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

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 <i>(CTSB)</...

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Bibliographic Details
Main Authors: Lukasz M. Milanowski, Xu Hou, Jenny M. Bredenberg, Fabienne C. Fiesel, Liam T. Cocker, Alexandra I. Soto-Beasley, Ronald L. Walton, Audrey J. Strongosky, Ayman H. Faroqi, Maria Barcikowska, Magdalena Boczarska-Jedynak, Jaroslaw Dulski, Lyuda Fedoryshyn, Piotr Janik, Anna Potulska-Chromik, Katherine Karpinsky, Anna Krygowska-Wajs, Tim Lynch, Diana A. Olszewska, Grzegorz Opala, Aleksander Pulyk, Irena Rektorova, Yanosh Sanotsky, Joanna Siuda, Mariusz Widlak, Jaroslaw Slawek, Monika Rudzinska-Bar, Ryan Uitti, Monika Figura, Stanislaw Szlufik, Sylwia Rzonca-Niewczas, Elzbieta Podgorska, Pamela J. McLean, Dariusz Koziorowski, Owen A. Ross, Dorota Hoffman-Zacharska, Wolfdieter Springer, Zbigniew K. Wszolek
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:International Journal of Molecular Sciences
Subjects:
Parkinson’s disease
familial forms
monogenic forms
CTSB
fibroblasts
Online Access:https://www.mdpi.com/1422-0067/23/13/7086

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