Cargando…

SQSTM1 Mutations and Glaucoma

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...

Descripción completa

Detalles Bibliográficos
Autores principales:	Scheetz, Todd E., Roos, Ben R., Solivan-Timpe, Frances, Miller, Kathy, DeLuca, Adam P., Stone, Edwin M., Kwon, Young H., Alward, Wallace L. M., Wang, Kai, Fingert, John H.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898711/ https://www.ncbi.nlm.nih.gov/pubmed/27275741 http://dx.doi.org/10.1371/journal.pone.0156001

Ejemplares similares

Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma
por: Mao, Mao, et al.
Publicado: (2012)

LADD syndrome with glaucoma is caused by a novel gene
por: Simpson, Allie, et al.
Publicado: (2017)

Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos
por: Khorram, David, et al.
Publicado: (2015)

Duplication of TBK1 Stimulates Autophagy in iPSC-derived Retinal Cells from a Patient with Normal Tension Glaucoma
por: Tucker, Budd A., et al.
Publicado: (2014)

Evaluation of variants in the selectin genes in age-related macular degeneration
por: Mullins, Robert F, et al.
Publicado: (2011)

Exome-based investigation of the genetic basis of human pigmentary glaucoma
por: van der Heide, Carly, et al.
Publicado: (2021)

Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort
por: Kuehn, Markus H., et al.
Publicado: (2011)

Assessment of SNPs associated with the human glucocorticoid receptor in primary open-angle glaucoma and steroid responders
por: Fingert, John H., et al.
Publicado: (2010)

A Genome-Wide Association Study for Primary Open Angle Glaucoma and Macular Degeneration Reveals Novel Loci
por: Scheetz, Todd E., et al.
Publicado: (2013)

Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy
por: Rosenberg, Thomas, et al.
Publicado: (2010)

Optical Coherence Tomography Analysis Based Prediction of Humphrey 24-2 Visual Field Thresholds in Patients With Glaucoma
por: Guo, Zhihui, et al.
Publicado: (2017)

SQSTM1 mutation: Description of the first Tunisian case and literature review
por: Akkari, M., et al.
Publicado: (2020)

Corrigendum: Automated Axon Counting in Rodent Optic Nerve Sections with AxonJ
por: Zarei, Kasra, et al.
Publicado: (2016)

Automated Axon Counting in Rodent Optic Nerve Sections with AxonJ
por: Zarei, Kasra, et al.
Publicado: (2016)

Genetic Association between MMP9 and Choroidal Neovascularization in Age-Related Macular Degeneration
por: Sohn, Elliott H., et al.
Publicado: (2021)

Polygenic Risk Score Improves Prediction of Primary Open Angle Glaucoma Onset in the Ocular Hypertension Treatment Study
por: Singh, Rishabh K., et al.
Publicado: (2023)

Alpha-gal syndrome (AGS) in a glaucoma suspect with narrow iridocorneal angles
por: Tejan-Kamara, Aminatta Z., et al.
Publicado: (2023)

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in Southern India
por: Sundaresan, Periasamy, et al.
Publicado: (2009)

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
por: van der Zee, Julie, et al.
Publicado: (2014)

ZZ-dependent regulation of p62/SQSTM1 in autophagy
por: Zhang, Yi, et al.
Publicado: (2018)

Single-Cell RNA Sequencing in Human Retinal Degeneration Reveals Distinct Glial Cell Populations
por: Voigt, Andrew P., et al.
Publicado: (2020)

Sqstm1–GFP knock-in mice reveal dynamic actions of Sqstm1 during autophagy and under stress conditions in living cells
por: Eino, Atsushi, et al.
Publicado: (2015)

Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis
por: Pytte, Julia, et al.
Publicado: (2020)

Using Goldmann Visual Field Volume to Track Disease Progression in Choroideremia
por: DeLuca, Adam P., et al.
Publicado: (2023)

Human photoreceptor cells from different macular subregions have distinct transcriptional profiles
por: Voigt, Andrew P, et al.
Publicado: (2021)

A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation
por: Boutoleau-Bretonnière, Claire, et al.
Publicado: (2015)

Molecular test of Paget's disease of bone in families not linked to SQSTM1 gene mutations
por: You, Yang, et al.
Publicado: (2023)

A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus)
por: Kuehn, Markus H., et al.
Publicado: (2016)

p62/SQSTM1 synergizes with autophagy for tumor growth in vivo
por: Wei, Huijun, et al.
Publicado: (2014)

Association of p62/SQSTM1 Excess and Oral Carcinogenesis
por: Inui, Takuma, et al.
Publicado: (2013)

The higher-order molecular organization of p62/SQSTM1
por: Johansen, Terje, et al.
Publicado: (2015)

AMBRA1 and SQSTM1 expression pattern in prostate cancer
por: Falasca, Laura, et al.
Publicado: (2015)

p62/Sqstm1 rescue in muscle retards the progression of steatohepatitis in p62/Sqstm1-null mice fed a high-fat diet
por: Miura, Ikuru, et al.
Publicado: (2022)

Correction: A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus)
por: Kuehn, Markus H., et al.
Publicado: (2016)

Detection of SQSTM1/P392L post-zygotic mutations in Paget’s disease of bone
por: Guay-Bélanger, Sabrina, et al.
Publicado: (2014)

ALS-FTLD associated mutations of SQSTM1 impact on Keap1-Nrf2 signalling
por: Goode, Alice, et al.
Publicado: (2016)

Frameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report
por: Wu, Rui, et al.
Publicado: (2023)

Preconditioning Involves Selective Mitophagy Mediated by Parkin and p62/SQSTM1
por: Huang, Chengqun, et al.
Publicado: (2011)

NBR1 is dispensable for PARK2-mediated mitophagy regardless of the presence or absence of SQSTM1
por: Shi, J, et al.
Publicado: (2015)

Nanophthalmos patient with a THR518MET mutation in MYRF, a case report
por: Hagedorn, Joshua, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_b16nek625qg6t4iu897jfqi0g2