Human retinal organoids with an OPA1 mutation are defective in retinal ganglion cell differentiation and function
Q Lei, K Xiang, L Cheng, M Xiang - Stem Cell Reports, 2024 - cell.com
Autosomal dominant optic atrophy (ADOA), mostly caused by heterozygous OPA1 mutations
and characterized by retinal ganglion cell (RGC) loss and optic nerve degeneration, is one …
and characterized by retinal ganglion cell (RGC) loss and optic nerve degeneration, is one …
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts
P Zanfardino, A Amati, S Doccini, SN Cox… - Human Molecular …, 2024 - academic.oup.com
In several cases of mitochondrial diseases, the underlying genetic and bioenergetic causes
of reduced oxidative phosphorylation (OxPhos) in mitochondrial dysfunction are well …
of reduced oxidative phosphorylation (OxPhos) in mitochondrial dysfunction are well …
Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene
M García-López, L Jiménez-Vicente… - International Journal of …, 2024 - mdpi.com
Autosomal dominant optic atrophy (ADOA) is a rare progressive disease mainly caused by
mutations in OPA1, a nuclear gene encoding for a mitochondrial protein that plays an …
mutations in OPA1, a nuclear gene encoding for a mitochondrial protein that plays an …
Sex-related differences in SIRT3-mediated mitochondrial dynamics in renal ischemia/reperfusion injury
H Yao, H Zhao, Y Du, Y Zhang, Y Li, H Zhu - Translational Research, 2024 - Elsevier
The prevalence of renal ischemia/reperfusion injury (IRI) in premenopausal women is
considerably lower than that in age-matched men. This suggests that sex-related differences …
considerably lower than that in age-matched men. This suggests that sex-related differences …
[HTML][HTML] Impaired mitochondrial morphological plasticity and failure of mitophagy associated with the G11778A mutation of LHON
BA Pasqualotto, A Nelson, S Deheshi… - Biochemical and …, 2024 - Elsevier
Mitochondrial dynamics were examined in human dermal fibroblasts biopsied from a
confirmed Leber's Hereditary Optic Neuropathy (LHON) patient with a homoplasmic …
confirmed Leber's Hereditary Optic Neuropathy (LHON) patient with a homoplasmic …
Dystonia, spastic tetraplegia, and ataxia due to a novel mutation in the dynamin domain of OPA1
YZ Shi, K Zhang, GH Dong, H Pan… - Annals of Clinical …, 2024 - Wiley Online Library
Movement disorders manifest in various hereditary neurodegenerative diseases. We
reported a young man who presented with progressive upper limb dystonia, spastic …
reported a young man who presented with progressive upper limb dystonia, spastic …