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Article

The Salih ataxia mutation impairs Rubicon endosomal localization.

Cerebellum (London, England) - 1 Dec 2013

Assoum M, Salih M A, Drouot N, Hnia K, Martelli A, Koenig M

Abstract excerpt

We previously described a new form of recessive ataxia, Salih ataxia, in a large consanguineous Saudi Arabian family with three affected children carrying a new identified mutation in the KIAA0226 gene (c.2624delC; p.Ala875ValfsX146) coding for Rubicon. The pathogenicity of such mutation remains to be identified. Hence, we address the cellular impact of Rubicon p.Ala875ValfsX146 on endosomal/lysosomal machinery...

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PMID: 23728897
DOI: 10.1007/s12311-013-0489-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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