ArticlePloS one2016
SQSTM1 Mutations and Glaucoma.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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Who cites it
10 citing papers in PubMed, 17 citations in OpenAlex.
- Genetic susceptibility and neuroprotective gene therapy of normal tension glaucoma: a review.Frontiers in medicine · 2026Review
- Genetics and Glaucoma: the state of the art.Frontiers in medicine · 2023Review
- Exome-based investigation of the genetic basis of human pigmentary glaucoma.BMC genomics · 2021Article
- The Role of iPSC Modeling Toward Projection of Autophagy Pathway in Disease Pathogenesis: Leader or Follower.Stem cell reviews and reports · 2021Review
- Novel IntragenicCurrent eye research · 2020Article
- Microglial Function Is Distinct in Different Anatomical Locations during Retinal Homeostasis and Degeneration.Immunity · 2019Article
- Optineurin: A Coordinator of Membrane-Associated Cargo Trafficking and Autophagy.Frontiers in immunology · 2018Review
- Genetics of glaucoma.Human molecular genetics · 2017Review
- The TBK1-OPTN Axis Mediates Crosstalk Between Mitophagy and the Innate Immune Response: A Potential Therapeutic Target for Neurodegenerative Diseases.Neuroscience bulletin · 2017Article
- Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.Neurobiology of aging · 2016Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Glaucoma is the most common cause of irreversible blindness worldwide. One subset of glaucoma, normal tension glaucoma (NTG) occurs in the absence of high intraocular pressure. Mutations in two genes, optineurin (OPTN) and TANK binding kinase 1 (TBK1), cause familial NTG and have known roles in the catabolic cellular process autophagy. TKB1 encodes a kinase that phosphorylates OPTN, an autophagy receptor, which ultimately activates autophagy. The sequestosome (SQSTM1) gene also encodes an autophagy receptor and also is a target of TBK1 phosphorylation. Consequently, we hypothesized that mutations in SQSTM1 may also cause NTG. We tested this hypothesis by searching for glaucoma-causing mutations in a cohort of NTG patients (n = 308) and matched controls (n = 157) using Sanger sequencing. An additional 1098 population control samples were also analyzed using whole exome sequencing. A total of 17 non-synonymous mutations were detected which were not significantly skewed between cases and controls when analyzed separately, or as a group (p > 0.05). These data suggest that SQSTM1 mutations are not a common cause of NTG.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.