Prp16/DHX38 helicase and its link to retinitis pigmentosa. Advances in Disease Models

Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378050%3A_____%2F19%3A00523244" target="_blank" >RIV/68378050:_____/19:00523244 - isvavai.cz</a>
Výsledek na webu
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DOI - Digital Object Identifier
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Jazyk výsledku
angličtina
Název v původním jazyce
Prp16/DHX38 helicase and its link to retinitis pigmentosa. Advances in Disease Models
Popis výsledku v původním jazyce
A large number of human diseases are consequence of splicing errors but some show a tissue specific phenotype although they are caused by mutations in ubiquitously expressed spliceosome components. Retinitis pigmentosa (RP), a major cause of blindness, fits nicely in this category. Specifically, two missense mutations in the RNA splicing helicase DHX38 were associated with early-onset autosomal recessive retinitis pigmentosa. In this manuscript, we summarize current knowledge about RP-linked mutations in splicing factors and Prp16/DHX38 function and compare yeast and human homologues.
Název v anglickém jazyce
Prp16/DHX38 helicase and its link to retinitis pigmentosa. Advances in Disease Models
Popis výsledku anglicky
A large number of human diseases are consequence of splicing errors but some show a tissue specific phenotype although they are caused by mutations in ubiquitously expressed spliceosome components. Retinitis pigmentosa (RP), a major cause of blindness, fits nicely in this category. Specifically, two missense mutations in the RNA splicing helicase DHX38 were associated with early-onset autosomal recessive retinitis pigmentosa. In this manuscript, we summarize current knowledge about RP-linked mutations in splicing factors and Prp16/DHX38 function and compare yeast and human homologues.

Projekt
<a href="/cs/project/LO1419" target="_blank" >LO1419: Biomodely pro zdraví - Centrum modelových organismů</a><br>
Návaznosti
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění
2019
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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