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Article

A critical role of Hrd1 in the regulation of optineurin degradation and aggresome formation.

Human molecular genetics - 15 May 2017

Mao Jiahui, Xia Qin, Liu Chunfeng, Ying Zheng, Wang Hongfeng, Wang Guanghui

Abstract excerpt

Mutations in optineurin (OPTN) are associated with several human disorders including amyotrophic lateral sclerosis (ALS) and primary open-angle glaucoma (POAG). OPTN is known to be a multifunctional autophagy receptor that plays important roles in NF-κB signaling, vesicle trafficking, maintenance of the Golgi apparatus and autophagy. Given that a loss of neurons and an abnormal aggregation of disease proteins are...

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Identifiers

PMID: 28334804
DOI: 10.1093/hmg/ddx096

Genes

OPTN

Variants

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Related research

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Click a neighbor to travelStep 1 · 12 closest

A critical role of Hrd1 in the regulation of optineurin degradation and aggresome formation.PMID 28334804Read ↗

Role of Optineurin in the Mitochondrial Dysfunction: Potential Implications in Neurodegenerative Diseases and CancerSemantic proximity Read ↗

Mutations in the ubiquitin-binding domain of OPTN/optineurin interfere with autophagy-mediated degradation of misfolded proteins by a dominant-negative mechanism.Semantic proximity Read ↗

Functional analysis of optineurin and some of its disease-associated mutants.Semantic proximity Read ↗

Dysfunction of Optineurin in Amyotrophic Lateral Sclerosis and Glaucoma.Semantic proximity Read ↗

Ubiquitin-independent function of optineurin in autophagic clearance of protein aggregatesSemantic proximity Read ↗

Cellular Functions of Optineurin in Health and Disease.Semantic proximity Read ↗

Optineurin: A Coordinator of Membrane-Associated Cargo Trafficking and Autophagy.Semantic proximity Read ↗

Fundamental roles of the Optineurin gene in the molecular pathology of Amyotrophic Lateral SclerosisSemantic proximity Read ↗

Structural insights into the interaction and disease mechanism of neurodegenerative disease-associated optineurin and TBK1 proteins.Semantic proximity Read ↗

Defects in autophagy caused by glaucoma-associated mutations in optineurin.Semantic proximity Read ↗

Structural insights into the ubiquitin recognition by OPTN (optineurin) and its regulation by TBK1-mediated phosphorylation.Semantic proximity Read ↗

Emerging views of OPTN (optineurin) function in the autophagic process associated with diseaseSemantic proximity Read ↗

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