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Article

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

American journal of human genetics - 7 May 2020

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

Abstract excerpt

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 nervous system development, a disturbance of ribosomal RNA (rRNA) biogenesis and tp53 activation, which monitors...

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Identifiers

PMID: 32359472
DOI: 10.1016/j.ajhg.2020.04.003
PMCID: PMC7212298

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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