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Title:

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

Document type:
Journal Article; 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; Miranda-Vizuete, Antonio; Hoffmann, Georg F; Lenaers, Guy; Bomont...     »
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:
3
Pages contribution:
695-703
Language:
eng
Fulltext / DOI:
doi:10.1016/j.ajhg.2016.06.030
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/27545681
Print-ISSN:
0002-9297
TUM Institution:
Institut für Humangenetik
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