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The protein encoded by DARS2 belongs to the class-II aminoacyl-tRNA synthetase family.
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Results now provide the first evidence that loss of DARS2 in neurons leads to strong mitochondrial dysfunction and progressive loss of cells.
DARS2 depletion in heart and skeletal muscle leads to the severe deregulation of mitochondrial protein (show COX6B2 Antibodies) synthesis followed by a strong respiratory chain deficit in both tissues.
This study identified DARS2-associated leukoencephalopathy with hypomyelination with brainstem and spinal cord involvement and leg spasticity.
60 different DARS2 mutations were identified in 78 patients with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, 13 of which have not been reported before
Cognitive impairment seems to be common among patients with leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate and DARS2 mutations
A comparison of biophysical properties of human mitochondrial aspartyl-tRNA synthetase (show DARS Antibodies), HsaDRS2, with them to those of a bacterial (E. coli) homolog, EcoDRS.
Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase (show DARS Antibodies) in diverse way
We describe two new cases of Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate with a novel pathogenic mutation in the DARS2 gene
Case demonstrates that DARS2 mutation homozygosity is not lethal, as suggested earlier, but compatible with a rather benign disease course.
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.
A novel homozygous mutation of DARS2 may cause a severe LBSL (Leukoencephalopathy with brain stem and spinal cord involvement with lactate elevation) variant.
This report describes two novel heterozygote composite mutations in the DARS2 gene
The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL).
aspartyl-tRNA synthetase 2, mitochondrial
, aspartyl-tRNA synthetase 2 (mitochondrial)
, aspartyl-tRNA synthetase, mitochondrial
, aspartyl-tRNA synthetase, mitochondrial-like
, aspartate--tRNA ligase, mitochondrial
, aspartate tRNA ligase 2, mitochondrial