Identifying dominant-negative actions of a dopamine transporter variant in patients with parkinsonism and neuropsychiatric disease.

doi:10.1172/jci.insight.151496

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Article

Identifying dominant-negative actions of a dopamine transporter variant in patients with parkinsonism and neuropsychiatric disease.

JCI insight - 22 Sept 2021

Herborg Freja, Jensen Kathrine L, Tolstoy Sasha, Arends Natascha V, Posselt Leonie P, Shekar Aparna, Aguilar Jenny I, Lund Viktor K, Erreger Kevin, Rickhag Mattias, Lycas Matthew D, Lonsdale Markus N, Rahbek-Clemmensen Troels, Sørensen Andreas T, Newman Amy H, Løkkegaard Annemette, Kjærulff Ole, Werge Thomas, Møller Lisbeth B, Matthies Heinrich Jg, Galli Aurelio, Hjermind Lena E, Gether Ulrik

Abstract excerpt

Dysfunctional dopaminergic neurotransmission is central to movement disorders and mental diseases. The dopamine transporter (DAT) regulates extracellular dopamine levels, but the genetic and mechanistic link between DAT function and dopamine-related pathologies is not clear. Particularly, the pathophysiological significance of monoallelic missense mutations in DAT is unknown. Here, we use clinical information,...

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PMID: 34375312
DOI: 10.1172/jci.insight.151496
PMCID: PMC8492322

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