Article
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nature genetics - 1 Oct 2016
Jenkinson Emma M, Rodero Mathieu P, Kasher Paul R, Uggenti Carolina, Oojageer Anthony, Goosey Laurence C, Rose Yoann, Kershaw Christopher J, Urquhart Jill E, Williams Simon G, Bhaskar Sanjeev S, O'Sullivan James, Baerlocher Gabriela M, Haubitz Monika, Aubert Geraldine, Barañano Kristin W, Barnicoat Angela J, Battini Roberta, Berger Andrea, Blair Edward M, Brunstrom-Hernandez Janice E, Buckard Johannes A, Cassiman David M, Caumes Rosaline, Cordelli Duccio M, De Waele Liesbeth M, Fay Alexander J, Ferreira Patrick, Fletcher Nicholas A, Fryer Alan E, Goel Himanshu, Hemingway Cheryl A, Henneke Marco, Hughes Imelda, Jefferson Rosalind J, Kumar Ram, Lagae Lieven, Landrieu Pierre G, Lourenço Charles M, Malpas Timothy J, Mehta Sarju G, Metz Imke, Naidu Sakkubai, Õunap Katrin, Panzer Axel, Prabhakar Prab, Quaghebeur Gerardine, Schiffmann Raphael, Sherr Elliott H, Sinnathuray Kanaga R, Soh Calvin, Stewart Helen S, Stone John, Van Esch Hilde, Van Mol Christine E G, Vanderver Adeline, Wakeling Emma L, Whitney Andrea, Pavitt Graham D, Griffiths-Jones Sam, Rice Gillian I, Revy Patrick, van der Knaap Marjo S, Livingston John H, O'Keefe Raymond T, Crow Yanick J
Abstract excerpt
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...
Read the complete abstract on PubMed