The p.Val234Met LRP10 likely pathogenic variant associated with Parkinson's disease: Possible molecular implications

The p.Val234Met LRP10 likely pathogenic variant associated with Parkinson's disease: Possible molecular implications

•LRP10 pathogenic variants are associated with Parkinson's Disease.•The report presents a PD patient carrying an heterozygous p.Val234Met LRP10 likely pathogenic variant.•LRP10 might impact on alpha-synuclein internalisation and deposition.

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Veröffentlicht in:Parkinsonism & related disorders 2024-06, Vol.123, p.106973-106973, Article 106973
Hauptverfasser: Pilotto, Andrea, Carini, Mattia, Lupini, Alessandro, di Fonzo, Alessio, Monti, Eugenio, Bresciani, Roberto, Padovani, Alessandro, Biasiotto, Giorgio
Format: Artikel
Sprache:eng
Schlagworte:
Female
Humans
LDL-Receptor Related Proteins - genetics
Male
Parkinson Disease - genetics
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Beschreibung
Zusammenfassung:•LRP10 pathogenic variants are associated with Parkinson's Disease.•The report presents a PD patient carrying an heterozygous p.Val234Met LRP10 likely pathogenic variant.•LRP10 might impact on alpha-synuclein internalisation and deposition.
ISSN:1353-8020
1873-5126
DOI:10.1016/j.parkreldis.2024.106973