Knockout or inhibition of USP30 protects dopaminergic neurons in a Parkinson’s disease mouse model

Autor: Tracy-Shi Zhang Fang, Yu Sun, Andrew C. Pearce, Simona Eleuteri, Mark Kemp, Christopher A. Luckhurst, Rachel Williams, Ross Mills, Sarah Almond, Laura Burzynski, Nóra M. Márkus, Christopher J. Lelliott, Natasha A. Karp, David J. Adams, Stephen P. Jackson, Jin-Feng Zhao, Ian G. Ganley, Paul W. Thompson, Gabriel Balmus, David K. Simon

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)

Abstract Mutations in SNCA, the gene encoding α-synuclein (αSyn), cause familial Parkinson’s disease (PD) and aberrant αSyn is a key pathological hallmark of idiopathic PD. This α-synucleinopathy leads to mitochondrial dysfunction, which may dr

Externí odkaz: https://doaj.org/article/231adfbea4cd447195e9caff8d44823d

Efficacy of Deep Brain Stimulation in a Patient with Genetically Confirmed Chorea-Acanthocytosis

Autor: Alby Richard, Joey Hsu, Patricia Baum, Ron Alterman, David K. Simon

Publikováno v: Case Reports in Neurology, Vol 11, Iss 2, Pp 199-204 (2019)

Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disease due to mutation of the VPS13A gene encoding the protein chorein. ChAc is a slowly progressive disorder that typically presents in early adulthood, and whose clinical

Externí odkaz: https://doaj.org/article/9e0a0ddb04ac4dd092709b957241753a

Transportation innovation to aid Parkinson disease trial recruitment

Autor: Samuel Frank, Sarah Berk, Laura Hernandez, Penelope Hogarth, Holly A. Shill, Bernadette Siddiqi, David K. Simon

Publikováno v: Contemporary Clinical Trials Communications, Vol 16, Iss , Pp - (2019)

Among the barriers to participation in clinical trials, transportation to and from study sites may be a prominent issue. Patients with Parkinson's disease have unique circumstances that add to the barriers including dementia, loss of driving ability,

Externí odkaz: https://doaj.org/article/0f60f51d551a4450936a115d88c2e6ca

Trial of Cinpanemab in Early Parkinson's Disease

Autor: Anthony E, Lang, Andrew D, Siderowf, Eric A, Macklin, Werner, Poewe, David J, Brooks, Hubert H, Fernandez, Olivier, Rascol, Nir, Giladi, Fabrizio, Stocchi, Caroline M, Tanner, Ronald B, Postuma, David K, Simon, Eduardo, Tolosa, Brit, Mollenhauer, Jesse M, Cedarbaum, Kyle, Fraser, James, Xiao, Karleyton C, Evans, Danielle L, Graham, Inbal, Sapir, Jennifer, Inra, R Matthew, Hutchison, Minhua, Yang, Tara, Fox, Samantha, Budd Haeberlein, Tien, Dam, Laurice, Yang

Publikováno v: Lang, A E, Siderowf, A D, Macklin, E A, Poewe, W, Brooks, D J, Fernandez, H H, Rascol, O, Giladi, N, Stocchi, F, Tanner, C M, Postuma, R B, Simon, D K, Tolosa, E, Mollenhauer, B, Cedarbaum, J M, Fraser, K, Xiao, J, Evans, K C, Graham, D L, Sapir, I, Inra, J, Hutchison, R M, Yang, M, Fox, T, Budd Haeberlein, S, Dam, T & SPARK Investigators 2022, ' Trial of Cinpanemab in Early Parkinson's Disease ', The New England Journal of Medicine, vol. 387, no. 5, pp. 408-420 . https://doi.org/10.1056/NEJMoa2203395

BACKGROUND: Aggregated α-synuclein plays an important role in Parkinson's disease pathogenesis. Cinpanemab, a human-derived monoclonal antibody that binds to α-synuclein, is being evaluated as a disease-modifying treatment for Parkinson's disease.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b50a6abc4d9ecccdef2d7c021fbbee6
https://pubmed.ncbi.nlm.nih.gov/35921450

Mitochondrial DNA mutations in Parkinson's disease brain

Autor: David K. Simon, Joanne Clark Matott, Janaina Espinosa, Neeta A. Abraham

Publikováno v: Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-2 (2017)

Externí odkaz: https://doaj.org/article/7d336d6c356540a492cf8882cff7e952