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Article

Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat.

Human molecular genetics - 5 May 2023

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

Abstract excerpt

The shaker rat carries a naturally occurring mutation leading to progressive ataxia characterized by Purkinje cell (PC) loss. We previously reported on fine-mapping the shaker locus to the long arm of the rat X chromosome. In this work, we sought to identify the mutated gene underlying the shaker phenotype and confirm its identity by functional complementation. We fine-mapped the candidate region and analyzed...

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Identifiers

PMID: 36621975
DOI: 10.1093/hmg/ddad004
PMCID: PMC10162436

Provenance

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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