Mitochondrial fusion: the machineries in and out

S Gao, J Hu - Trends in cell biology, 2021 - cell.com
Mitochondria are highly dynamic organelles that constantly undergo fission and fusion.
Disruption of mitochondrial dynamics undermines their function and causes several human …

Mitochondrial dynamics in mammalian health and disease

M Liesa, M Palacín, A Zorzano - Physiological reviews, 2009 - journals.physiology.org
The meaning of the word mitochondrion (from the Greek mitos, meaning thread, and
chondros, grain) illustrates that the heterogeneity of mitochondrial morphology has been …

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

C Delettre, G Lenaers, JM Griffoin, N Gigarel… - Nature …, 2000 - nature.com
Abstract Optic atrophy type 1 (OPA1, MIM 165500) is a dominantly inherited optic
neuropathy occurring in 1 in 50,000 individuals 1, 2, 3 that features progressive loss in …

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

C Alexander, M Votruba, UEA Pesch, DL Thiselton… - Nature …, 2000 - nature.com
Autosomal dominant optic atrophy (ADOA) is the most prevalent hereditary optic neuropathy
resulting in progressive loss of visual acuity, centrocoecal scotoma and bilateral temporal …

Mitochondrial dysfunction as a cause of optic neuropathies

V Carelli, FN Ross-Cisneros, AA Sadun - Progress in retinal and eye …, 2004 - Elsevier
Mitochondria are increasingly recognized as central players in the life and death of cells and
especially of neurons. The energy-dependence of retinal ganglion cells (RGC) and their …

Mitochondrial fission and fusion: molecular mechanisms, biological functions, and related disorders

M Al Ojaimi, A Salah, AW El-Hattab - Membranes, 2022 - mdpi.com
Mitochondria are dynamic organelles that undergo fusion and fission. These active
processes occur continuously and simultaneously and are mediated by nuclear-DNA …

Mutation spectrum and splicing variants in the OPA1 gene

C Delettre, JM Griffoin, J Kaplan, H Dollfus, B Lorenz… - Human genetics, 2001 - Springer
Optic atrophy type 1 (OPA1, MIM 165500) is a dominantly inherited optic neuropathy that
features low visual acuity leading in many cases to legal blindness. We have recently …

Dominant optic atrophy: Culprit mitochondria in the optic nerve

G Lenaers, A Neutzner, Y Le Dantec, C Jüschke… - Progress in Retinal and …, 2021 - Elsevier
Dominant optic atrophy (DOA) is an inherited mitochondrial disease leading to specific
degeneration of retinal ganglion cells (RGCs), thus compromising transmission of visual …

Dominant optic atrophy

G Lenaers, C Hamel, C Delettre… - Orphanet journal of rare …, 2012 - Springer
Definition of the disease Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition
characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss …

Oxidative stress in optic neuropathies

B Sanz-Morello, H Ahmadi, R Vohra, S Saruhanian… - Antioxidants, 2021 - mdpi.com
Increasing evidence indicates that changes in the redox system may contribute to the
pathogenesis of multiple optic neuropathies. Optic neuropathies are characterized by the …