| http://purl.uniprot.org/citations/32766765 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32766765 | http://www.w3.org/2000/01/rdf-schema#comment | "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 not adult myelin-producing cells are specifically sensitive to DARS2 loss, hence likely the primary culprit in LBSL disorder. We used conditional Purkinje cell (PCs)-specific Dars2 deletion to elucidate further the cell-type-specific contribution of this class of neurons to the cerebellar impairment observed in LBSL. We show that DARS2 depletion causes a severe mitochondrial dysfunction concomitant with a massive loss of PCs by the age of 15 weeks, thereby rapidly deteriorating motor skills. Our findings conclusively show that DARS2 is indispensable for PC survival and highlights the central role of neuroinflammation in DARS2-related PC degeneration."xsd:string |
| http://purl.uniprot.org/citations/32766765 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddaa176"xsd:string |
| http://purl.uniprot.org/citations/32766765 | http://purl.uniprot.org/core/author | "Trifunovic A."xsd:string |
| http://purl.uniprot.org/citations/32766765 | http://purl.uniprot.org/core/author | "Rumyantseva A."xsd:string |
| http://purl.uniprot.org/citations/32766765 | http://purl.uniprot.org/core/author | "Motori E."xsd:string |
| http://purl.uniprot.org/citations/32766765 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32766765 | http://purl.uniprot.org/core/name | "Hum Mol Genet"xsd:string |
| http://purl.uniprot.org/citations/32766765 | http://purl.uniprot.org/core/pages | "2845-2854"xsd:string |
| http://purl.uniprot.org/citations/32766765 | http://purl.uniprot.org/core/title | "DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia."xsd:string |
| http://purl.uniprot.org/citations/32766765 | http://purl.uniprot.org/core/volume | "29"xsd:string |
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