Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts

How mutations in the non-coding U8 snoRNA cause the neurological disorder leukoencephalopathy with calcifications and cysts (LCC) is poorly understood. Here, we report the generation of a mutant U8 animal model for interrogating LCC-associated pathology. Mutant U8 zebrafish exhibit defective central...

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發表在:Am J Hum Genet
Main Authors: Badrock, Andrew P., Uggenti, Carolina, Wacheul, Ludivine, Crilly, Siobhan, Jenkinson, Emma M., Rice, Gillian I., Kasher, Paul R., Lafontaine, Denis L.J., Crow, Yanick J., O’Keefe, Raymond T.
格式: Artigo
語言:Inglês
出版: Elsevier 2020
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7212298/
https://ncbi.nlm.nih.gov/pubmed/32359472
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.04.003
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