Associated Papers
Encephalopathy-linked UFM1 variants impede neuronal protein translation, development, and function.
Perdigão C et al.
Embo Molecular Medicine, 2026
MCM5 UFMylation regulates replication origin firing and fork progression.
Li Z et al.
The Embo Journal, 2025
Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.
Issa MY et al.
American Journal of Medical Genetics. Part A, 2024
The Post-Translational Role of UFMylation in Physiology and Disease.
Wang X et al.
Cells, 2023
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
The UFM1 conjugation system in mammalian development.
Yang S et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2023
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1
PEHO syndrome: the endpoint of different genetic epilepsies.
Chitre M et al.
Journal of Medical Genetics, 2018
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
Nahorski MS et al.
Brain : a Journal of Neurology, 2018
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