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Your search keyword '"Victoria Berge-Seidl"' showing total 2 results
Start Over Author "Victoria Berge-Seidl" Publisher elsevier
2 results on '"Victoria Berge-Seidl"'

1. Contributors

Author

Gelareh Alam, C.M. Albino, Quincy J. Almeida, Guido W. Alves, Ryan S. Anderton, Kryspin Andrzejewski, Sarah J. Annesley, Andreas Aufschnaiter, Annelise Ayres, Victoria Berge-Seidl, Agustina Birba, Yamile Bocanegra, Patricia A. Broderick, Luigi Bubacco, Sabrina Büttner, Emanuel Candeias, Sandra Morais Cardoso, Abdeslam Chagraoui, Wei-Hua Chiu, Susanna Cogo, José Eduardo Corrente, Helena Costa, Philippe De Deurwaerdère, Hellio Danny Nóbrega de Souza, Flávia W.C. Dorieux, Ana Raquel Esteves, Juliane Fagotti, Paul R. Fisher, Adolfo M. García, Pablo Garrido-Gil, Nikolaos Giagkou, Joshua A. Goldberg, Elisa Greggio, Giusy Guzzi, Liting Hang, Kenneth M. Heilman, Dr. Ravikumar Hosamani, Xiaoping P. Hu, Daniel E. Huddleston, Agustín Ibáñez, Jessica L. Ilkiw, Kiyoharu Inoue, Chi Wang Ip, Marlene Jimenez-Del-Rio, Katarzyna Kaczyńska, Jade Kenna, Eung Yeop Kim, Ryan B. Kochanski, Verena Kohler, Jéssica Emy Komuro, James B. Koprich, Chistos Koros, Hiroshi Kunugi, Katarzyna Kuter, Jose Luis Labandeira-Garcia, Carmen M. Labandeira, Jason Langley, Elisabetta Lauretti, Angelo Lavano, Jongho Lee, Kah-Leong Lim, Marcelo M.S. Lima, João Duarte Magalhães, John Mitrofanis, Simon G. Møller, Katelyn H. Mroczek, Thomas Musacchio, Vanessa J. Musco, Ruth E. Musgrove, Ana Carolina D. Noseda, Kazunori O'Hashi, Maira Rozenfeld Olchik, Ágatha Oliveira-Giacomelli, Juan Rafael Orozco-Arroyave, Marina Padovani, Silvia Justina Papini, Vinood B. Patel, Ketan S. Patil, Maria A. Pedrosa, Domenico Praticò, Victor R. Preedy, Emilie Puginier, Joan Anton Puig-Butillé, Susana Puig, Rajkumar Rajendram, Jason R. Richardson, Lais S. Rodrigues, Ana I. Rodriguez-Perez, Benjamin Rosen, Sepehr Sani, Daniel Santos, Arthur Oscar Schelp, Norbert Schuff, Lucas Sedeño, Diana F. Silva, Athina-Maria Simitsi, Kazuhiro Sohya, Maria Stamelou, Leonidas Stefanis, Young Hee Sung, Adriano D.S. Targa, Gemma Tell-Marti, Mathias Toft, Svetlana Tomic, Attilio Della Torre, Domenico La Torre, Duygu Tosun, Henning Ulrich, Tatiana Varanita, Carlos Velez-Pardo, Mattia Volta, Tateo Warabi, Leslie Wenning, I-Wei Wu, Yulan Xiong, Nobuo Yanagisawa, Jianzhong Yu, Yu Zhang, and Fu-Ming Zhou

Published
2020
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2. Linking glucocerebrosidase gene (GBA) variants and Parkinson's disease

Author

Mathias Toft and Victoria Berge-Seidl

Subjects
Parkinsonian Symptoms, Parkinson's disease, business.industry, Immunology, Medicine, Disease, Genetic risk, business, medicine.disease, Pathological, Glucocerebrosidase, Rapid disease progression, Gene
Abstract

A deficiency of the enzyme glucocerebrosidase, encoded by the glucocerebrosidase gene (GBA), causes the lysosomal storage disorder Gaucher's disease (GD). The observation that some GD patients and their relatives had parkinsonian symptoms inspired investigations into GBA in Parkinson's disease (PD). GBA mutations are established as important genetic risk factors for developing PD and may also affect the clinical characteristics. PD patients with GBA mutations tend to have an earlier age at onset, more rapid disease progression, and a larger burden of non-motor symptoms. Interestingly, glucocerebrosidase has been shown to interact closely with α-synuclein, a protein known to aggregate with pathological inclusions in PD. Experimental evidence from cellular and animal models suggests that increasing glucocerebrosidase activity can reduce the accumulation of α-synuclein. The link between GBA and PD has opened up novel therapeutic strategies and may be the first genetic discovery translating into therapy for PD patients.

Published
2020
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