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

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 enceph...

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Vydáno v:Brain
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2018
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6022668/
https://ncbi.nlm.nih.gov/pubmed/29868776
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awy135
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