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1993 1
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Page 1
Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview.
Rahman S, Thorburn DR, Ball M. Rahman S, et al. 2015 Oct 1 [updated 2025 May 1]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2015 Oct 1 [updated 2025 May 1]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 26425749 Free Books & Documents. Review.
EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.
Lehrer S, Rheinstein PH. Lehrer S, et al. Cancer Treat Res Commun. 2022;32:100595. doi: 10.1016/j.ctarc.2022.100595. Epub 2022 Jun 28. Cancer Treat Res Commun. 2022. PMID: 35779338 Free PMC article.
Glutamyl-tRNA synthetase 2 (EARS2) was the only gene coexpressing with PALB2 in the breast and pancreatic cancer subjects that was significantly related to pancreatic cancer survival. ...CONCLUSIONS: EARS2 expression might be a risk factor for pancreatic cancer in b …
Glutamyl-tRNA synthetase 2 (EARS2) was the only gene coexpressing with PALB2 in the breast and pancreatic cancer subjects that was si …
Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review.
Pelayo G, Paiva Coelho M, Correia J, Bandeira A, Nogueira C, Vilarinho L, Martins E. Pelayo G, et al. Neurobiol Dis. 2024 Oct 1;200:106644. doi: 10.1016/j.nbd.2024.106644. Epub 2024 Aug 22. Neurobiol Dis. 2024. PMID: 39173847 Free article.
"Patients with EARS2 deficiency typically present within the first year of life with a well-defined neurometabolic disorder picture, often including hypotonia and/or spasticity, along with neurodevelopmental delay or regression. ...TAKE-HOME MESSAGE: Analysis of all cases …
"Patients with EARS2 deficiency typically present within the first year of life with a well-defined neurometabolic disorder picture, …
Proteomic-based stratification of intermediate-risk prostate cancer patients.
Zhong Q, Sun R, Aref AT, Noor Z, Anees A, Zhu Y, Lucas N, Poulos RC, Lyu M, Zhu T, Chen GB, Wang Y, Ding X, Rutishauser D, Rupp NJ, Rueschoff JH, Poyet C, Hermanns T, Fankhauser C, Rodríguez Martínez M, Shao W, Buljan M, Neumann JF, Beyer A, Hains PG, Reddel RR, Robinson PJ, Aebersold R, Guo T, Wild PJ. Zhong Q, et al. Life Sci Alliance. 2023 Dec 4;7(2):e202302146. doi: 10.26508/lsa.202302146. Print 2024 Feb. Life Sci Alliance. 2023. PMID: 38052461 Free PMC article.
Here, we performed proteomic, differential expression, machine learning, and survival analyses for 1,348 matched tumour and benign sample runs from 278 patients. Three proteins (F5, TMEM126B, and EARS2) were identified as candidate biomarkers in patients with biochemical r …
Here, we performed proteomic, differential expression, machine learning, and survival analyses for 1,348 matched tumour and benign sample ru …
Case report: 'AARS2 leukodystrophy'.
Axelsen TM, Vammen TL, Bak M, Pourhadi N, Stenør CM, Grønborg S. Axelsen TM, et al. Mol Genet Metab Rep. 2021 Jul 13;28:100782. doi: 10.1016/j.ymgmr.2021.100782. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34285876 Free PMC article.
Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.
Ni M, Black LF, Pan C, Vu H, Pei J, Ko B, Cai L, Solmonson A, Yang C, Nugent KM, Grishin NV, Xing C, Roeder E, DeBerardinis RJ. Ni M, et al. J Inherit Metab Dis. 2021 Jul;44(4):949-960. doi: 10.1002/jimd.12387. Epub 2021 Apr 27. J Inherit Metab Dis. 2021. PMID: 33855712 Free PMC article.
Patients with EARS2 deficiency present with variable phenotypes ranging from neonatal lethality to a mitigated disease with clinical improvement in early childhood. ...To examine genotype-phenotype correlations in COXPD12, we compared the metabolic impact of reconstituting …
Patients with EARS2 deficiency present with variable phenotypes ranging from neonatal lethality to a mitigated disease with clinical …
Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination.
Fine AS, Nemeth CL, Kaufman ML, Fatemi A. Fine AS, et al. J Neurodev Disord. 2019 Dec 16;11(1):29. doi: 10.1186/s11689-019-9292-y. J Neurodev Disord. 2019. PMID: 31839000 Free PMC article. Review.
BODY: The disease patterns emerging for these leukodystrophies are distinct in terms of the age of onset, nature of disease progression, and predominance of involved white matter tracts. In DARS2 and EARS2 disorders, earlier disease onset is typically correlated with more …
BODY: The disease patterns emerging for these leukodystrophies are distinct in terms of the age of onset, nature of disease progression, and …
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.
Gedikbasi A, Toksoy G, Karaca M, Gulec C, Balci MC, Gunes D, Gunes S, Aslanger AD, Unverengil G, Karaman B, Basaran S, Demirkol M, Gokcay GF, Uyguner ZO. Gedikbasi A, et al. Front Genet. 2023 Jun 12;14:1191159. doi: 10.3389/fgene.2023.1191159. eCollection 2023. Front Genet. 2023. PMID: 37377599 Free PMC article.
Results: Exome sequencing revealed 14 different pathogenic variants in nine genes encoding mitochondrial function peptides (AARS2, EARS2, ECHS1, FBXL4, MICOS13, NDUFAF6, OXCT1, POLG, and TK2) in 12 patients from nine families and four variants in genes encoding important f …
Results: Exome sequencing revealed 14 different pathogenic variants in nine genes encoding mitochondrial function peptides (AARS2, EARS2 …
B cell dysfunction in thalamus and brainstem involvement and high lactate caused by novel mutation of EARS2 gene.
Wen Y, Huang Y, Zhang W, Chen P, Hu X, Xiong X, Luo L. Wen Y, et al. Ital J Pediatr. 2025 May 19;51(1):143. doi: 10.1186/s13052-025-01999-5. Ital J Pediatr. 2025. PMID: 40389993 Free PMC article.
PURPOSE: The EARS2 gene, a member of the mt-aaRS family, encodes mitochondrial glutamyl-tRNA synthetase (GluRS), which is involved in the synthesis of mitochondrial proteins. ...Molecular analysis revealed a compound heterozygous novel mutation in c.1304T > A (p.L435Q) …
PURPOSE: The EARS2 gene, a member of the mt-aaRS family, encodes mitochondrial glutamyl-tRNA synthetase (GluRS), which is involved in …
Remitting and exacerbating white matter lesions in leukoencephalopathy with thalamus and brainstem involvement and high lactate.
Sawada D, Naito S, Aoyama H, Shiohama T, Ichikawa T, Imagawa E, Miyake N, Matsumoto N, Fujii K. Sawada D, et al. Brain Dev. 2021 Aug;43(7):798-803. doi: 10.1016/j.braindev.2021.03.008. Epub 2021 May 4. Brain Dev. 2021. PMID: 33962821
Whole-exome sequencing yielded novel compound heterozygous EARS2 variants of c.164G>T, p.Arg55Leu and c.484C>T, p.Arg162Trp. Interestingly, the lesions were reduced at three years of age, and new lesions emerged at eight years of age. ...CONCLUSION: We present the fi …
Whole-exome sequencing yielded novel compound heterozygous EARS2 variants of c.164G>T, p.Arg55Leu and c.484C>T, p.Arg162Trp. In …
41 results