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Article

Comparison of the function of two novel human dopamine D2 receptor variants identifies a likely mechanism for their pathogenicity.

Biochemical pharmacology - 1 Oct 2024

Rodriguez-Contreras Dayana, García-Nafría Javier, Chan Amy E, Shinde Ujwal, Neve Kim A

Abstract excerpt

Two recently discovered DRD2 mutations, c.634A > T, p.Ile212Phe and c.1121T > G, p.Met374Arg, cause hyperkinetic movement disorders that have overlapping features but apparently differ in severity. The two known carriers of the Met374Arg variant had early childhood disease onset and more severe motor, cognitive, and neuropsychiatric deficits than any known carriers of the Ile212Phe variant, whose symptoms were...

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Identifiers

PMID: 38643909
DOI: 10.1016/j.bcp.2024.116228
PMCID: PMC11410538

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