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Article

Brunner syndrome associated MAOA mutations result in NMDAR hyperfunction and increased network activity in human dopaminergic neurons.

Neurobiology of disease - 1 Feb 2022

van Rhijn Jon-Ruben, Shi Yan, Bormann Maren, Mossink Britt, Frega Monica, Recaioglu Hatice, Hakobjan Marina, Klein Gunnewiek Teun, Schoenmaker Chantal, Palmer Elizabeth, Faivre Laurence, Kittel-Schneider Sarah, Schubert Dirk, Brunner Han, Franke Barbara, Nadif Kasri Nael

Abstract excerpt

Monoamine neurotransmitter abundance affects motor control, emotion, and cognitive function and is regulated by monoamine oxidases. Among these, Monoamine oxidase A (MAOA) catalyzes the degradation of dopamine, norepinephrine, and serotonin into their inactive metabolites. Loss-of-function mutations in the X-linked MAOA gene have been associated with Brunner syndrome, which is characterized by various forms of...

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Identifiers

PMID: 34923109
DOI: 10.1016/j.nbd.2021.105587

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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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