In vivo characterization of the aspartyl-tRNA synthetase DARS: Homing in on the leukodystrophy HBSL

In vivo characterization of the aspartyl-tRNA synthetase DARS: Homing in on the leukodystrophy HBSL

Background: The recently diagnosed leukodystrophy Hypomyelination with Brain stem and Spinal cord involvement and Leg spasticity (HBSL) is caused by mutations of the cytoplasmic aspartyl-tRNA synthetase gene DARS. The physiological role of DARS in translation is to accurately pair aspartate with its...

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Bibliographic Details
Main Authors: Dominik Fröhlich, Alexandra K. Suchowerska, Ziggy H.T. Spencer, Georg von Jonquieres, Claudia B. Klugmann, Andre Bongers, Fabien Delerue, Holly Stefen, Lars M. Ittner, Thomas Fath, Gary D. Housley, Matthias Klugmann
Format: Article
Language:English
Published: Elsevier 2017-01-01
Series:Neurobiology of Disease
Subjects:
DARS
HBSL
Leukodystrophy
Aminoacyl-tRNA synthetase
Aspartyl-tRNA synthetase
Mouse model
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996116302480

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http://www.sciencedirect.com/science/article/pii/S0969996116302480

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