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Article

The human cognition-enhancing CORD7 mutation increases active zone number and synaptic release.

Brain : a journal of neurology - 21 Nov 2022

Paul Mila M, Dannhäuser Sven, Morris Lydia, Mrestani Achmed, Hübsch Martha, Gehring Jennifer, Hatzopoulos Georgios N, Pauli Martin, Auger Genevieve M, Bornschein Grit, Scholz Nicole, Ljaschenko Dmitrij, Müller Martin, Sauer Markus, Schmidt Hartmut, Kittel Robert J, DiAntonio Aaron, Vakonakis Ioannis, Heckmann Manfred, Langenhan Tobias

Abstract excerpt

Humans carrying the CORD7 (cone-rod dystrophy 7) mutation possess increased verbal IQ and working memory. This autosomal dominant syndrome is caused by the single-amino acid R844H exchange (human numbering) located in the 310 helix of the C2A domain of RIMS1/RIM1 (Rab3-interacting molecule 1). RIM is an evolutionarily conserved multi-domain protein and essential component of presynaptic active zones, which is...

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Identifiers

PMID: 35022694
DOI: 10.1093/brain/awac011

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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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The human cognition-enhancing CORD7 mutation increases active zone number and synaptic release.PMID 35022694Read ↗

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