期刊
NATURE GENETICS
卷 48, 期 10, 页码 1185-1192出版社
NATURE RESEARCH
DOI: 10.1038/ng.3661
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资金
- Newlife Foundation [14-15/15]
- Great Ormond Street Hospital Children's Charity [V1212]
- Investments for the Future [ANR-10-IAHU-01]
- Wellcome Trust [104981, 097820/Z/11/B]
- La Ligue (Equipe Lab Elisee)
- Centre National de la Recherche Scientifique (CNRS)
- BBSRC [BB/M006565/1] Funding Source: UKRI
- Biotechnology and Biological Sciences Research Council [BB/M006565/1] Funding Source: researchfish
- Great Ormond Street Hospital Childrens Charity [V1212] Funding Source: researchfish
- Newlife [14-15/15] Funding Source: researchfish
Although ribosomes are ubiquitous and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein-coding RNAs involved in ribosome biogenesis. Here we show that biallelic mutations in the gene SNORD118, encoding the box C/D snoRNA U8, cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (LCC), presenting at any age from early childhood to late adulthood. These mutations affect U8 expression, processing and protein binding and thus implicate U8 as essential in cerebral vascular homeostasis.
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