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Document type:
journal article 
Author(s):
Colin, Estelle; Daniel, Jens; Ziegler, Alban; Wakim, Jamal; Scrivo, Aurora; Haack, Tobias B; Khiati, Salim; Denommé, Anne-Sophie; Amati-Bonneau, Patrizia; Charif, Majida; Procaccio, Vincent; Reynier, Pascal; Aleck, Kyrieckos A; Botto, Lorenzo D; Herper, Claudia Lena; Kaiser, Charlotte Sophia; Nabbout, Rima; N'Guyen, Sylvie; Mora-Lorca, José Antonio; Assmann, Birgit; Christ, Stine; Meitinger, Thomas; Strom, Tim M; Prokisch, Holger; FREX Consortium; Miranda-Vizuete, Antonio; Hoffmann, Georg F; Len...    »
 
Title:
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. 
Abstract:
Via whole-exome sequencing, we identified rare autosomal-recessive variants in UBA5 in five children from four unrelated families affected with a similar pattern of severe intellectual deficiency, microcephaly, movement disorders, and/or early-onset intractable epilepsy. UBA5 encodes the E1-activating enzyme of ubiquitin-fold modifier 1 (UFM1), a recently identified ubiquitin-like protein. Biochemical studies of mutant UBA5 proteins and studies in fibroblasts from affected individuals revealed t...    »
 
Journal title abbreviation:
Am J Hum Genet 
Year:
2016 
Journal volume:
99 
Journal issue:
Pages contribution:
695-703 
Language:
eng 
Print-ISSN:
0002-9297 
TUM Institution:
Institut für Humangenetik