Biblio
Abnormal morphology and function in retinal ganglion cells derived from patients-specific iPSCs generated from individuals with Leber's hereditary optic neuropathy. Hum Mol Genet. 2022.
. A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis. Nucleic Acids Res. 2018.
. Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients. Hum Mol Genet. 2022.
. Induced pluripotent stem cells: ex vivo models for human diseases due to mitochondrial DNA mutations. J Biomed Sci. 2023;30(1):82.
. Maternally Inherited diabetes is associated with a homoplasmic T10003C mutation in the mitochondrial tRNA(Gly) gene. Mitochondrion. 2015.
Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome. PLoS Genet. 2015;11(3):e1005097.
Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber's hereditary optic neuropathy. Hum Mol Genet. 2023.
. Phenotypic and functional characterization of Bst+/- mouse retina. Dis Model Mech. 2015.