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Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.
Guang S, O'Brien BM, Fine AS, Ying M, Fatemi A, Nemeth CL. Guang S, et al. Sci Rep. 2023 Aug 10;13(1):13042. doi: 10.1038/s41598-023-40107-7. Sci Rep. 2023. PMID: 37563224 Free PMC article.
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disorder caused by the mutations in the DARS2 gene, which encodes the mitochondrial aspartyl-tRNA synthetase. The objective of this study was to unders …
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disorder caused by …
DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia.
Rumyantseva A, Motori E, Trifunovic A. Rumyantseva A, et al. Hum Mol Genet. 2020 Oct 10;29(17):2845-2854. doi: 10.1093/hmg/ddaa176. Hum Mol Genet. 2020. PMID: 32766765
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation disorder (LBSL) arises from mutations in mitochondrial aspartyl-tRNA synthetase (DARS2) gene. ...We previously demonstrated that neurons and not adult myelin-producing cells are sp …
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation disorder (LBSL) arises from mutations in mitoch …
DARS2 promotes the occurrence of lung adenocarcinoma via the ERK/c-Myc signaling pathway.
Fang T, Jiang J, Yu W, Li R, Tian H. Fang T, et al. Thorac Cancer. 2023 Dec;14(36):3511-3521. doi: 10.1111/1759-7714.15152. Epub 2023 Nov 11. Thorac Cancer. 2023. PMID: 37950542 Free PMC article.
The mechanism of DARS2 involvement in LUAD still needs to be further explored. METHODS: In this study, we found that DARS2 expression in LUAD tissue was significantly higher than that in normal tissue. ...CONCLUSION: Our data revealed the oncogenic role of DARS2 …
The mechanism of DARS2 involvement in LUAD still needs to be further explored. METHODS: In this study, we found that DARS2 exp …
High expression of DARS2 indicates poor prognosis in lung adenocarcinoma.
Jiang Y, You J, Wu C, Kang Y, Chen F, Chen L, Wu W. Jiang Y, et al. J Clin Lab Anal. 2022 Oct;36(10):e24691. doi: 10.1002/jcla.24691. Epub 2022 Sep 9. J Clin Lab Anal. 2022. PMID: 36085578 Free PMC article.
BACKGROUND: DARS2 was overexpressed in multiple tumor types, but the biological role of DARS2 in lung adenocarcinoma (LUAD) have not been elucidated. ...GSEA revealed that DARS2 was primarily involved in cell cycle-related pathways. In addition, upregulation …
BACKGROUND: DARS2 was overexpressed in multiple tumor types, but the biological role of DARS2 in lung adenocarcinoma (LUAD) ha …
Mitochondrial dysfunctions in leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL).
Lin TK, Chang YY, Lin HY, Liou CW, Wang PW, Chuang JH, Chen SD, Chuang YC, Huang ST, Hsu TY, Peng CH, Lan MY. Lin TK, et al. PLoS One. 2019 Oct 31;14(10):e0224173. doi: 10.1371/journal.pone.0224173. eCollection 2019. PLoS One. 2019. PMID: 31671122 Free PMC article.
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a leukodystrophy caused by mutations in the DARS2 gene which encodes mitochondrial aspartyl-tRNA synthetase. As mitochondrial ARSs are key components of the mitochondrial …
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a leukodystrophy caused by mutations i …
Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Wongkittichote P, Magistrati M, Shimony JS, Smyser CD, Fatemi SA, Fine AS, Bellacchio E, Dallabona C, Shinawi M. Wongkittichote P, et al. Mol Genet Metab. 2022 Aug;136(4):260-267. doi: 10.1016/j.ymgme.2022.07.002. Epub 2022 Jul 5. Mol Genet Metab. 2022. PMID: 35820270
Biallelic pathogenic variants in the nuclear gene DARS2 (MIM# 610956), encoding the mitochondrial enzyme aspartyl-tRNA synthetase (MT-ASPRS) cause leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL) (MIM# 611105 …
Biallelic pathogenic variants in the nuclear gene DARS2 (MIM# 610956), encoding the mitochondrial enzyme aspartyl-tRNA synthetase ( …
Upregulation of DARS2 by HBV promotes hepatocarcinogenesis through the miR-30e-5p/MAPK/NFAT5 pathway.
Qin X, Li C, Guo T, Chen J, Wang HT, Wang YT, Xiao YS, Li J, Liu P, Liu ZS, Liu QY. Qin X, et al. J Exp Clin Cancer Res. 2017 Oct 19;36(1):148. doi: 10.1186/s13046-017-0618-x. J Exp Clin Cancer Res. 2017. PMID: 29052520 Free PMC article.
In addition, HBV also inhibited NFAT5 through miR-30e-5p targeted MAP4K4, and miR-30e-5p in turn inhibited HBV replication. Finally, we demonstrated that NFAT5 suppressed DARS2 by directly binding to its promoter. DARS2 was identified as an HCC oncogene that promote …
In addition, HBV also inhibited NFAT5 through miR-30e-5p targeted MAP4K4, and miR-30e-5p in turn inhibited HBV replication. Finally, we demo …
MicroRNA (let-7b-5p)-targeted DARS2 regulates lung adenocarcinoma growth by PI3K/AKT signaling pathway.
Xu Y, Chen X. Xu Y, et al. Oncol Res. 2024 Feb 6;32(3):517-528. doi: 10.32604/or.2023.030293. eCollection 2024. Oncol Res. 2024. PMID: 38361754 Free PMC article.
DARS2 silence decreased the proliferation, migration, and invasion abilities of LUAD cells. ...Moreover, DARS2 silence impaired the tumorigenicity of LUAD in vivo. Interestingly, let-7b-5p could recognize DARS2 through a complementary sequence. ...
DARS2 silence decreased the proliferation, migration, and invasion abilities of LUAD cells. ...Moreover, DARS2 silence impaire …
Phenotypic spectrum of DARS2 mutations.
Finsterer J, Zarrouk-Mahjoub S. Finsterer J, et al. J Neurol Sci. 2017 May 15;376:117-118. doi: 10.1016/j.jns.2017.03.006. Epub 2017 Mar 9. J Neurol Sci. 2017. PMID: 28431594 No abstract available.
Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL.
Borna NN, Kishita Y, Sakai N, Hamada Y, Kamagata K, Kohda M, Ohtake A, Murayama K, Okazaki Y. Borna NN, et al. Genes (Basel). 2020 Nov 9;11(11):1325. doi: 10.3390/genes11111325. Genes (Basel). 2020. PMID: 33182419 Free PMC article.
Brain MRI demonstrated signal abnormalities in the deep cerebral white matter, corticospinal and dorsal column tracts, and pyramids, which resemble the MRI pattern of a severe form of LBSL, and involvement of basal ganglia and thalamus that resemble the radiological featur …
Brain MRI demonstrated signal abnormalities in the deep cerebral white matter, corticospinal and dorsal column tracts, and pyramids, which r …
32 results