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Journal articles on the topic 'I307N'

Author: Grafiati

Published: 10 March 2023

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1

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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2

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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3

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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4

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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5

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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6

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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9

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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10

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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11

SCHRIER, M., L. SEVERIJNEN, S. REIS, M. RIFE, S. VANTPADJE, G. VANCAPPELLEN, B. OOSTRA, and R. WILLEMSEN. "Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells." Experimental Neurology 189, no. 2 (October 2004): 343–53. http://dx.doi.org/10.1016/j.expneurol.2004.05.039.

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12

Wang, Houping, Jason B. Dictenberg, Li Ku, Wen Li, Gary J. Bassell, and Yue Feng. "Dynamic Association of the Fragile X Mental Retardation Protein as a Messenger Ribonucleoprotein between Microtubules and Polyribosomes." Molecular Biology of the Cell 19, no. 1 (January 2008): 105–14. http://dx.doi.org/10.1091/mbc.e07-06-0583.

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The fragile X mental retardation protein (FMRP) is a selective RNA-binding protein that regulates translation and plays essential roles in synaptic function. FMRP is bound to specific mRNA ligands, actively transported into neuronal processes in a microtubule-dependent manner, and associated with polyribosomes engaged in translation elongation. However, the biochemical relationship between FMRP–microtubule association and FMRP–polyribosome association remains elusive. Here, we report that although the majority of FMRP is incorporated into elongating polyribosomes in the soluble cytoplasm, microtubule-associated FMRP is predominantly retained in translationally dormant, polyribosome-free messenger ribonucleoprotein (mRNP) complexes. Interestingly, FMRP–microtubule association is increased when mRNPs are dynamically released from polyribosomes as a result of inhibiting translation initiation. Furthermore, the I304N mutant FMRP that fails to be incorporated into polyribosomes is associated with microtubules in mRNP particles and transported into neuronal dendrites in a microtubule-dependent, 3,5-dihydroxyphenylglycine-stimulated manner with similar kinetics to that of wild-type FMRP. Hence, polyribosome-free FMRP–mRNP complexes travel on microtubules and wait for activity-dependent translational derepression at the site of function. The dual participation of FMRP in dormant mRNPs and polyribosomes suggests distinct roles of FMRP in dendritic transport and translational regulation, two distinct phases that control local protein production to accommodate synaptic plasticity.

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13

Bagnéris, Claire, Richard Cammack, and Jeremy R. Mason. "Subtle Difference between Benzene and Toluene Dioxygenases of Pseudomonas putida." Applied and Environmental Microbiology 71, no. 3 (March 2005): 1570–80. http://dx.doi.org/10.1128/aem.71.3.1570-1580.2005.

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ABSTRACT Benzene dioxygenase and toluene dioxygenase from Pseudomonas putida have similar catalytic properties, structures, and gene organizations, but they differ in substrate specificity, with toluene dioxygenase having higher activity toward alkylbenzenes. The catalytic iron-sulfur proteins of these enzymes consist of two dissimilar subunits, α and β; the α subunit contains a [2Fe-2S] cluster involved in electron transfer, the catalytic nonheme iron center, and is also responsible for substrate specificity. The amino acid sequences of the α subunits of benzene and toluene dioxygenases differ at only 33 of 450 amino acids. Chimeric proteins and mutants of the benzene dioxygenase α subunit were constructed to determine which of these residues were primarily responsible for the change in specificity. The protein containing toluene dioxygenase C-terminal region residues 281 to 363 showed greater substrate preference for alkyl benzenes. In addition, we identified four amino acid substitutions in this region, I301V, T305S, I307L, and L309V, that particularly enhanced the preference for ethylbenzene. The positions of these amino acids in the α subunit structure were modeled by comparison with the crystal structure of naphthalene dioxygenase. They were not in the substrate-binding pocket but were adjacent to residues that lined the channel through which substrates were predicted to enter the active site. However, the quadruple mutant also showed a high uncoupled rate of electron transfer without product formation. Finally, the modified proteins showed altered patterns of products formed from toluene and ethylbenzene, including monohydroxylated side chains. We propose that these properties can be explained by a more facile diffusion of the substrate in and out of the substrate cavity.

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14

Xu, G. Wei, Julia I. Toth, Sara R. da Silva, Stacey-Lynn Paiva, Julie L. Lukkarila, Rose Hurren, Neil Maclean, et al. "Mutations In UBA3 Confer Resistance To The NEDD8-Activating Enzyme Inhibitor MLN4924 In Human Leukemic Cells." Blood 122, no. 21 (November 15, 2013): 2527. http://dx.doi.org/10.1182/blood.v122.21.2527.2527.

