Articles with "hbsl" as a keyword



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

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Published in 2017 at "Neurobiology of Disease"

DOI: 10.1016/j.nbd.2016.10.008

Abstract: 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 geneDARS. The physiological role of DARS in translation is… read more here.

Keywords: aspartyl trna; trna synthetase; leukodystrophy; mice ... See more keywords