Zobrazeno 1 - 10
of 105
pro vyhledávání: '"Familial encephalopathy with neuroserpin inclusion bodies"'
Autor:
Hideo Handa, Atsuhiko Sugiyama, Tadashi Kaname, Yoko Shigemoto, Noriko Sato, Shigeki Hirano, Yuki Nakagawa, Akiyuki Uzawa, Akiyo Aotsuka, Satoshi Kuwabara
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-6 (2024)
Abstract Background Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a rare genetic disorder characterized by progressive cognitive decline and myoclonic epilepsy, caused by pathogenic variants of SERPINI1. We reported a case of g
Externí odkaz:
https://doaj.org/article/8a473ae3b90b45d0b32ce7ad40dfc6e7
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Noemi A. Guadagno, Claudia Moriconi, Valerio Licursi, Emanuela D'Acunto, Paola S. Nisi, Nicoletta Carucci, Antonella De Jaco, Emanuele Cacci, Rodolfo Negri, Giuseppe Lupo, Elena Miranda
Publikováno v:
Neurobiology of Disease, Vol 103, Iss , Pp 32-44 (2017)
The serpinopathies are human pathologies caused by mutations that promote polymerisation and intracellular deposition of proteins of the serpin superfamily, leading to a poorly understood cell toxicity. The dementia FENIB is caused by polymerisation
Externí odkaz:
https://doaj.org/article/40f41ac322b146d2a0e0a47bb55bb048
Autor:
Stefano Ricagno, Cristina Visentin, Annamaria Fra, Elena Miranda, Giovanna Galliciotti, Emanuela D'Acunto, Mauro Manno
Publikováno v:
Cellular and Molecular Life Sciences
Neuroserpin is a serine protease inhibitor identified in a search for proteins implicated in neuronal axon growth and synapse formation. Since its discovery over 30 years ago, it has been the focus of active research. Many efforts have concentrated i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6382d243b484afe7fed702f441be0df1
https://doi.org/10.1007/s00018-021-03907-6
https://doi.org/10.1007/s00018-021-03907-6
Akademický článek
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Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Scientific Reports
Scientific Reports
A possible role for calcium signalling in the autosomal dominant form of dementia, familial encephalopathy with neuroserpin inclusion bodies (FENIB), has been proposed, which may point towards a mechanism by which cells could sense and respond to the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e6246f84ec38961800069593bbdf997
http://link.springer.com/article/10.1038/s41598-019-53535-1
http://link.springer.com/article/10.1038/s41598-019-53535-1
Autor:
Christian Linnenberg, Johannes Kirchmair, Markus Glatzel, David Wasilewski, Behnam Mohammadi, Elena Miranda, Shabnam Temori, Emanuela D'Acunto, Robert C. Glen, Giovanna Galliciotti, Thies Ingwersen, Irene Paolucci
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Scientific Reports
Scientific Reports
Funder: Pasteur Institute – Cenci Bolognetti Foundation
Funder: Sapienza University of Rome
Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a progressive neurodegenerative disease caused by point mutations in the gene
Funder: Sapienza University of Rome
Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a progressive neurodegenerative disease caused by point mutations in the gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::937b23535f90e614a5016fe3e555e9bc
Autor:
Claudia Moriconi, Valerio Licursi, Giuseppe Lupo, Emanuela D'Acunto, Emanuele Cacci, Elena Miranda, Nicoletta Carucci, Noemi Antonella Guadagno, Rodolfo Negri, Antonella De Jaco, Paola S. Nisi
Publikováno v:
Neurobiology of Disease
Neurobiology of Disease, Vol 103, Iss, Pp 32-44 (2017)
Neurobiology of Disease, Vol 103, Iss, Pp 32-44 (2017)
The serpinopathies are human pathologies caused by mutations that promote polymerisation and intracellular deposition of proteins of the serpin superfamily, leading to a poorly understood cell toxicity. The dementia FENIB is caused by polymerisation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e80be70f0ed1b0fc6e7f713e96db2e01
http://europepmc.org/articles/PMC5439028
http://europepmc.org/articles/PMC5439028
Autor:
Claudia Moriconi, Loana Musso, Francesca Bonato, Martino Bolognesi, Daniele Passarella, Rosaria Russo, Cristina Visentin, Luca Broggini, Elena Miranda, Stefano Ricagno, Sabrina Dallavalle
Publikováno v:
Life
Volume 10
Issue 7
Life, Vol 10, Iss 111, p 111 (2020)
Volume 10
Issue 7
Life, Vol 10, Iss 111, p 111 (2020)
Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a severe and lethal neurodegenerative disease. Upon specific point mutations in the SERPINI1gene-coding for the human protein neuroserpin (NS) the resulting pathologic NS variants p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e839508b34cd0d7063a157607cb7e81
Autor:
Emanuela D'Acunto, Diego Sepulveda-Falla, Antonella De Jaco, Giovanna Galliciotti, Elena Miranda
Oxidative stress is well recognized as an important pathological component in many conditions that involve neuronal degeneration and dementia. In this chapter, we summarize experimental data from the literature on the role of oxidative stress in comm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::681044a7d830ecbd2342497211810310
https://doi.org/10.1016/b978-0-12-815868-5.00010-4
https://doi.org/10.1016/b978-0-12-815868-5.00010-4