Cargando…

The F220C and F45L rhodopsin mutations identified in retinitis pigmentosa patients do not cause pathology in mice

Retinitis pigmentosa is a retinal degenerative disease that leads to blindness through photoreceptor loss. Rhodopsin is the most frequently mutated protein in this disease. While many rhodopsin mutations have well-understood consequences that lead to cell death, the disease association of several rh...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lewis, Tylor R., Shores, Camilla R., Cady, Martha A., Hao, Ying, Arshavsky, Vadim Y., Burns, Marie E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200662/ https://www.ncbi.nlm.nih.gov/pubmed/32371886 http://dx.doi.org/10.1038/s41598-020-64437-y

Ejemplares similares

Unusual mode of dimerization of retinitis pigmentosa-associated F220C rhodopsin
por: Khelashvili, George, et al.
Publicado: (2021)

Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants
por: Ploier, Birgit, et al.
Publicado: (2016)

Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa
por: Kim, Kwang Joong, et al.
Publicado: (2011)

Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa
por: Yang, Guoxing, et al.
Publicado: (2014)

Gene Therapy for Rhodopsin-associated Autosomal Dominant Retinitis Pigmentosa
por: Massengill, Michael T., et al.
Publicado: (2021)

Assessing the correlation between mutant rhodopsin stability and the severity of retinitis pigmentosa
por: McKeone, Richard, et al.
Publicado: (2014)

The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa
por: Athanasiou, Dimitra, et al.
Publicado: (2017)

Flavonoid allosteric modulation of mutated visual rhodopsin associated with retinitis pigmentosa
por: Herrera-Hernández, María Guadalupe, et al.
Publicado: (2017)

Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin
por: Jung, Young Hoon, et al.
Publicado: (2023)

Pharmacological strategies for treating misfolded rhodopsin-associated autosomal dominant retinitis pigmentosa
por: Xi, Yibo, et al.
Publicado: (2021)

Nonretinoid chaperones improve rhodopsin homeostasis in a mouse model of retinitis pigmentosa
por: Vats, Abhishek, et al.
Publicado: (2022)

The heat-shock response co-inducer arimoclomol protects against retinal degeneration in rhodopsin retinitis pigmentosa
por: Parfitt, D A, et al.
Publicado: (2014)

Zinc-finger-based transcriptional repression of rhodopsin in a model of dominant retinitis pigmentosa
por: Mussolino, Claudio, et al.
Publicado: (2011)

Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa
por: Ando, Yuichiro, et al.
Publicado: (2007)

Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations
por: Jacobson, Samuel G., et al.
Publicado: (2016)

CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin
por: Kaukonen, Maria, et al.
Publicado: (2022)

Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa
por: Ballios, Brian G., et al.
Publicado: (2021)

Investigating the Role of Rhodopsin F45L Mutation in Mouse Rod Photoreceptor Signaling and Survival
por: Poria, Deepak, et al.
Publicado: (2023)

Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa
por: Yu, Xinping, et al.
Publicado: (2016)

PERK prevents rhodopsin degradation during retinitis pigmentosa by inhibiting IRE1-induced autophagy
por: Zhao, Ning, et al.
Publicado: (2023)

Acute and Protracted Cell Death in Light-Induced Retinal Degeneration in the Canine Model of Rhodopsin Autosomal Dominant Retinitis Pigmentosa
por: Sudharsan, Raghavi, et al.
Publicado: (2017)

highroad Is a Carboxypetidase Induced by Retinoids to Clear Mutant Rhodopsin-1 in Drosophila Retinitis Pigmentosa Models
por: Huang, Huai-Wei, et al.
Publicado: (2018)

Proinflammatory Pathways Are Activated in the Human Q344X Rhodopsin Knock-In Mouse Model of Retinitis Pigmentosa
por: Hollingsworth, T.J., et al.
Publicado: (2021)

Variants identified by next-generation sequencing cause endoplasmic reticulum stress in Rhodopsin-associated retinitis pigmentosa
por: Wang, Yue, et al.
Publicado: (2021)

Guanylate cyclase 1 relies on rhodopsin for intracellular stability and ciliary trafficking
por: Pearring, Jillian N, et al.
Publicado: (2015)

Inner retinal preservation in the photoinducible I307N rhodopsin mutant mouse, a model of autosomal dominant retinitis pigmentosa
por: Stefanov, Antonia, et al.
Publicado: (2019)

ATF6 is required for efficient rhodopsin clearance and retinal homeostasis in the P23H rho retinitis pigmentosa mouse model
por: Lee, Eun-Jin, et al.
Publicado: (2021)

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual
por: Beryozkin, Avigail, et al.
Publicado: (2016)

Comparison of the molecular properties of retinitis pigmentosa P23H and N15S amino acid replacements in rhodopsin
por: Mitchell, James, et al.
Publicado: (2019)

Autosomal Dominant Retinitis Pigmentosa Due to Class B Rhodopsin Mutations: An Objective Outcome for Future Treatment Trials
por: Sumaroka, Alexander, et al.
Publicado: (2019)

Subcellular localization of mutant P23H rhodopsin in an RFP fusion knock-in mouse model of retinitis pigmentosa
por: Robichaux, Michael A., et al.
Publicado: (2022)

Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa
por: Maubaret, Cécilia, et al.
Publicado: (2012)

Correction: Comparison of the molecular properties of retinitis pigmentosa P23H and N15S amino acid replacements in rhodopsin
por: Mitchell, James, et al.
Publicado: (2019)

F220. THREAT ANTICIPATION AND NEGATIVE AFFECT IN EARLY PSYCHOSIS
por: Chavez-Baldini, UnYoung, et al.
Publicado: (2018)

Wheel running exercise protects against retinal degeneration in the I307N rhodopsin mouse model of inducible autosomal dominant retinitis pigmentosa
por: Zhang, Xian, et al.
Publicado: (2019)

R9AP targeting to rod outer segments is independent of rhodopsin and is guided by the SNARE homology domain
por: Pearring, Jillian N., et al.
Publicado: (2014)

Retinal detachment in retinitis pigmentosa
por: Chan, Weng Onn, et al.
Publicado: (2020)

Retinitis Pigmentosa: Progress in Molecular Pathology and Biotherapeutical Strategies
por: Liu, Wanqin, et al.
Publicado: (2022)

Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation
por: Hartong, Dyonne T., et al.
Publicado: (2009)

Repair of Rhodopsin mRNA by Spliceosome-Mediated RNA Trans-Splicing: A New Approach for Autosomal Dominant Retinitis Pigmentosa
por: Berger, Adeline, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_tafaopmj1q1cgqrgd7d82l1na0