A central hallmark of Parkinson's disease (PD) is the spread of -Synuclein (-Syn) aggregates, which is thought to contribute to its progressive nature. To better understand the mechanism of cellular internalization of -Syn fibrils, we conducted a genome wide CRISPR activation (CRISPRa) screen to identify genetic modifi...
N. Karpilovsky, T. Goiran, K. Senkevich et al.· medRxiv· 0 citations
Recent evidence suggests that TMEM106B expression is reduced in the brains of patients with Parkinson's disease (PD). However, an association between rare genetic variants in TMEM106B and PD risk has not been previously established. In this work, we investigated the association between rare TMEM106B variants and PD ris...
H. M. Chaparro Solano, S. Kanagasingam, Z. Gan-Or et al.· medRxiv· 0 citations
Background An X-linked levodopa-responsive parkinsonism-epilepsy syndrome has been associated with PGK1, and the gene lies within the previously suspected PD locus PARK12. Objective To examine the association of common and rare PGK1 variants with PD. Methods We analyzed common and rare variants from Accelerated Medicin...
L. V. Chifamba, S. C. Parlar, L. Liu et al.· medRxiv· 0 citations
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