A novel compound heterozygous mutation of UFC1 in a patient with neurodevelopmental disorder
Author:
Funder
National Natural Science Foundation of China
Capital Health Research and Development of Special Fund
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s13258-024-01543-5.pdf
Reference24 articles.
1. Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE et al (2017) Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatr 22:615–624
2. Banerjee S, Kumar M, Wiener R (2020) Decrypting UFMylation: how proteins are modified with UFM1. Biomolecules 10
3. Cappadocia L, Lima CD (2018) Ubiquitin-like protein conjugation: structures, Chemistry, and mechanism. Chem Rev 118:889–918
4. Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB et al (2016) Biallelic variants in UBA5 reveal that disruption of the UFM1 Cascade can result in early-onset Encephalopathy. Am J Hum Genet 99:695–703
5. Dang F, Nie L, Wei W (2021) Ubiquitin signaling in cell cycle control and tumorigenesis. Cell Death Differ 28:427–438
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