Detalhe da pesquisa
1.
A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool.
Int J Mol Sci
; 22(22)2021 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34830106
2.
Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.
Haematologica
; 103(12): e564-e566, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29976739
3.
Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.
PLoS One
; 13(10): e0205014, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30273399
4.
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Nat Commun
; 9(1): 4065, 2018 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30283131
5.
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
JAMA Neurol
; 74(6): 686-694, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28395030