Zobrazeno 1 - 10
of 92
pro vyhledávání: '"Claudia Manzoni"'
Autor:
Lucia Iannotta, Rachel Fasiczka, Giulia Favetta, Yibo Zhao, Elena Giusto, Elena Dall’Ara, Jianning Wei, Franz Y. Ho, Claudia Ciriani, Susanna Cogo, Isabella Tessari, Ciro Iaccarino, Maxime Liberelle, Luigi Bubacco, Jean-Marc Taymans, Claudia Manzoni, Arjan Kortholt, Laura Civiero, Sabine Hilfiker, Michael L. Lu, Elisa Greggio
Publikováno v:
Cell Death and Disease, Vol 15, Iss 10, Pp 1-14 (2024)
Abstract P21 activated kinase 6 (PAK6) is a serine-threonine kinase with physiological expression enriched in the brain and overexpressed in a number of human tumors. While the role of PAK6 in cancer cells has been extensively investigated, the physi
Externí odkaz:
https://doaj.org/article/795a4c0f9a0e410b87c1129fe09b26ab
Autor:
Yibo Zhao, Matthew Bracher-Smith, Yuelin Li, Kirsten Harvey, Valentina Escott-Price, Patrick A. Lewis, Claudia Manzoni
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-12 (2024)
Abstract Mutations in the LRRK2 gene are the most common genetic cause of familial Parkinson’s Disease (LRRK2-PD) and an important risk factor for sporadic PD (sPD). Multiple clinical trials are ongoing to evaluate the benefits associated with the
Externí odkaz:
https://doaj.org/article/fc4590b86b70457288bcf07b9fac00ae
Autor:
Stephanie Efthymiou, Wenyan Han, Muhammad Ilyas, Jun Li, Yichao Yu, Marcello Scala, Nancy T. Malintan, Nikoleta Vavouraki, Kshitij Mankad, Reza Maroofian, Clarissa Rocca, Vincenzo Salpietro, Shenela Lakhani, Eric J. Mallack, Timothy Blake Palculict, Hong Li, Guojun Zhang, Faisal Zafar, Nuzhat Rana, Noriko Takashima, Hayato Matsunaga, Claudia Manzoni, Pasquale Striano, Mark F. Lythgoe, Jun Aruga, Wei Lu, Henry Houlden
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
This study reports on biallelic homozygous and monoallelic de novo variants in SLITRK3 in three unrelated families presenting with epileptic encephalopathy associated with a broad neurological involvement characterized by microcephaly, intellectual d
Externí odkaz:
https://doaj.org/article/4c9fba0e92c64e6881b4e82760b9b3c3
Autor:
Yibo Zhao, Nikoleta Vavouraki, Ruth C Lovering, Valentina Escott-Price, Kirsten Harvey, Patrick A Lewis, Claudia Manzoni
Publikováno v:
PLoS Computational Biology, Vol 19, Iss 1, p e1010847 (2023)
Mutations in LRRK2 are the most common genetic cause of Parkinson's disease. Despite substantial research efforts, the physiological and pathological role of this multidomain protein remains poorly defined. In this study, we used a systematic approac
Externí odkaz:
https://doaj.org/article/1f3c7c54bb334c4e8da94f2f1468b5ac
Autor:
Susanna Cogo, James E. Tomkins, Nikoleta Vavouraki, Veronica Giusti, Federica Forcellato, Cinzia Franchin, Isabella Tessari, Giorgio Arrigoni, Laura Cendron, Claudia Manzoni, Laura Civiero, Patrick A. Lewis, Elisa Greggio
Publikováno v:
Neurobiology of Disease, Vol 174, Iss , Pp 105858- (2022)
Mutations in SPG11, encoding spatacsin, constitute the major cause of autosomal recessive Hereditary Spastic Paraplegia (HSP) with thinning of the corpus callosum. Previous studies showed that spatacsin orchestrates cellular traffic events through th
Externí odkaz:
https://doaj.org/article/44f7aee8cceb414d95b4e9e6dd924b2f
Autor:
Jillian H. Kluss, Melissa Conti Mazza, Yan Li, Claudia Manzoni, Patrick A. Lewis, Mark R. Cookson, Adamantios Mamais
Publikováno v:
Molecular Neurodegeneration, Vol 16, Iss 1, Pp 1-19 (2021)
Abstract The most common mutation in the Leucine-rich repeat kinase 2 gene (LRRK2), G2019S, causes familial Parkinson’s Disease (PD) and renders the encoded protein kinase hyperactive. While targeting LRRK2 activity is currently being tested in cli
Externí odkaz:
https://doaj.org/article/52ef7f0af69a412e95a2ef217da36658
Autor:
James E. Tomkins, Raffaele Ferrari, Nikoleta Vavouraki, John Hardy, Ruth C. Lovering, Patrick A. Lewis, Liam J. McGuffin, Claudia Manzoni
Publikováno v:
Cell Communication and Signaling, Vol 18, Iss 1, Pp 1-11 (2020)
Abstract Background The past decade has seen the rise of omics data for the understanding of biological systems in health and disease. This wealth of information includes protein-protein interaction (PPI) data derived from both low- and high-throughp
Externí odkaz:
https://doaj.org/article/fbbb220597654270919cf3a60a0a1b6a
Autor:
James E. Tomkins, Claudia Manzoni
Publikováno v:
Neurobiology of Disease, Vol 155, Iss , Pp 105395- (2021)
Protein-protein interactions (PPIs) are a key component of the subcellular molecular networks which enable cells to function. Due to their importance in homeostasis, alterations to the networks can be detrimental, leading to cellular dysfunction and
Externí odkaz:
https://doaj.org/article/5c5c7c9d85e749f1936bca8d12c5bc4d
Autor:
Clara Ruz, José Luis Alcantud, Francisco Vives, Francisco Arrebola, John Hardy, Patrick A. Lewis, Claudia Manzoni, Raquel Duran
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 13, p 6935 (2022)
Mutations in LRRK2 and GBA1 are key contributors to genetic risk of developing Parkinson’s disease (PD). To investigate how LRRK2 kinase activity interacts with GBA and contributes to lysosomal dysfunctions associated with the pathology of PD. The
Externí odkaz:
https://doaj.org/article/76c384a670744734a1775f258021b7f1
Autor:
Nikoleta Vavouraki, James E. Tomkins, Eleanna Kara, Henry Houlden, John Hardy, Marcus J. Tindall, Patrick A. Lewis, Claudia Manzoni
Publikováno v:
iScience, Vol 24, Iss 5, Pp 102484- (2021)
Summary: The Hereditary Spastic Paraplegias are a group of neurodegenerative diseases characterized by spasticity and weakness in the lower body. Owing to the combination of genetic diversity and variable clinical presentation, the Hereditary Spastic
Externí odkaz:
https://doaj.org/article/28e4847168b144048b55401487676d3f