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Article

Viral vector-mediated SLC9A6 gene replacement reduces cerebellar motor and molecular abnormalities in the shaker rat model of Christianson syndrome.

Human molecular genetics - 23 Mar 2026

Anderson Collin J, Figueroa Karla P, Paul Sharan, Gandelman Mandi, Dansithong Warunee, Katakowski Joseph A, Scoles Daniel R, Pulst Stefan M

Abstract excerpt

BACKGROUND: Christianson syndrome is an x-linked recessive neurodevelopmental and neurodegenerative condition caused by mutations to the SLC9A6 gene encoding NHE6, a sodium-hydrogen exchanger critical for regulating endosomal pH. Using an adeno-associated viral (AAV) vector targeting Purkinje cells (PHP.eB-L7-Slc9a6-GFP), we recently performed functional complementation studies to demonstrate that mutation to the...

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Identifiers

PMID: 41934608
DOI: 10.1093/hmg/ddag021
PMCID: PMC13050144

Genes

SLC9A6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Viral vector-mediated SLC9A6 gene replacement reduces cerebellar motor and molecular abnormalities in the shaker rat model of Christianson syndrome.PMID 41934608Read ↗

Viral vector-mediated <i>SLC9A6</i> gene replacement reduces cerebellar dysfunction in the <i>shaker</i> rat model of Christianson syndromeSemantic proximity Read ↗

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