期刊
CEREBELLUM
卷 12, 期 6, 页码 835-840出版社
SPRINGER
DOI: 10.1007/s12311-013-0489-4
关键词
Salih ataxia; Rubicon; Rab7; DAG binding-like motif
资金
- Institut National de la Sante et de la Recherche Medicale (INSERM)
- Center National de la Recherche Scientifique (CNRS)
- Agence Nationale pour la Recherche-Maladies Rares and Maladies Neurologiques et Psychiatriques [ANR-09-MNPS-001-01]
- Association Francaise contre les Myopathies (AFM)
- CMRC [05-495]
- College of Medicine, King Saud University, Riyadh, Saudi Arabia
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 on cultured cells. We confirm that Rubicon colocalizes with the late endosome marker Rab7 and demonstrate that it also colocalizes with LampI at lysosomes. The Salih ataxia mutation leads to a diffuse cytosolic distribution and mislocalized protein from the late endosomes, indicating that deletion of the diacylglycerol binding-like motif in the mutant protein interferes with normal Rubicon subcellular localization and confirming the pathogenicity of the mutation.
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