Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

doi:10.1093/brain/awy135

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Article

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

Brain : a journal of neurology - 1 Jul 2018

Nahorski Michael S, Maddirevula Sateesh, Ishimura Ryosuke, Alsahli Saud, Brady Angela F, Begemann Anaïs, Mizushima Tsunehiro, Guzmán-Vega Francisco J, Obata Miki, Ichimura Yoshinobu, Alsaif Hessa S, Anazi Shams, Ibrahim Niema, Abdulwahab Firdous, Hashem Mais, Monies Dorota, Abouelhoda Mohamed, Meyer Brian F, Alfadhel Majid, Eyaid Wafa, Zweier Markus, Steindl Katharina, Rauch Anita, Arold Stefan T, Woods C Geoffrey, Komatsu Masaaki, Alkuraya Fowzan S

Abstract excerpt

The post-translational modification of proteins through the addition of UFM1, also known as ufmylation, plays a critical developmental role as revealed by studies in animal models. The recent finding that biallelic mutations in UBA5 (the E1-like enzyme for ufmylation) cause severe early-onset encephalopathy with progressive microcephaly implicates ufmylation in human brain development. More recently, a homozygous...

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Identifiers

PMID: 29868776
DOI: 10.1093/brain/awy135
PMCID: PMC6022668

Genes

UFM1
UFC1
UBA5

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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