Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Anthony H. V. Schapira"'
Autor:
Clodagh Towns, Zih-Hua Fang, Manuela M. X. Tan, Simona Jasaityte, Theresa M. Schmaderer, Eleanor J. Stafford, Miriam Pollard, Russel Tilney, Megan Hodgson, Lesley Wu, Robyn Labrum, Jason Hehir, James Polke, Lara M. Lange, Anthony H. V. Schapira, Kailash P. Bhatia, Parkinson’s Families Project (PFP) Study Group, Global Parkinson’s Genetics Program (GP2), Andrew B. Singleton, Cornelis Blauwendraat, Christine Klein, Henry Houlden, Nicholas W. Wood, Paul R. Jarman, Huw R. Morris, Raquel Real
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-13 (2024)
Abstract The Parkinson’s Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson’s disease (PD). We recruited individuals with a clinical diagnosis of PD and age at motor sympt
Externí odkaz:
https://doaj.org/article/492a58c74a1046dba388813690ffc138
Autor:
Pascale Baden, Maria Jose Perez, Hariam Raji, Federico Bertoli, Stefanie Kalb, María Illescas, Fokion Spanos, Claudio Giuliano, Alessandra Maria Calogero, Marvin Oldrati, Hannah Hebestreit, Graziella Cappelletti, Kathrin Brockmann, Thomas Gasser, Anthony H. V. Schapira, Cristina Ugalde, Michela Deleidi
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
GBA1 mutations cause Gaucher’s disease and are the strongest risk factor for Parkinson’s disease. Using stable cell lines and patient iPSCs, the authors show mitochondrial localization of GBA1, which may affect neurodegenerative disease risk.
Externí odkaz:
https://doaj.org/article/761b2e45e4dd4fa280b1024c64572ba2
Autor:
Marcus Keatinge, Matthew E. Gegg, Lisa Watson, Heather Mortiboys, Nan Li, Mark Dunning, Deepak Ailani, Hai Bui, Astrid van Rens, Dirk J. Lefeber, Anthony H. V. Schapira, Ryan B. MacDonald, Oliver Bandmann
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 6 (2023)
Externí odkaz:
https://doaj.org/article/2eda39a160ff472d9a32f0cc12287c6c
Autor:
Marco Toffoli, Xiao Chen, Fritz J. Sedlazeck, Chiao-Yin Lee, Stephen Mullin, Abigail Higgins, Sofia Koletsi, Monica Emili Garcia-Segura, Esther Sammler, Sonja W. Scholz, Anthony H. V. Schapira, Michael A. Eberle, Christos Proukakis
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-10 (2022)
Two methods fully resolve the GBA gene: Gauchian, a tool for short-read, whole-genome sequencing data analysis, and Oxford Nanopore sequencing after PCR enrichment. The approach improves our understanding of the relationship between GBA, Gaucher dise
Externí odkaz:
https://doaj.org/article/a0746cc364f6419ea69ad609de6e4f87
Autor:
Victoria Meslier, Elisa Menozzi, Aymeric David, Christian Morabito, Sara Lucas Del Pozo, Alexandre Famechon, Janet North, Benoit Quinquis, Sofia Koletsi, Jane Macnaughtan, Roxana Mezabrovschi, S. Dusko Ehrlich, Anthony H. V. Schapira, Mathieu Almeida
Publikováno v:
Biomolecules, Vol 13, Iss 10, p 1505 (2023)
Recent attention has highlighted the importance of oral microbiota in human health and disease, e.g., in Parkinson’s disease, notably using shotgun metagenomics. One key aspect for efficient shotgun metagenomic analysis relies on optimal microbial
Externí odkaz:
https://doaj.org/article/cacb4d37813d418484605d8e24b9b5f4
Patients with Parkinson's disease (PD) are known to suffer from motor symptoms of the disease, but they also experience non-motor symptoms (NMS) that are often present before diagnosis or that inevitably emerge with disease progression. The motor sym
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Variants in the GBA1 and LRRK2 genes are the most common genetic risk factors associated with Parkinson disease (PD). Both genes are associated with lysosomal and autophagic pathways, with the GBA1 gene encoding for the lysosomal enzyme, glucocerebro
Externí odkaz:
https://doaj.org/article/c67f63301126425d9214e5200611c5b9
Publikováno v:
Annals of Medicine, Vol 53, Iss 1, Pp 611-625 (2021)
AbstractGastrointestinal disorders are one of the most significant non-motor problems affecting people with Parkinson disease (PD). Pathogenetically, the gastrointestinal tract has been proposed to be the initial site of pathological changes in PD. I
Externí odkaz:
https://doaj.org/article/bba3ab93abc2476b8a36a9d1c38c14c6
Autor:
Electra Brunialti, Alessandro Villa, Marco Toffoli, Sara Lucas Del Pozo, Nicoletta Rizzi, Clara Meda, Adriana Maggi, Anthony H. V. Schapira, Paolo Ciana
Publikováno v:
Cells, Vol 12, Iss 3, p 343 (2023)
Microglia are heterogenous cells characterized by distinct populations each contributing to specific biological processes in the nervous system, including neuroprotection. To elucidate the impact of sex-specific microglia heterogenicity to the suscep
Externí odkaz:
https://doaj.org/article/528e324aadbc448ead48d7387437b9d3
Autor:
Diego Perez-Rodriguez, Maria Kalyva, Melissa Leija-Salazar, Tammaryn Lashley, Maxime Tarabichi, Viorica Chelban, Steve Gentleman, Lucia Schottlaender, Hannah Franklin, George Vasmatzis, Henry Houlden, Anthony H. V. Schapira, Thomas T. Warner, Janice L. Holton, Zane Jaunmuktane, Christos Proukakis
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-22 (2019)
Abstract Synucleinopathies are mostly sporadic neurodegenerative disorders of partly unexplained aetiology, and include Parkinson’s disease (PD) and multiple system atrophy (MSA). We have further investigated our recent finding of somatic SNCA (α-
Externí odkaz:
https://doaj.org/article/7ef14b0631654f92929d5d083479b9c2