Publication: Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development
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Nahorski, M. S., Maddirevula, S., Ishimura, R., et al, Begemann, A., & Rauch, A. (2018). Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. Brain : A Journal of Neurology, 141(7), 1934–1945. https://doi.org/10.1093/brain/awy135
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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 UFM1 variant was proposed as a candidate aetiology of severe early-onset encephalopathy with progressive microcephaly. Here
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- Nahorski, Michael S
- Maddirevula, Sateesh
- Ishimura, Ryosuke
- Rauch, Anita
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Nahorski, M. S., Maddirevula, S., Ishimura, R., et al, Begemann, A., & Rauch, A. (2018). Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. Brain : A Journal of Neurology, 141(7), 1934–1945. https://doi.org/10.1093/brain/awy135
