FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2952137798> ?p ?o ?g. }

• W2952137798 abstract "Human bestrophin-1 (BEST1) is an integral membrane protein known to function as a Ca2+-activated and volume-regulated chloride channel. The majority of disease-associated mutations in BEST1 constitute missense mutations and were shown in-vitro to lead to a reduction in mutant protein half-life causing Best disease (BD), a rare autosomal dominant macular dystrophy. To further delineate BEST1-associated pathology in-vivo and to provide an animal model useful to explore experimental treatment efficacies, we have generated a knock-in mouse line (Best1Y227N). Heterozygous and homozygous mutants revealed no significant ocular abnormalities up to 2 years of age. In contrast, knock-in animals demonstrated a severe phenotype in the male reproductive tract. In heterozygous Best1Y227N males, Best1 protein was significantly reduced in testis and almost absent in homozygous mutant mice, although mRNA transcription of wildtype and knock-in allele is present and similar in quantity. Degradation of mutant Best1 protein in testis was associated with adverse effects on sperm motility and the capability to fertilize eggs. Based on these results, we conclude that mice carrying the Best1 Y227N mutation reveal a reproducible pathologic phenotype and thus provide a valuable in-vivo tool to evaluate efficacy of drug therapies aimed at restoring Best1 protein stability and function." @default.
• W2952137798 created "2019-06-27" @default.
• W2952137798 creator A5000149932 @default.
• W2952137798 creator A5006527905 @default.
• W2952137798 creator A5034889496 @default.
• W2952137798 creator A5057464344 @default.
• W2952137798 creator A5059517063 @default.
• W2952137798 creator A5085840167 @default.
• W2952137798 date "2019-01-01" @default.
• W2952137798 modified "2023-10-16" @default.
• W2952137798 title "The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy" @default.
• W2952137798 cites W138859237 @default.
• W2952137798 cites W1494211349 @default.
• W2952137798 cites W1501706589 @default.
• W2952137798 cites W1530260171 @default.
• W2952137798 cites W1577595820 @default.
• W2952137798 cites W1586414441 @default.
• W2952137798 cites W1957554463 @default.
• W2952137798 cites W1967391569 @default.
• W2952137798 cites W1974626059 @default.
• W2952137798 cites W1976263073 @default.
• W2952137798 cites W1978810668 @default.
• W2952137798 cites W1984602692 @default.
• W2952137798 cites W1989486428 @default.
• W2952137798 cites W1989641404 @default.
• W2952137798 cites W1989746623 @default.
• W2952137798 cites W2009421031 @default.
• W2952137798 cites W2019731198 @default.
• W2952137798 cites W2020025898 @default.
• W2952137798 cites W2021163002 @default.
• W2952137798 cites W2027313539 @default.
• W2952137798 cites W2027714126 @default.
• W2952137798 cites W2027806625 @default.
• W2952137798 cites W2029913901 @default.
• W2952137798 cites W2039527297 @default.
• W2952137798 cites W204157745 @default.
• W2952137798 cites W2042287894 @default.
• W2952137798 cites W2046497474 @default.
• W2952137798 cites W2048855120 @default.
• W2952137798 cites W2049771160 @default.
• W2952137798 cites W2055820698 @default.
• W2952137798 cites W2064745146 @default.
• W2952137798 cites W2065031748 @default.
• W2952137798 cites W2071123787 @default.
• W2952137798 cites W2071360337 @default.
• W2952137798 cites W2076232924 @default.
• W2952137798 cites W2079957125 @default.
• W2952137798 cites W2086790354 @default.
• W2952137798 cites W2091874566 @default.
• W2952137798 cites W2093780646 @default.
• W2952137798 cites W2094310458 @default.
• W2952137798 cites W2094866737 @default.
• W2952137798 cites W2104908096 @default.
• W2952137798 cites W2125463027 @default.
• W2952137798 cites W2125642347 @default.
• W2952137798 cites W2126930913 @default.
• W2952137798 cites W2130486373 @default.
• W2952137798 cites W2137891524 @default.
• W2952137798 cites W2139309081 @default.
• W2952137798 cites W2140746311 @default.
• W2952137798 cites W2148796365 @default.
• W2952137798 cites W2153726199 @default.
• W2952137798 cites W2155373232 @default.
• W2952137798 cites W2170208972 @default.
• W2952137798 cites W2170490404 @default.
• W2952137798 cites W2226796336 @default.
• W2952137798 cites W2395232912 @default.
• W2952137798 cites W2415612818 @default.
• W2952137798 cites W2511945421 @default.
• W2952137798 cites W2547770886 @default.
• W2952137798 cites W2580370883 @default.
• W2952137798 cites W2594915354 @default.
• W2952137798 cites W2792262786 @default.
• W2952137798 cites W2793264310 @default.
• W2952137798 cites W2794369709 @default.
• W2952137798 cites W2799801940 @default.
• W2952137798 cites W4241684070 @default.
• W2952137798 cites W4290282682 @default.
• W2952137798 doi "https://doi.org/10.1242/bio.041335" @default.
• W2952137798 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6679414" @default.
• W2952137798 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31201163" @default.
• W2952137798 hasPublicationYear "2019" @default.
• W2952137798 type Work @default.
• W2952137798 sameAs 2952137798 @default.
• W2952137798 citedByCount "5" @default.
• W2952137798 countsByYear W29521377982020 @default.
• W2952137798 countsByYear W29521377982021 @default.
• W2952137798 countsByYear W29521377982022 @default.
• W2952137798 countsByYear W29521377982023 @default.
• W2952137798 crossrefType "journal-article" @default.
• W2952137798 hasAuthorship W2952137798A5000149932 @default.
• W2952137798 hasAuthorship W2952137798A5006527905 @default.
• W2952137798 hasAuthorship W2952137798A5034889496 @default.
• W2952137798 hasAuthorship W2952137798A5057464344 @default.
• W2952137798 hasAuthorship W2952137798A5059517063 @default.
• W2952137798 hasAuthorship W2952137798A5085840167 @default.
• W2952137798 hasBestOaLocation W29521377981 @default.
• W2952137798 hasConcept C104317684 @default.
• W2952137798 hasConcept C127716648 @default.
• W2952137798 hasConcept C143065580 @default.

• next