Article

A dominant-negative variant in the dopamine transporter PDZ-binding motif is linked to parkinsonism and neuropsychiatric disease

2020-10-12

Abstract excerpt

Dopaminergic dysfunction is central to movement disorders and mental diseases. The dopamine transporter (DAT) is essential for the regulation of extracellular dopamine but the genetic and mechanistic link between DAT function and dopamine-related pathologies remains elusive. Particularly, the pathophysiological significance of monoallelic missense mutations in DAT is unknown. Here we identify a novel coding DAT va...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 259af470-8e1c-588e-ab28-0acdf84d7a50
DOI: 10.1101/2020.10.12.336461

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A dominant-negative variant in the dopamine transporter PDZ-binding motif is linked to parkinsonism and neuropsychiatric diseaseDOI 10.1101/2020.10.12.336461Read

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

Dopamine transporter: basic science and human variation of a key molecule for dopaminergic function, locomotion, and parkinsonism.Semantic proximity Read

Dynamic control of the dopamine transporter in neurotransmission and homeostasisSemantic proximity Read

Missense dopamine transporter mutations associate with adult parkinsonism and ADHDSemantic proximity Read

Mouse model of atypical DAT deficiency syndrome uncovers dopamine dysfunction associated with parkinsonism and psychiatric diseaseSemantic proximity Read

Neuropsychiatric disease-associated genetic variants of the dopamine transporter display heterogeneous molecular phenotypes.Semantic proximity Read

Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches.Semantic proximity Read

Leaky lessons learned: Efflux prone dopamine transporter variant reveals sex and circuit specific contributions of D2 receptor signalling to neuropsychiatric diseaseSemantic proximity Read

Psychomotor Impairments and Therapeutic Implications Revealed by a Mutation Associated with Infantile Parkinsonism-DystoniaSemantic proximity Read

Characterization of a novel mouse model of Dopamine Transporter Deficiency Syndrome and pharmacological therapeutic strategiesSemantic proximity Read

Characterizing dopaminergic neuron vulnerability using genome-wide analysis.Semantic proximity Read

Unraveling correlative roles of dopamine transporter (DAT) and Parkin in Parkinson’s disease (PD) – A road to discovery?Semantic proximity Read