Ontology highlight
ABSTRACT:
SUBMITTER: Di Leva F
PROVIDER: S-EPMC9916293 | biostudies-literature | 2023 Jan
REPOSITORIES: biostudies-literature
Di Leva Francesca F Filosi Michele M Oyston Lisa L Silvestri Erica E Picard Anne A Lavdas Alexandros A AA Lobbestael Evy E Baekelandt Veerle V Neely G Gregory GG Pramstaller Peter P PP Hicks Andrew A AA Corti Corrado C
International journal of molecular sciences 20230119 3
Autosomal dominant mutations in the gene encoding α-synuclein (<i>SNCA</i>) were the first to be linked with hereditary Parkinson's disease (PD). Duplication and triplication of <i>SNCA</i> has been observed in PD patients, together with mutations at the N-terminal of the protein, among which A30P and A53T influence the formation of fibrils. By overexpressing human α-synuclein in the neuronal system of <i>Drosophila</i>, we functionally validated the ability of <i>IP3K2</i>, an ortholog of the G ...[more]