Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

doi:10.1016/j.ajhg.2016.06.020

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Article

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

American journal of human genetics - 1 Sept 2016

Muona Mikko, Ishimura Ryosuke, Laari Anni, Ichimura Yoshinobu, Linnankivi Tarja, Keski-Filppula Riikka, Herva Riitta, Rantala Heikki, Paetau Anders, Pöyhönen Minna, Obata Miki, Uemura Takefumi, Karhu Thomas, Bizen Norihisa, Takebayashi Hirohide, McKee Shane, Parker Michael J, Akawi Nadia, McRae Jeremy, Hurles Matthew E, Kuismin Outi, Kurki Mitja I, Anttonen Anna-Kaisa, Tanaka Keiji, Palotie Aarno, Waguri Satoshi, Lehesjoki Anna-Elina, Komatsu Masaaki

Abstract excerpt

The ubiquitin fold modifier 1 (UFM1) cascade is a recently identified evolutionarily conserved ubiquitin-like modification system whose function and link to human disease have remained largely uncharacterized. By using exome sequencing in Finnish individuals with severe epileptic syndromes, we identified pathogenic compound heterozygous variants in UBA5, encoding an activating enzyme for UFM1, in two unrelated...

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Identifiers

PMID: 27545674
DOI: 10.1016/j.ajhg.2016.06.020
PMCID: PMC5010641

Genes

UFM1
UBA5
UFC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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