Dr Isabel Lopez Sanchez
Honorary (Fellow)
Department of Surgery
26 Scholarly works
1 Projects
HIGHLIGHTS
2025
Journal article
Family and genetic counseling in Leber hereditary optic neuropathy
DOI: 10.1080/13816810.2025.24511752023
Journal article
Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
DOI: 10.1016/j.ajhg.2022.11.0142022
Journal article
Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration
DOI: 10.1038/s41467-022-31707-42022
Journal article
MicroRNA-101-3p Modulates Mitochondrial Metabolism via the Regulation of Complex II Assembly
DOI: 10.1016/j.jmb.2021.1673612021
Journal article
Establishing risk of vision loss in Leber hereditary optic neuropathy
DOI: 10.1016/j.ajhg.2021.09.0152021
Journal article
MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data
DOI: 10.1371/journal.pcbi.10095942021
Journal article
Human mitoribosome biogenesis and its emerging links to disease
DOI: 10.3390/ijms22083827
RECENT SCHOLARLY WORKS
2021
Journal article
Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly
DOI: 10.1093/nar/gkaa11312020
Journal article
Nuclear response to divergent mitochondrial DNA genotypes modulates the interferon immune response
DOI: 10.1371/journal.pone.02398042020
Journal article
OXPHOS bioenergetic compensation does not explain disease penetrance in Leber hereditary optic neuropathy
DOI: 10.1016/j.mito.2020.07.003
RECENT PROJECTS
2016
Internal Research Grant
Nuclear Protection in Leber Hereditary Optic Neuropathy