Dataset Information
Single particle analysis datasets of in vitro grown aSyn filaments
Ontology highlight
ABSTRACT:
SUBMITTER: Kevin Sicking
PROVIDER: EMPIAR-12518 | biostudies-other |
REPOSITORIES: biostudies-other
Publications
A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features.
medRxiv : the preprint server for health sciences 20250207
<h4>Background</h4>Parkinson's disease (PD) affects millions of people worldwide, but only 5-10% of patients suffer from a monogenic form of the disease with Mendelian inheritance. <i>SNCA</i>, the gene encoding for the protein alpha-synuclein (aSyn), was the first to be associated with familial forms of PD and, since then, several missense variants and multiplications of the <i>SNCA</i> gene have been established as rare causes of autosomal dominant forms of PD.<h4>Aim and methods</h4>A patient ...[more]