Article
Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.
International journal of molecular sciences - 25 Jun 2022
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
Abstract excerpt
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 susceptibility to PD. A typical PD family was identified and whole-exome sequencing was performed in two affected siblings....
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