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Article

Effects of mutations and deletions in the human optineurin gene

19 Feb 2014

Abstract excerpt

Optineurin is a gene associated with normal tension glaucoma (NTG) and amyotrophic lateral sclerosis (ALS). Foci formation and functional consequences including Golgi fragmentation, impairment of vesicle trafficking and apoptosis were observed previously upon overexpression and/or mutation of optineurin. In the current study, a total of 15 GFP tagged constructs that included NTG (E50K and 2 bp-AG insertion), ALS...

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PMID: 24683533
DOI: 10.1186/2193-1801-3-99

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Effects of mutations and deletions in the human optineurin genePMID 24683533Read ↗

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Optineurin Increases Cell Survival and Translocates to the Nucleus in a Rab8-dependent Manner upon an Apoptotic StimulusSemantic proximity Read ↗

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