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Article

In vivocharacterization of the aspartyl-tRNA synthetase DARS: Homing in on the leukodystrophy HBSL.

Neurobiology of disease - 1 Jan 2017

Fröhlich Dominik, Suchowerska Alexandra K, Spencer Ziggy H T, von Jonquieres Georg, Klugmann Claudia B, Bongers Andre, Delerue Fabien, Stefen Holly, Ittner Lars M, Fath Thomas, Housley Gary D, Klugmann Matthias

Abstract excerpt

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 to accurately pair aspartate with its cognate tRNA. Clinically, HBSL subjects show a distinct pattern of hypomyelination and develop progressive leg...

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PMID: 27816769
DOI: 10.1016/j.nbd.2016.10.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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