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

Four New Cases of Hypomyelinating Leukodystrophy Associated with the <i>UFM1</i> 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...

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Bibliographic Details
Main Authors: Zsuzsanna Szűcs, Réka Fitala, Ágnes Renáta Nyuzó, Krisztina Fodor, Éva Czemmel, Nóra Vrancsik, Mónika Bessenyei, Tamás Szabó, Katalin Szakszon, István Balogh
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Genes
Subjects:
<i>UFM1</i>
Roma founder mutation
ufmylation
Hypomyelinating leukodystrophy type 14
NGS
Online Access:https://www.mdpi.com/2073-4425/12/9/1331

Internet

https://www.mdpi.com/2073-4425/12/9/1331

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