Prp16/DHX38 helicase and its link to retinitis pigmentosa. Advances in Disease Models
The result's identifiers
Result code in 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>
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Prp16/DHX38 helicase and its link to retinitis pigmentosa. Advances in Disease Models
Original language description
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.
Czech name
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Czech description
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Classification
Type
C - Chapter in a specialist book
CEP classification
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OECD FORD branch
10608 - Biochemistry and molecular biology
Result continuities
Project
<a href="/en/project/LO1419" target="_blank" >LO1419: Biomodels for Health - Center for model organisms</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Book/collection name
Advances in Disease Models
ISBN
978-80-88011-06-4
Number of pages of the result
7
Pages from-to
241-247
Number of pages of the book
310
Publisher name
OPTIO CZ
Place of publication
Praha
UT code for WoS chapter
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