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

doi:10.1016/j.ajhg.2016.06.030

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Article

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

American journal of human genetics - 1 Sept 2016

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 Pascale, Liebau Eva, Bonneau Dominique

Abstract excerpt

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...

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Identifiers

PMID: 27545681
DOI: 10.1016/j.ajhg.2016.06.030
PMCID: PMC5011045

Genes

UBA5
UFM1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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