Mitochondrial cristae morphology reflecting metabolism, superoxide formation, redox homeostasis, and pathology

P Ježek, M Jabůrek, B Holendová… - Antioxidants & Redox …, 2023 - liebertpub.com
Significance: Mitochondrial (mt) reticulum network in the cell possesses amazing
ultramorphology of parallel lamellar cristae, formed by the invaginated inner mitochondrial …

Mitochondria and the eye—manifestations of mitochondrial diseases and their management

BS Chen, JP Harvey, MJ Gilhooley, N Jurkute… - Eye, 2023 - nature.com
Historically, distinct mitochondrial syndromes were recognised clinically by their ocular
features. Due to their predilection for metabolically active tissue, mitochondrial diseases …

The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands

A Rocatcher, V Desquiret-Dumas, M Charif, M Ferré… - Brain, 2023 - academic.oup.com
Hereditary optic neuropathies are caused by the degeneration of retinal ganglion cells
whose axons form the optic nerves, with a consistent genetic heterogeneity. As part of our …

Electrodiagnostic tests of the visual pathway and applications in neuro-ophthalmology

A Calcagni, MM Neveu, N Jurkute, AG Robson - Eye, 2024 - nature.com
This article describes the main visual electrodiagnostic tests relevant to neuro-
ophthalmology practice, including the visual evoked potential (VEP), and the full-field …

[HTML][HTML] Treatment and prevention of pathological mitochondrial dysfunction in retinal degeneration and in photoreceptor injury

WH Moos, DV Faller, IP Glavas, DN Harpp… - Biochemical …, 2022 - Elsevier
Pathological deterioration of mitochondrial function is increasingly linked with multiple
degenerative illnesses as a mediator of a wide range of neurologic and age-related chronic …

[HTML][HTML] The interplay between mitochondrial dynamics and autophagy: From a key homeostatic mechanism to a driver of pathology

A Lacombe, L Scorrano - Seminars in Cell & Developmental Biology, 2024 - Elsevier
The complex relationship between mitochondrial dynamics and autophagy illustrates how
two cellular housekeeping processes are intimately linked, illuminating fundamental …

Induced pluripotent stem cells: ex vivo models for human diseases due to mitochondrial DNA mutations

C Chen, MX Guan - Journal of Biomedical Science, 2023 - Springer
Mitochondria are essential organelles for cellular metabolism and physiology in eukaryotic
cells. Human mitochondria have their own genome (mtDNA), which is maternally inherited …

Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber's hereditary optic neuropathy

JR Chen, C Chen, J Chen, Y Ji, Y Lian… - Human Molecular …, 2023 - academic.oup.com
Leber's hereditary optic neuropathy (LHON) is a maternally transmitted eye disease due to
the degeneration of retinal ganglion cells (RGCs). Mitochondrial 11778G> A mutation is the …

Prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume

A Otmani, G Jóhannesson, R Brautaset… - Acta neuropathologica …, 2024 - Springer
Leber's hereditary optic neuropathy (LHON) is driven by mtDNA mutations affecting
Complex I presenting as progressive retinal ganglion cell dysfunction usually in the absence …

Mitochondrial ataxias: molecular classification and clinical heterogeneity

P Lopriore, V Ricciarini, G Siciliano, M Mancuso… - Neurology …, 2022 - mdpi.com
Ataxia is increasingly being recognized as a cardinal manifestation in primary mitochondrial
diseases (PMDs) in both paediatric and adult patients. It can be caused by disruption of …