SQSTM1 Mutations and Glaucoma
| العنوان: | SQSTM1 Mutations and Glaucoma |
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| المؤلفون: | Young H. Kwon, Wallace L.M. Alward, Edwin M. Stone, Frances Solivan-Timpe, Kai Wang, Kathy Miller, Ben R. Roos, Todd E. Scheetz, John H. Fingert, Adam P. DeLuca |
| المصدر: | PLoS ONE, Vol 11, Iss 6, p e0156001 (2016) PLoS ONE |
| بيانات النشر: | Public Library of Science (PLoS), 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, Eye Diseases, genetic structures, Molecular biology, Gene Identification and Analysis, lcsh:Medicine, Glaucoma, Cell Cycle Proteins, Geographical locations, Database and Informatics Methods, Sequencing techniques, 0302 clinical medicine, TANK-binding kinase 1, Transcription Factor TFIIIA, Normal tension glaucoma, Sequestosome-1 Protein, Medicine and Health Sciences, Low Tension Glaucoma, Frameshift Mutation, lcsh:Science, Exome sequencing, Optineurin, Sanger sequencing, Multidisciplinary, Cell Death, Sequence analysis, Cell Processes, symbols, Female, Anatomy, Research Article, Autophagic Cell Death, Protein Serine-Threonine Kinases, Biology, Research and Analysis Methods, Frameshift mutation, 03 medical and health sciences, symbols.namesake, Ocular System, Genetics, medicine, Humans, Mutation Detection, DNA sequence analysis, Aged, lcsh:R, Autophagy, Membrane Transport Proteins, Biology and Life Sciences, Optic Nerve, Cell Biology, medicine.disease, Iowa, United States, eye diseases, Ophthalmology, Biological Databases, Molecular biology techniques, 030104 developmental biology, Mutation, North America, Mutation Databases, lcsh:Q, sense organs, People and places, 030217 neurology & neurosurgery |
| الوصف: | 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. |
| تدمد: | 1932-6203 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a815ac4f9e9743011a2936708dc9f7deTest https://doi.org/10.1371/journal.pone.0156001Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....a815ac4f9e9743011a2936708dc9f7de |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19326203 |
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