Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary

Ufmylation is a relatively newly discovered type of post-translational modification when the ubiquitin-fold modifier 1 (UFM1) protein is covalently attached to its target proteins in a three-step enzymatic reaction involving an E1 activating enzyme (UBA5), E2 conjugating enzyme (UFC1), and E3 ligase...

Descripción completa

Detalles Bibliográficos
Autores principales: Szűcs, Zsuzsanna, Fitala, Réka, Nyuzó, Ágnes Renáta, Fodor, Krisztina, Czemmel, Éva, Vrancsik, Nóra, Bessenyei, Mónika, Szabó, Tamás, Szakszon, Katalin, Balogh, István
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8471165/
https://www.ncbi.nlm.nih.gov/pubmed/34573312
http://dx.doi.org/10.3390/genes12091331

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8471165/
https://www.ncbi.nlm.nih.gov/pubmed/34573312
http://dx.doi.org/10.3390/genes12091331

Ejemplares similares