Variant‐specific effects of GBA1 mutations on dopaminergic neuron proteostasis

Glucocerebrosidase 1 (GBA1) mutations are the most important genetic risk factors for Parkinson's disease (PD). Clinically, mild (e.g., p.N370S) and severe (e.g., p.L444P and p.D409H) GBA1 mutations have different PD phenotypes, with differences in age at disease onset, progression, and the sev...

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Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Onal, G, Yalçın‐Çakmaklı, G, Özçelik, CE, Boussaad, I, Şeker, UÖŞ, Fernandes, HJR, Demir, H, Krüger, R, Elibol, B, Dökmeci, S, Salman, MM
Формат: Journal article
Хэл сонгох:English
Хэвлэсэн: Wiley 2024