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Article

Chorea-related mutations in PDE10A result in aberrant compartmentalization and functionality of the enzyme.

Proceedings of the National Academy of Sciences of the United States of America - 7 Jan 2020

Tejeda Gonzalo S, Whiteley Ellanor L, Deeb Tarek Z, Bürli Roland W, Moss Stephen J, Sheridan Eamonn, Brandon Nicholas J, Baillie George S

Abstract excerpt

A robust body of evidence supports the concept that phosphodiesterase 10A (PDE10A) activity in the basal ganglia orchestrates the control of coordinated movement in human subjects. Although human mutations in the PDE10A gene manifest in hyperkinetic movement disorders that phenocopy many features of early Huntington's disease, characterization of the maladapted molecular mechanisms and aberrant signaling...

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Identifiers

PMID: 31871190
DOI: 10.1073/pnas.1916398117
PMCID: PMC6955301

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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