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Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
- Source :
- Nature genetics, Nature Genetics, Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.317-317. ⟨10.1038/NG0217-317B⟩, Jenkinson, E M, Rodero, M P, Kasher, P R, Uggenti, C, Oojageer, A, Goosey, L C, Rose, Y, Kershaw, C J, Urquhart, J E, Williams, S G, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Barañano, K W, Barnicoat, A J, Battini, R, Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R, Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R, Lagae, L, Landrieu, P G, Lourenço, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu, S, Õunap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, E H, Sinnathuray, K R, Soh, C, Stewart, H S, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G D, Griffiths-Jones, S, Rice, G I, Revy, P, van der Knaap, M S, Livingston, J H, O'Keefe, R T & Crow, Y J 2017, ' Corrigendum : Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts ', Nature Genetics, vol. 49, no. 2, pp. 317 . https://doi.org/10.1038/ng0217-317b
- Publication Year :
- 2017
-
Abstract
- Although ribosomes are ubiquitously expressed 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 encoding 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.
- Subjects :
- 0303 health sciences
Pathology
medicine.medical_specialty
[SDV]Life Sciences [q-bio]
Biology
medicine.disease
Article
3. Good health
Leukoencephalopathy
03 medical and health sciences
0302 clinical medicine
Cerebral microangiopathy
Genetics
medicine
610 Medicine & health
030217 neurology & neurosurgery
ComputingMilieux_MISCELLANEOUS
030304 developmental biology
Subjects
Details
- ISSN :
- 15461718 and 10614036
- Volume :
- 49
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Nature genetics
- Accession number :
- edsair.doi.dedup.....f37cd798154cef81360a3f0f6cad36a4