Thapa B, Das M, Held J, Patel M
bioRxiv. 2025; .
PMID: 39975410
PMC: 11838591.
DOI: 10.1101/2025.02.03.636310.
Meli A, Montano V, Palermo G, Fogli A, Rocchi A, Gerfo A
J Neurol. 2025; 272(2):111.
PMID: 39812846
DOI: 10.1007/s00415-024-12772-9.
Mendes M, Wolf N, Rudinger-Thirion J, Lenz D, Frugier M, Verloo P
Nucleic Acids Res. 2024; 52(22):e107.
PMID: 39574415
PMC: 11662674.
DOI: 10.1093/nar/gkae1134.
Del Prado L, Jaraiz-Rodriguez M, Agro M, Zamora-Dorta M, Azpiazu N, Calleja M
Nat Commun. 2024; 15(1):8682.
PMID: 39375345
PMC: 11458614.
DOI: 10.1038/s41467-024-52968-1.
Johnson B, Farkas D, El-Mergawy R, Adair J, Elhance A, Eltobgy M
Nat Commun. 2024; 15(1):6172.
PMID: 39039092
PMC: 11263397.
DOI: 10.1038/s41467-024-50031-7.
Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.
Antolinez-Fernandez A, Esteban-Ramos P, Fernandez-Moreno M, Clemente P
Front Cell Dev Biol. 2024; 12:1410245.
PMID: 38855161
PMC: 11157125.
DOI: 10.3389/fcell.2024.1410245.
Identification of a Novel Indel Variant in the Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.
Bostanova F, Tsygankova P, Larshina E, Nagornov I, Evseeva Y, Krutikhina I
Genes (Basel). 2024; 15(5).
PMID: 38790244
PMC: 11121371.
DOI: 10.3390/genes15050615.
Functional enrichment analysis reveals the involvement of DARS2 in multiple biological pathways and its potential as a therapeutic target in esophageal carcinoma.
Liu X, Liu Z, Zeng D, Hu J, Chen X, Gu J
Aging (Albany NY). 2024; 16(4):3934-3954.
PMID: 38382106
PMC: 10929822.
DOI: 10.18632/aging.205569.
Variants in the SARS2 gene cause HUPRA syndrome with atypical features: two case reports and review of the literature.
Lahham E, Hasassneh J, Adawi D, Ismail M
Oxf Med Case Reports. 2024; 2023(11):omad119.
PMID: 38264205
PMC: 10805608.
DOI: 10.1093/omcr/omad119.
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel mutation.
Huang W, Steenari M, Barrick R, Simon M, Chang R, Eftekharian S
Mol Genet Metab Rep. 2023; 38:101025.
PMID: 38125072
PMC: 10731372.
DOI: 10.1016/j.ymgmr.2023.101025.
DARS2 promotes the occurrence of lung adenocarcinoma via the ERK/c-Myc signaling pathway.
Fang T, Jiang J, Yu W, Li R, Tian H
Thorac Cancer. 2023; 14(36):3511-3521.
PMID: 37950542
PMC: 10733159.
DOI: 10.1111/1759-7714.15152.
DARS2 overexpression is associated with PET/CT metabolic parameters and affects glycolytic activity in lung adenocarcinoma.
Liu X, Yuan L, Gao Y, Ming X, Zhang Y, Zhang Y
J Transl Med. 2023; 21(1):574.
PMID: 37626419
PMC: 10463715.
DOI: 10.1186/s12967-023-04454-3.
Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.
Guang S, OBrien B, Fine A, Ying M, Fatemi A, Nemeth C
Sci Rep. 2023; 13(1):13042.
PMID: 37563224
PMC: 10415389.
DOI: 10.1038/s41598-023-40107-7.
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Ben-Mahmoud A, Kishikawa S, Gupta V, Leach N, Shen Y, Moldovan O
Sci Rep. 2023; 13(1):12984.
PMID: 37563198
PMC: 10415337.
DOI: 10.1038/s41598-023-40037-4.
Aminoacyl-tRNA Synthetase-based Prognosis Model and Exploration of Potential Mechanisms in Hepatocellular Carcinoma.
Jin Y, Huang X, Wang Z, Xu H, Wang Q, Wang L
J Clin Transl Hepatol. 2023; 11(4):877-888.
PMID: 37408809
PMC: 10318289.
DOI: 10.14218/JCTH.2022.00301.
Role of Mutations of Mitochondrial Aminoacyl-tRNA Synthetases Genes on Epileptogenesis.
Kong L, Wu Y, Cheng R, Wang P, Peng B
Mol Neurobiol. 2023; 60(9):5482-5492.
PMID: 37316759
DOI: 10.1007/s12035-023-03429-1.
Recessive aminoacyl-tRNA synthetase disorders: lessons learned from disease models.
Kalotay E, Klugmann M, Housley G, Frohlich D
Front Neurosci. 2023; 17:1182874.
PMID: 37274208
PMC: 10234152.
DOI: 10.3389/fnins.2023.1182874.
A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Ben-Mahmoud A, Kishikawa S, Gupta V, Leach N, Shen Y, Moldovan O
Res Sq. 2023; .
PMID: 37034680
PMC: 10081357.
DOI: 10.21203/rs.3.rs-2572736/v1.
Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.
Guang S, OBrien B, Smith Fine A, Ying M, Fatemi A, Nemeth C
Res Sq. 2023; .
PMID: 36909591
PMC: 10002802.
DOI: 10.21203/rs.3.rs-2603446/v1.
Adult-Onset Genetic Leukoencephalopathies With Movement Disorders.
Fu M, Chang Y
J Mov Disord. 2023; 16(2):115-132.
PMID: 36872858
PMC: 10236013.
DOI: 10.14802/jmd.22127.