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Article

Role of ALS-associated OPTN-K489E mutation in neuronal cell-death regulation.

Molecular and cellular neurosciences - 1 Dec 2023

Mishra Dibyakanti, Narain Priyam, Dave Upma, Gomes James

Abstract excerpt

Optineurin (OPTN) gene is a marker of amyotrophic lateral sclerosis (ALS). However, the role of optineurin protein (OPTN) in ALS pathology is unclear, even though it is known to regulate autophagy, apoptosis, and other survival-death cellular processes. Genetic analysis of Indian ALS patients by our group ascertained a novel mutation K489E in the OPTN gene. To identify the molecular mechanism associated with OPTN...

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Identifiers

PMID: 37918554
DOI: 10.1016/j.mcn.2023.103904

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Role of ALS-associated OPTN-K489E mutation in neuronal cell-death regulation.PMID 37918554Read ↗

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A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro.Semantic proximity Read ↗

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A glaucoma- and ALS-associated mutant of OPTN induces neuronal cell death dependent on Tbk1 activity, autophagy and ER stress.Semantic proximity Read ↗

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