FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2883553459> ?p ?o ?g. }

• W2883553459 endingPage "34" @default.
• W2883553459 startingPage "23" @default.
• W2883553459 abstract "Mutations in the RS1 gene encoding retinoschisin cause X-linked juvenile retinoschisis (XLRS), a hereditary retinal dystrophy in males. While most of the XLRS associated mutations strongly interfere with cellular secretion, this is not true for mutants RS1-F108C, -R141G, -R141H, -R182C, -H207Q and -R209H. Native retinoschisin builds double-octamers and binds to retinal membranes, interacting with the retinal Na/K-ATPase. Functionally, it regulates MAP kinase signaling and Na/K-ATPase localization, and hampers photoreceptor degeneration. In this study, we investigated the capacity of the retinoschisin mutants still secreted extracellularly to fulfil these tasks. We addressed secretion and oligomerization of the heterologously expressed mutants as well as their binding to recombinant retinal Na/K-ATPases and murine retinoschisin-deficient (Rs1h-/Y) retinal and non-retinal explants. This has refined the categorization of secreted retinoschisin mutants: (i) no octamerization, unspecific membrane binding (RS1-F108C and -R182C), (ii) double-octamerization but no membrane binding (RS1-R141H), and (iii) double-octamerization and unspecific membrane binding (RS1-R141G, -H207Q, and -R209H). Notably, selected mutants of all categories (RS1-F108C, -R141H, and -R209H) failed to regulate retinal MAP kinase signaling and Na/K-ATPase localization in Rs1h-/Y retinal explants, and could not attenuate photoreceptor degeneration. Bioinformatic modeling of the secreted mutants depicted prominent alterations in the spatial and temporal conformation of a substructure called “spike 3” and its vicinity, implying a crucial role of this substructure for binding capacity and specificity. Taken together, our data point to a pathomechanism for secreted retinoschisin mutants, specifically to disturbances of the retinoschisin interface accompanied by unphysiological membrane interactions and impaired regulatory functions." @default.
• W2883553459 created "2018-08-03" @default.
• W2883553459 creator A5001634837 @default.
• W2883553459 creator A5002078560 @default.
• W2883553459 creator A5006626674 @default.
• W2883553459 creator A5021029195 @default.
• W2883553459 creator A5043224777 @default.
• W2883553459 creator A5051333996 @default.
• W2883553459 creator A5059517063 @default.
• W2883553459 creator A5063161602 @default.
• W2883553459 date "2018-12-01" @default.
• W2883553459 modified "2023-10-12" @default.
• W2883553459 title "Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis" @default.
• W2883553459 cites W1498735063 @default.
• W2883553459 cites W1659046494 @default.
• W2883553459 cites W1963994022 @default.
• W2883553459 cites W1969167814 @default.
• W2883553459 cites W1970123832 @default.
• W2883553459 cites W1981021420 @default.
• W2883553459 cites W1992151914 @default.
• W2883553459 cites W1996405087 @default.
• W2883553459 cites W2004464633 @default.
• W2883553459 cites W20120559 @default.
• W2883553459 cites W2016865715 @default.
• W2883553459 cites W2022118976 @default.
• W2883553459 cites W2038673880 @default.
• W2883553459 cites W2043833442 @default.
• W2883553459 cites W2044034296 @default.
• W2883553459 cites W2045974158 @default.
• W2883553459 cites W2054043360 @default.
• W2883553459 cites W2061105073 @default.
• W2883553459 cites W2076318135 @default.
• W2883553459 cites W2080270797 @default.
• W2883553459 cites W2087238009 @default.
• W2883553459 cites W2089830667 @default.
• W2883553459 cites W2092724715 @default.
• W2883553459 cites W2124216990 @default.
• W2883553459 cites W2125716773 @default.
• W2883553459 cites W2130486373 @default.
• W2883553459 cites W2136586526 @default.
• W2883553459 cites W2140387095 @default.
• W2883553459 cites W2150737519 @default.
• W2883553459 cites W2151697358 @default.
• W2883553459 cites W2151737415 @default.
• W2883553459 cites W2153379835 @default.
• W2883553459 cites W2153439292 @default.
• W2883553459 cites W2155133070 @default.
• W2883553459 cites W2155980999 @default.
• W2883553459 cites W2160755534 @default.
• W2883553459 cites W2161169160 @default.
• W2883553459 cites W2162930631 @default.
• W2883553459 cites W2259090724 @default.
• W2883553459 cites W2345087304 @default.
• W2883553459 cites W2419280417 @default.
• W2883553459 cites W2507926707 @default.
• W2883553459 cites W2562598511 @default.
• W2883553459 cites W2731705285 @default.
• W2883553459 cites W2737734238 @default.
• W2883553459 cites W2744332902 @default.
• W2883553459 doi "https://doi.org/10.1016/j.exer.2018.07.021" @default.
• W2883553459 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30040949" @default.
• W2883553459 hasPublicationYear "2018" @default.
• W2883553459 type Work @default.
• W2883553459 sameAs 2883553459 @default.
• W2883553459 citedByCount "12" @default.
• W2883553459 countsByYear W28835534592018 @default.
• W2883553459 countsByYear W28835534592019 @default.
• W2883553459 countsByYear W28835534592020 @default.
• W2883553459 countsByYear W28835534592021 @default.
• W2883553459 countsByYear W28835534592022 @default.
• W2883553459 countsByYear W28835534592023 @default.
• W2883553459 crossrefType "journal-article" @default.
• W2883553459 hasAuthorship W2883553459A5001634837 @default.
• W2883553459 hasAuthorship W2883553459A5002078560 @default.
• W2883553459 hasAuthorship W2883553459A5006626674 @default.
• W2883553459 hasAuthorship W2883553459A5021029195 @default.
• W2883553459 hasAuthorship W2883553459A5043224777 @default.
• W2883553459 hasAuthorship W2883553459A5051333996 @default.
• W2883553459 hasAuthorship W2883553459A5059517063 @default.
• W2883553459 hasAuthorship W2883553459A5063161602 @default.
• W2883553459 hasConcept C104317684 @default.
• W2883553459 hasConcept C143065580 @default.
• W2883553459 hasConcept C153911025 @default.
• W2883553459 hasConcept C2779594218 @default.
• W2883553459 hasConcept C2780428090 @default.
• W2883553459 hasConcept C2780827179 @default.
• W2883553459 hasConcept C55493867 @default.
• W2883553459 hasConcept C86803240 @default.
• W2883553459 hasConcept C95444343 @default.
• W2883553459 hasConceptScore W2883553459C104317684 @default.
• W2883553459 hasConceptScore W2883553459C143065580 @default.
• W2883553459 hasConceptScore W2883553459C153911025 @default.
• W2883553459 hasConceptScore W2883553459C2779594218 @default.
• W2883553459 hasConceptScore W2883553459C2780428090 @default.
• W2883553459 hasConceptScore W2883553459C2780827179 @default.
• W2883553459 hasConceptScore W2883553459C55493867 @default.
• W2883553459 hasConceptScore W2883553459C86803240 @default.
• W2883553459 hasConceptScore W2883553459C95444343 @default.

• next