Functional Characterization of Rare RAB12 Variants and Their Role in Musician’s and Other Dystonias

Functional Characterization of Rare RAB12 Variants and Their Role in Musician’s and Other Dystonias

Mutations in RAB (member of the Ras superfamily) genes are increasingly recognized as cause of a variety of disorders including neurological conditions. While musician’s dystonia (MD) and writer’s dystonia (WD) are task-specific movement disorders, other dystonias persistently affect postures as in...

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Bibliographic Details
Main Authors: Eva Hebert, Friederike Borngräber, Alexander Schmidt, Aleksandar Rakovic, Ingrid Brænne, Anne Weissbach, Jennie Hampf, Eva-Juliane Vollstedt, Leopold Größer, Susen Schaake, Michaela Müller, Humera Manzoor, Hans-Christian Jabusch, Daniel Alvarez-Fischer, Meike Kasten, Vladimir S. Kostic, Thomas Gasser, Kirsten E. Zeuner, Han-Joon Kim, Beomseok Jeon, Peter Bauer, Eckart Altenmüller, Christine Klein, Katja Lohmann
Format: Article
Language:English
Published: MDPI AG 2017-10-01
Series:Genes
Subjects:
musician’s dystonia
RAB12
GTPase
Transferrin receptor
lysosomal degradation
Online Access:https://www.mdpi.com/2073-4425/8/10/276

Internet

https://www.mdpi.com/2073-4425/8/10/276

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