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Article

Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson's disease.

Scientific reports - 10 May 2021

Pérez-Santamarina Estela, García-Ruiz Pedro, Martínez-Rubio Dolores, Ezquerra Mario, Pla-Navarro Irene, Puente Jorge, Martí María José, Palau Francesc, Hoenicka Janet

Abstract excerpt

Parkinson's disease (PD) is characterized by cerebral dopamine depletion that causes motor and cognitive deficits. The dopamine-related gene ANKK1 has been associated with neuropsychiatric disorders with a dopaminergic deficiency in the striatum. This study aims to define the contribution of ANKK1 rare variants in PD. We found in 10 out of 535 PD patients 6 ANKK1 heterozygous rare alleles located at the 5'UTR,...

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Identifiers

PMID: 33972609
DOI: 10.1038/s41598-021-89300-6
PMCID: PMC8110570

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