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Title:

Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.

Document type:
Article; Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Harrer, Philip; Škorvánek, Matej; Kittke, Volker; Dzinovic, Ivana; Borngräber, Friederike; Thomsen, Mirja; Mandel, Vanessa; Svorenova, Tatiana; Ostrozovicova, Miriam; Kulcsarova, Kristina; Berutti, Riccardo; Busch, Hauke; Ott, Fabian; Kopajtich, Robert; Prokisch, Holger; Kumar, Kishore R; Mencacci, Niccolo E; Kurian, Manju A; Di Fonzo, Alessio; Boesch, Sylvia; Kühn, Andrea A; Blümlein, Ulrike; Lohmann, Katja; Haslinger, Bernhard; Weise, David; Jech, Robert; Winkelmann, Juliane; Zech, Michael
Abstract:
BACKGROUND: Protein synthesis is a tightly controlled process, involving a host of translation-initiation factors and microRNA-associated repressors. Variants in the translational regulator EIF2AK2 were first linked to neurodevelopmental-delay phenotypes, followed by their implication in dystonia. Recently, de novo variants in EIF4A2, encoding eukaryotic translation initiation factor 4A isoform 2 (eIF4A2), have been described in pediatric cases with developmental delay and intellectual disabilit...     »
Journal title abbreviation:
Mov Disord
Year:
2023
Journal volume:
38
Journal issue:
10
Pages contribution:
1914-1924
Fulltext / DOI:
doi:10.1002/mds.29562
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/37485550
Print-ISSN:
0885-3185
TUM Institution:
Institut für Humangenetik (Prof. Winkelmann)
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