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Article

N471D WASH complex subunit strumpellin knock-in mice display mild motor and cardiac abnormalities and BPTF and KLHL11 dysregulation in brain tissue.

Neuropathology and applied neurobiology - 1 Feb 2022

Clemen Christoph S, Schmidt Andreas, Winter Lilli, Canneva Fabio, Wittig Ilka, Becker Lore, Coras Roland, Berwanger Carolin, Hofmann Andreas, Eggers Britta, Marcus Katrin, Gailus-Durner Valerie, Fuchs Helmut, de Angelis Martin Hrabe, Krüger Marcus, von Hörsten Stephan, Eichinger Ludwig, Schröder Rolf

Abstract excerpt

AIMS: We investigated N471D WASH complex subunit strumpellin (Washc5) knock-in and Washc5 knock-out mice as models for hereditary spastic paraplegia type 8 (SPG8). METHODS: We generated heterozygous and homozygous N471D Washc5 knock-in mice and subjected them to a comprehensive clinical, morphological and laboratory parameter screen, and gait analyses. Brain tissue was used for proteomic analysis. Furthermore, we...

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Identifiers

PMID: 34312900
DOI: 10.1111/nan.12750

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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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