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Article

DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia.

Human molecular genetics - 10 Oct 2020

Rumyantseva Anastasia, Motori Elisa, Trifunovic Aleksandra

Abstract excerpt

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation disorder (LBSL) arises from mutations in mitochondrial aspartyl-tRNA synthetase (DARS2) gene. The disease has a childhood or juvenile-onset and is clinically characterized by cerebellar ataxia, cognitive decline and distinct morphological abnormalities upon magnetic resonance imaging. We previously demonstrated that neurons and...

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PMID: 32766765
DOI: 10.1093/hmg/ddaa176

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