Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Chiao-Yin Lee"'
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
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
Autor:
Micol Avenali, Marco Toffoli, Chiao-Yin Lee, Abigail Louise Higgins, Stephen Mullin, Fabio Blandini, Sofia Koletsi, Anthony H.V. Schapira
Publikováno v:
Neurodegenerative Disease Management. 11:451-458
Mutations in GBA which are causative of Gaucher disease in their biallelic form, are the most common genetic risk factor for Parkinson's disease (PD). The diagnosis of PD relies upon clinically defined motor features which appear after irreversible n
Publikováno v:
Journal of Neurochemistry. 159:826-839
The glucocerebrosidase 1 gene (GBA1), bi-allelic variants of which cause Gaucher disease (GD), encodes the lysosomal enzyme glucocerebrosidase (GCase) and is a risk factor for Parkinson Disease (PD). GBA1 variants are linked to a reduction in GCase a
Publikováno v:
Frontiers in neurology. 13
Variants in the
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. 5(1)
GBA variants carriers are at increased risk of Parkinson’s disease (PD) and Lewy body dementia (LBD). The presence of pseudogene GBAP1 predisposes to structural variants, complicating genetic analysis. We present two methods to resolve recombinant
Autor:
Monica Emili Garcia-Segura, Sonja W. Scholz, Fritz J. Sedlazeck, Xiao Chen, Marco Toffoli, Chiao-Yin Lee, Stephen Mullin, Esther Sammler, Anthony H.V. Schapira, Christos Proukakis, Michael A. Eberle, Abigail Louise Higgins, Sofia Koletsi
GBA variants cause the autosomal recessive Gaucher disease, and carriers are at increased risk of Parkinson’s disease (PD) and Lewy body dementia (LBD). The presence of a highly homologous nearby pseudogene (GBAP1) predisposes to a range of structu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f33b3d977057213a9ce22e91dece8a9
https://doi.org/10.1101/2021.11.12.21266253
https://doi.org/10.1101/2021.11.12.21266253
Autor:
Sofia Koletsi, Fabio Blandini, Micol Avenali, Marco Toffoli, Stephen Mullin, Chiao-Yin Lee, Anthony H.V. Schapira, Abigail Louise Higgins
Mutations in GBA which are causative of Gaucher disease in their biallelic form, are the most common genetic risk factor for Parkinson disease. The diagnosis of Parkinson disease relies upon clinically defined motor features which appear after irreve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::38ed2a184719425bf7affb5831693402
https://doi.org/10.1101/2021.07.21.21260533
https://doi.org/10.1101/2021.07.21.21260533
Publikováno v:
Frontiers in Neurology; 8/12/2022, Vol. 16, p01-15, 15p