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Abstract The NEDD8-activating enzyme (NAE) initiates neddylation, the cascade of post-translational conjugation of NEDD8 onto target proteins. Cullin proteins are major substrates of the neddylation pathway, and are involved in diverse cellular processes. MLN4924, a selective NAE inhibitor, has displayed preclinical anti-tumor activity in vitro and in vivo, and promising clinical activity has been reported in patients with refractory hematologic malignancies. Here, we sought to understand the mechanisms of resistance to MLN4924 in leukemic cells. MLN4924 shows potent activity in K562 human leukemia cells (EC50 = 100 nM). In contrast, by exposing K562 cells to increasing concentrations of MLN4924 over 6 months, we selected a population of cells resistant to MLN4924 (R-K562MLN; EC50 > 2 µM). R-K562MLN cells proliferated similarly to parental K562 cells, and remained resistant to MLN4924 even after culturing in the absence of MLN4924 for 5 weeks. Compared to parental cells, R-K562MLN cells were similarly sensitive to a broad spectrum of chemotherapeutic drugs, including daunorubicin, a classical substrate of the multidrug efflux transporter P-glycoprotein. Thus, the mechanism of resistance to MLN4924 did not appear to be related to generalized multidrug efflux. While basal levels of NEDD8-conjugated cullin proteins were equivalent in parental and resistant cells, NEDD8-cullins were diminished in parental cells treated with 25 nM MLN4924. In contrast, no appreciable reduction in NEDD8-cullins was observed in R-K562MLN cells after treatment with up to 250 nM MLN4924. However, knockdown of NEDD8 by shRNA was cytotoxic to R-K562MLNcells, suggesting that NEDD8 conjugation remains essential for the survival of resistant cells. To further probe mechanisms of MLN4924 resistance in these cells, we sequenced the coding region of the NAE catalytic subunit UBA3 from K562 and R-K562MLN cells, and identified a mutation in codon 310 [ATT (Isoleucine, I) > AAT (Asparagine, N)] in R-K562MLN cells. Biochemical analyses using recombinant wild-type and I310N NAE complexes indicated that the I310N mutation alters biochemical properties of the NAE, increasing the enzyme’s affinity for ATP while decreasing its affinity for NEDD8. The I310N NAE complex was ∼7-fold less sensitive to MLN4924 (IC50 = 225 nM) compared to wild-type NAE (IC50 = 32 nM), providing a mechanistic basis for MLN4924 resistance in R-K562MLNcells through the UBA3 I310N mutation. To investigate whether another malignant leukemic cell line employs a similar on-target resistance mechanism, we similarly selected a population of U937 cells resistant to MLN4924 (R-U937MLN). Parental U937 cells were sensitive to MLN4924 (EC50 = 25 nM), while R-U937MLN cells were more than 40-fold more resistant (EC50 > 1 µM). Sequencing of the coding region of UBA3 in U937 and R-U937MLN cells revealed a point mutation in codon 352 [TAT (Tyrosine, Y) > CAT (Histidine, H)] only in R-U937MLN cells. As for the UBA3 I301N mutation, the Y352H mutation conferred a ∼10-fold decrease in the sensitivity of the NAE to MLN4924 (IC50= 138.5 nM and 13 nM for Y352H and wild-type, respectively) through decreased NEDD8 and increased ATP affinities. These findings suggest that the Y352H mutation, like I310N, is sufficient to provide MLN4924 resistance in leukemia cells while sustaining adequate NAE function for leukemic cell survival. We next found that R-K562MLN cells were cross-resistant to other NAE-selective inhibitors derived from Compound 1, a pan-E1 inhibitor. Nevertheless, compared to parental cells, R-K562MLN cells were not refractory to Compound 1 (EC50 = 27 nM and 81 nM, respectively). The cytotoxicity of Compound 1 towards MLN4924-resistant cells might be explained by its inhibition of other E1 enzymes. Indeed, Compound 1 diminished the abundance of ubiquitinated proteins in R-K562MLNcells similarly to its effects in K562 cells, while NEDD8-cullins in the MLN4924-resistant cells were unaffected. Overall, as MLN4924 continues to be evaluated clinically, our work provides insight into the mechanisms of MLN4924 resistance, which may facilitate the development of more effective second-generation NAE inhibitors. Disclosures: Petroski: Allostere, Inc.: Consultancy, Equity Ownership.

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15

Massengill, Michael T., Neil F. Ash, Brianna M. Young, Cristhian J. Ildefonso, and Alfred S. Lewin. "Sectoral activation of glia in an inducible mouse model of autosomal dominant retinitis pigmentosa." Scientific Reports 10, no. 1 (October 12, 2020). http://dx.doi.org/10.1038/s41598-020-73749-y.

