Relevant bibliographies by topics / I307N

Academic literature on the topic 'I307N'

Author: Grafiati
Published: 10 March 2023

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Journal articles on the topic "I307N"

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Razzaghi, Neda, Pol Fernandez-Gonzalez, Aina Mas-Sanchez, Guillem Vila-Julià, Juan Jesus Perez, and Pere Garriga. "Effect of Sodium Valproate on the Conformational Stability of the Visual G Protein-Coupled Receptor Rhodopsin." Molecules 26, no. 10 (May 19, 2021): 3032. http://dx.doi.org/10.3390/molecules26103032.

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Rhodopsin is the G protein-coupled receptor of rod photoreceptor cells that mediates vertebrate vision at low light intensities. Mutations in rhodopsin cause inherited retinal degenerative diseases such as retinitis pigmentosa. Several therapeutic strategies have attempted to address and counteract the deleterious effect of rhodopsin mutations on the conformation and function of this photoreceptor protein, but none has been successful in efficiently preventing retinal degeneration in humans. These approaches include, among others, the use of small molecules, known as pharmacological chaperones, that bind to the receptor stabilizing its proper folded conformation. Valproic acid, in its sodium valproate form, has been used as an anticonvulsant in epileptic patients and in the treatment of several psychiatric disorders. More recently, this compound has been tested as a potential therapeutic agent for the treatment of retinal degeneration associated with retinitis pigmentosa caused by rhodopsin mutations. We now report on the effect of sodium valproate on the conformational stability of heterologously expressed wild-type rhodopsin and a rhodopsin mutant, I307N, which has been shown to be an appropriate model for studying retinal degeneration in mice. We found no sign of enhanced stability for the dark inactive conformation of the I307N mutant. Furthermore, the photoactivated conformation of the mutant appears to be destabilized by sodium valproate as indicated by a faster decay of its active conformation. Therefore, our results support a destabilizing effect of sodium valproate on rhodopsin I307N mutant associated with retinal degeneration. These findings, at the molecular level, agree with recent clinical studies reporting negative effects of sodium valproate on the visual function of retinitis pigmentosa patients.
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Massengill, Michael T., Brianna Young, Deep Patel, Farwa Jafri, Ernesto Sabogal, Neil Ash, Hong Li, Cristhian J. Ildefonso, and Alfred S. Lewin. "Clinically Relevant Outcome Measures for the I307N Rhodopsin Mouse: A Model of Inducible Autosomal Dominant Retinitis Pigmentosa." Investigative Opthalmology & Visual Science 59, no. 13 (November 14, 2018): 5417. http://dx.doi.org/10.1167/iovs.18-25345.

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Stefanov, Antonia, Elena Novelli, and Enrica Strettoi. "Inner retinal preservation in the photoinducible I307N rhodopsin mutant mouse, a model of autosomal dominant retinitis pigmentosa." Journal of Comparative Neurology 528, no. 9 (December 18, 2019): 1502–22. http://dx.doi.org/10.1002/cne.24838.

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Budzynski, Ewa, Alecia K. Gross, Suzanne D. McAlear, Neal S. Peachey, Meera Shukla, Feng He, Malia Edwards, et al. "Mutations of the Opsin Gene (Y102H and I307N) Lead to Light-induced Degeneration of Photoreceptors and Constitutive Activation of Phototransduction in Mice." Journal of Biological Chemistry 285, no. 19 (March 5, 2010): 14521–33. http://dx.doi.org/10.1074/jbc.m110.112409.

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Hikiba, Juri, Yoshimasa Takizawa, Shukuko Ikawa, Takehiko Shibata, and Hitoshi Kurumizaka. "Biochemical analysis of the human DMC1-I37N polymorphism." FEBS Journal 276, no. 2 (December 8, 2008): 457–65. http://dx.doi.org/10.1111/j.1742-4658.2008.06786.x.

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Zang, Julie B., Elena D. Nosyreva, Corinne M. Spencer, Lenora J. Volk, Kiran Musunuru, Ru Zhong, Elizabeth F. Stone, et al. "A Mouse Model of the Human Fragile X Syndrome I304N Mutation." PLoS Genetics 5, no. 12 (December 11, 2009): e1000758. http://dx.doi.org/10.1371/journal.pgen.1000758.

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7

Regan, L., D. Magrane, A. Lamackova, P. C. Ho, A. Faundes, S. Munjanja, and D. Shaw. "I307 INTEGRATING HUMAN RIGHTS AND HEALTH - INTRODUCING THE FIGO PROJECT TO TRANSFORM WOMEN'S HEALTHCARE." International Journal of Gynecology & Obstetrics 119 (October 2012): S238. http://dx.doi.org/10.1016/s0020-7292(12)60337-3.

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8

Simoncini, T. "I307 Rapid actions of steroid receptors: Bringing the rhythm of signaling to a new pace." International Journal of Gynecology & Obstetrics 107 (October 2009): S76. http://dx.doi.org/10.1016/s0020-7292(09)60307-6.

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Quesada, Teresa, Margarita Aguilera, José Antonio Morillo, Alberto Ramos-Cormenzana, and Mercedes Monteoliva-Sánchez. "Virgibacillus olivae sp. nov., isolated from waste wash-water from processing of Spanish-style green olives." International Journal of Systematic and Evolutionary Microbiology 57, no. 5 (May 1, 2007): 906–10. http://dx.doi.org/10.1099/ijs.0.64550-0.

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Four bacterial strains (E308T, E5549, I3077 and N30129) were isolated from the residual wash-water produced during the processing of Spanish-style green table olives. The isolates were subjected to a polyphasic taxonomic study using phenotypic, phylogenetic and genotypic methods. The bacteria were Gram-positive, spore-forming rods. Moreover, they were heterotrophs that were able to utilize cellobiose, glucose, mannose and rhamnose as carbon sources. The G+C content of their genomic DNA ranged from 30.7 to 33.4 mol%. The major cellular fatty acids found in strain E308T were iso-C15 : 0, anteiso-C15 : 0, iso-C17 : 0 and anteiso-C17 : 0. DNA–DNA hybridization shows 76.2–88.3 % relatedness among the four strains. The 16S rRNA gene sequence of isolate E308T shows that it belongs to the genus Virgibacillus, with the highest sequence similarity (99 %) to Virgibacillus marismortui 123T. However, phenotypic differences and DNA–DNA relatedness between strain E308T and V. marismortui ATCC 700626T of less than 47 % suggest the placement of these strains within a novel species of the genus Virgibacillus. The name Virgibacillus olivae sp. nov. is proposed, with strain E308T (=LMG 23503T=DSM 18098T) as the type strain.
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Feng, Yue, Devin Absher, Derek E. Eberhart, Victoria Brown, Henry E. Malter, and Stephen T. Warren. "FMRP Associates with Polyribosomes as an mRNP, and the I304N Mutation of Severe Fragile X Syndrome Abolishes This Association." Molecular Cell 1, no. 1 (December 1997): 109–18. http://dx.doi.org/10.1016/s1097-2765(00)80012-x.

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Dissertations / Theses on the topic "I307N"

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Stefanov, Antonia. "Bipolar cells in Retinitis Pigmentosa - Influence of the age of onset on the nature and severity of remodeling." Doctoral thesis, 2019. http://hdl.handle.net/2158/1151614.

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Book chapters on the topic "I307N"

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Biermann, Albert, J. H. Park, and K. Koester. "i30N – the first high-performance vehicle development from Hyundai." In Proceedings, 61–72. Wiesbaden: Springer Fachmedien Wiesbaden, 2018. http://dx.doi.org/10.1007/978-3-658-22050-1_8.

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