic reticulum (ER) membrane shaping and interaction with other organelles seem to be a crucial mechanism underlying Hereditary Spastic Paraplegia (HSP) neurodegeneration. REEP1, a transmembrane protein belonging to TB2/HVA22 fa
Externí odkaz:
https://doaj.org/article/c6ba2cae6b5549b4bbc8de283ae86ae6
Publikováno v:
Biomedicines, Vol 9, Iss 3, p 268 (2021)
Lysosomal storage disorders (LSDs) represent a complex and heterogeneous group of rare genetic diseases due to mutations in genes coding for lysosomal enzymes, membrane proteins or transporters. This leads to the accumulation of undegraded materials
Externí odkaz:
https://doaj.org/article/9847a64346e34d339c01cd3cd033f47c
Autor:
Alessia Forgiarini, Zifei Wang, Claudio D'Amore, Morgan Jay-Smith, Freda Fan Li, Brian Hopkins, Margaret Anne Brimble, Andrea Pagetta, Sara Bersani, Sara De Martin, Barbara Napoli, Sergio Bova, David Rennison, Genny Orso
Publikováno v:
PLoS ONE, Vol 14, Iss 4, p e0211169 (2019)
In this study we investigated the performance of two norbormide (NRB)-derived fluorescent probes, NRBMC009 (green) and NRBZLW0047 (red), on dissected, living larvae of Drosophila, to verify their potential application in live cell imaging confocal mi
Externí odkaz:
https://doaj.org/article/e764cf9376a44bcf9129ba309e774b1a
Autor:
Chiara Vantaggiato, Genny Orso, Giulia Guarato, Francesca Brivio, Barbara Napoli, Elena Panzeri, Simona Masotti, Filippo Maria Santorelli, Maria Lamprou, Sentiljana Gumeni, Emilio Clementi, Maria Teresa Bassi
SPG15 is a hereditary spastic paraplegia subtype caused by mutations in Spastizin, a protein encoded by the ZFYVE26 gene. Spastizin is involved in autophagosome maturation and autophagic lysosome reformation and SPG15-related mutations lead to autoph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc01c4348bab300989059ca145202414
https://hdl.handle.net/11577/3480667
https://hdl.handle.net/11577/3480667
Autor:
Concetta De Filippis, Barbara Napoli, Laura Rigon, Giulia Guarato, Reinhard Bauer, Rosella Tomanin, Genny Orso
Publikováno v:
Cells, Vol 11, Iss 129, p 129 (2022)
Cells; Volume 11; Issue 1; Pages: 129
Cells
Cells; Volume 11; Issue 1; Pages: 129
Cells
Deficit of the IDUA (α-L-iduronidase) enzyme causes the lysosomal storage disorder mucopolysaccharidosis type I (MPS I), a rare pediatric neurometabolic disease, due to pathological variants in the IDUA gene and is characterized by the accumulation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af9050c0c5ff47bd03d511179b8cd690
http://hdl.handle.net/11577/3411739
http://hdl.handle.net/11577/3411739
Autor:
Concetta De Filippis, Sentiljana Gumeni, Marianna Fantin, Genny Orso, Chiara Vantaggiato, Barbara Napoli, Elena Panzeri, Alessia Forgiarini
Publikováno v:
Frontiers in Neuroscience
Frontiers in Neuroscience, Vol 13 (2019)
Frontiers in Neuroscience, Vol 13 (2019)
Defects in the endoplasmic reticulum (ER) membrane shaping and interaction with other organelles seem to be a crucial mechanism underlying Hereditary Spastic Paraplegia (HSP) neurodegeneration. REEP1, a transmembrane protein belonging to TB2/HVA22 fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66d24f23466ec2c234264823fd121e2f
https://doi.org/10.3389/fnins.2019.01202
https://doi.org/10.3389/fnins.2019.01202
Publikováno v:
Biomedicines, Vol 9, Iss 268, p 268 (2021)
Biomedicines
Biomedicines
Lysosomal storage disorders (LSDs) represent a complex and heterogeneous group of rare genetic diseases due to mutations in genes coding for lysosomal enzymes, membrane proteins or transporters. This leads to the accumulation of undegraded materials
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b71289b137c68a2165eff28c73c783a
https://doi.org/10.3390/biomedicines9030268
https://doi.org/10.3390/biomedicines9030268
Autor:
Barbara NAPOLI, Gumeni, S., Forgiarini, A., Fantin, M., Martinuzzi, A., SARA DE MARTIN, MONICA MONTOPOLI, genny orso
Publikováno v:
Università degli Studi di Padova-IRIS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::31bb1d3fa3489b7dba6b4a198ee7ff9c
http://hdl.handle.net/11577/3324889
http://hdl.handle.net/11577/3324889
Autor:
Zifei Wang, Andrea Pagetta, David Rennison, Freda F. Li, Brian Hopkins, Claudio D'Amore, Margaret A. Brimble, Sara Bersani, Morgan Jay-Smith, Genny Orso, Alessia Forgiarini, S. De Martin, Sergio Bova, Barbara Napoli
Publikováno v:
PLoS ONE
PLoS ONE, Vol 14, Iss 4, p e0211169 (2019)
PLoS ONE, Vol 14, Iss 4, p e0211169 (2019)
In this study we investigated the performance of two norbormide (NRB)-derived fluorescent probes, NRBMC009 (green) and NRBZLW0047 (red), on dissected, living larvae of Drosophila, to verify their potential application in confocal microscopy imaging i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e2f57855a7428d94daf3d611122ef61
http://hdl.handle.net/11577/3295242
http://hdl.handle.net/11577/3295242