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Abstract Retinitis pigmentosa (RP) is a group of blinding disorders caused by diverse mutations, including in rhodopsin (RHO). Effective therapies have yet to be discovered. The I307N Rho mouse is a light-inducible model of autosomal dominant RP. Our purpose was to describe the glial response in this mouse model to educate future experimentation. I307N Rho mice were exposed to 20,000 lx of light for thirty minutes to induce retinal degeneration. Immunofluorescence staining of cross-sections and flat-mounts was performed to visualize the response of microglia and Müller glia. Histology was correlated with spectral-domain optical coherence tomography imaging (SD-OCT). Microglia dendrites extended between photoreceptors within two hours of induction, withdrew their dendrites between twelve hours and one day, appeared ameboid by three days, and assumed a ramified morphology by one month. Glial activation was more robust in the inferior retina and modulated across the boundary of light damage. SD-OCT hyper-reflectivity overlapped with activated microglia. Finally, microglia transiently adhered to the RPE before which RPE cells appeared dysmorphic. Our data demonstrate the spatial and temporal pattern of glial activation in the I307N Rho mouse, and correlate these patterns with SD-OCT images, assisting in interpretation of SD-OCT images in preclinical models and in human RP.

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16

Herrera-Hernández, María Guadalupe, Neda Razzaghi, Pol Fernandez-Gonzalez, Laia Bosch-Presegué, Guillem Vila-Julià, Juan Jesús Pérez, and Pere Garriga. "New insights into the molecular mechanism of rhodopsin retinitis pigmentosa from the biochemical and functional characterization of G90V, Y102H and I307N mutations." Cellular and Molecular Life Sciences 79, no. 1 (January 2022). http://dx.doi.org/10.1007/s00018-021-04086-0.

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AbstractMutations in the photoreceptor protein rhodopsin are known as one of the leading causes of retinal degeneration in humans. Two rhodopsin mutations, Y102H and I307N, obtained in chemically mutagenized mice, are currently the subject of increased interest as relevant models for studying the process of retinal degeneration in humans. Here, we report on the biochemical and functional characterization of the structural and functional alterations of these two rhodopsin mutants and we compare them with the G90V mutant previously analyzed, as a basis for a better understanding of in vivo studies. This mechanistic knowledge is fundamental to use it for developing novel therapeutic approaches for the treatment of inherited retinal degeneration in retinitis pigmentosa. We find that Y102H and I307N mutations affect the inactive–active equilibrium of the receptor. In this regard, the mutations reduce the stability of the inactive conformation but increase the stability of the active conformation. Furthermore, the initial rate of the functional activation of transducin, by the I307N mutant is reduced, but its kinetic profile shows an unusual increase with time suggesting a profound effect on the signal transduction process. This latter effect can be associated with a change in the flexibility of helix 7 and an indirect effect of the mutation on helix 8 and the C-terminal tail of rhodopsin, whose potential role in the functional activation of the receptor has been usually underestimated. In the case of the Y102H mutant, the observed changes can be associated with conformational alterations affecting the folding of the rhodopsin intradiscal domain, and its presumed involvement in the retinal binding process by the receptor.

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17

Piano, Ilaria, Francesca Corsi, Beatrice Polini, and Claudia Gargini. "Nutraceutical Molecules Slow Down Retinal Degeneration, in Tvrm4 Mice a Model of Retinitis Pigmentosa, by Genetic Modulation of Anti-oxidant Pathway." Frontiers in Neuroscience 16 (April 19, 2022). http://dx.doi.org/10.3389/fnins.2022.868750.

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Rhodopsin (RHO) mutations are responsible for 25–40% of the dominant cases of retinitis pigmentosa (RP) with different severity and progression rates. The Tvrm4 mice, heterozygous for an I307N dominant mutation of RHO, display a normal retinal phenotype when raised in ambient light conditions, but undergo photoreceptor degeneration when briefly exposed to strong white light. Here, The Tvrm4 mice is pre-treated with naringenin 100 mg/kg/die, quercetin 100 mg/kg/die, naringenin 50 + quercercetin 100 mg/kg/die or vehicle dimethyl sulfoxide (DMSO 0.025%) in the drinking water for 35 days. On the 30th day, retinal degeneration was induced by exposure for 1 min to the white light of 12,000 lux intensity, and the treatment was repeated for another 5 days. At the end of the protocol retinal functionality was tested by recording an electroretinogram (ERG). The retinal tissue was collected and was used for further analyses, including immunohistochemically, biochemical, and molecular biology assays. The data obtained show that treatment with nutraceutical molecules is effective in counteracting retinal degeneration by preserving the functionality of photoreceptors and increasing the antioxidant and anti-apoptotic pathways of retinal cells. The present data confirm that nutraceutical molecules are effective in slowing photoreceptor degeneration in a mutation-independent way by modulating the antioxidant response of the retina at the gene expression level.

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18

Aypek, Hande, Veysel Bay, and Gülistan Meşe. "Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations." BMC Cell Biology 17, no. 1 (February 2, 2016). http://dx.doi.org/10.1186/s12860-016-0081-0.

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19

SANGYO EISEIGAKU ZASSHI 47, Special (2005): 605. http://dx.doi.org/10.1539/sangyoeisei.kj00003804237.

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