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 |
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| container_start_page | 106973 |
| container_title | Parkinsonism & related disorders |
| container_volume | 123 |
| creator | Pilotto, Andrea Carini, Mattia Lupini, Alessandro di Fonzo, Alessio Monti, Eugenio Bresciani, Roberto Padovani, Alessandro Biasiotto, Giorgio |
| description | •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. |
| doi_str_mv | 10.1016/j.parkreldis.2024.106973 |
| format | Article |
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| ispartof | Parkinsonism & related disorders, 2024-06, Vol.123, p.106973-106973, Article 106973 |
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| language | eng |
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| source | ScienceDirect Journals (5 years ago - present) |
| title | The p.Val234Met LRP10 likely pathogenic variant associated with Parkinson's disease: Possible molecular implications |
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