Cathepsin B p.Gly284Val Variant in Parkinson’s Disease Pathogenesis

Parkinson’s disease (PD) is generally considered a sporadic disorder, but a strong genetic background is often found. The aim of this study was to identify the underlying genetic cause of PD in two affected siblings and to subsequently assess the role of mutations in Cathepsin B (CTSB) in susceptibi...

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Detalles Bibliográficos
Autores principales: Milanowski, Lukasz M., Hou, Xu, Bredenberg, Jenny M., Fiesel, Fabienne C., Cocker, Liam T., Soto-Beasley, Alexandra I., Walton, Ronald L., Strongosky, Audrey J., Faroqi, Ayman H., Barcikowska, Maria, Boczarska-Jedynak, Magdalena, Dulski, Jaroslaw, Fedoryshyn, Lyuda, Janik, Piotr, Potulska-Chromik, Anna, Karpinsky, Katherine, Krygowska-Wajs, Anna, Lynch, Tim, Olszewska, Diana A., Opala, Grzegorz, Pulyk, Aleksander, Rektorova, Irena, Sanotsky, Yanosh, Siuda, Joanna, Widlak, Mariusz, Slawek, Jaroslaw, Rudzinska-Bar, Monika, Uitti, Ryan, Figura, Monika, Szlufik, Stanislaw, Rzonca-Niewczas, Sylwia, Podgorska, Elzbieta, McLean, Pamela J., Koziorowski, Dariusz, Ross, Owen A., Hoffman-Zacharska, Dorota, Springer, Wolfdieter, Wszolek, Zbigniew K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266886/
https://www.ncbi.nlm.nih.gov/pubmed/35806091
http://dx.doi.org/10.3390/ijms23137086

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266886/
https://www.ncbi.nlm.nih.gov/pubmed/35806091
http://dx.doi.org/10.3390/ijms23137086

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