9HGR

In vitro grown WT Alpha-Synuclein Fibrils

9HGR の概要

• エントリーDOI: 10.2210/pdb9hgr/pdb
• 関連するPDBエントリー: 9HGS
• EMDBエントリー: 52165
• 分子名称: Alpha-synuclein (1 entity in total)
• 機能のキーワード: alpha-synuclein, g14r mutation, fibrils, cryo-em, protein aggregation, amyloid structure, protein fibril
• 由来する生物種: Homo sapiens (human)
• タンパク質・核酸の鎖数: 2
• 化学式量合計: 28952.22

構造登録者

Sicking, K.,Al-Azzani, M.,Outeiro, T.F.,Fernandez-Busnadiego, R. (登録日: 2024-11-20, 公開日: 2025-01-29, 最終更新日: 2025-10-08)

主引用文献

Brucke, C.,Al-Azzani, M.,Ramalingam, N.,Ramon, M.,Sousa, R.L.,Buratti, F.,Zech, M.,Sicking, K.,Amaral, L.,Gelpi, E.,Chandran, A.,Agarwal, A.,Chaves, S.R.,Fernandez, C.O.,Dettmer, U.,Lautenschlager, J.,Zweckstetter, M.,Busnadiego, R.F.,Zimprich, A.,Outeiro, T.F.
A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features.
Mol Neurodegener, 20:98-98, 2025

PubMed Abstract: Parkinson's disease (PD) affects millions of people worldwide, but only 5-10% of patients suffer from a monogenic forms of the disease with Mendelian inheritance. SNCA, 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 gene have been established as rare causes of autosomal dominant forms of PD. In this study, we report the identification of a novel SNCA mutation in a patient that presented with a complex neurogenerative disorder, and unconventional neuropathological findings. We also performed in depth molecular studies of the effects of the novel aSyn mutation.

PubMed: 41013605
DOI: 10.1186/s13024-025-00889-y

実験手法

ELECTRON MICROSCOPY (2.7 Å)