Mitochondrial retinopathies

M Zeviani, V Carelli - International journal of molecular sciences, 2021 - mdpi.com
The retina is an exquisite target for defects of oxidative phosphorylation (OXPHOS)
associated with mitochondrial impairment. Retinal involvement occurs in two ways, retinal …

Therapeutic options in hereditary optic neuropathies

G Amore, M Romagnoli, M Carbonelli, P Barboni… - Drugs, 2021 - Springer
Options for the effective treatment of hereditary optic neuropathies have been a long time
coming. The successful launch of the antioxidant idebenone for Leber's Hereditary Optic …

De novo sequence and copy number variants are strongly associated with Tourette disorder and implicate cell polarity in pathogenesis

S Wang, JD Mandell, Y Kumar, N Sun, MT Morris… - Cell reports, 2018 - cell.com
We previously established the contribution of de novo damaging sequence variants to
Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence …

Cardioprotective role of melatonin in acute myocardial infarction

Z Fu, Y Jiao, J Wang, Y Zhang, M Shen… - Frontiers in …, 2020 - frontiersin.org
Melatonin is a pleiotropic, indole secreted, and synthesized by the human pineal gland.
Melatonin has biological effects including anti-apoptosis, protecting mitochondria, anti …

Mitochondrial morphofunction in mammalian cells

EP Bulthuis, MJW Adjobo-Hermans… - Antioxidants & redox …, 2019 - liebertpub.com
Significance: In addition to their classical role in cellular ATP production, mitochondria are of
key relevance in various (patho) physiological mechanisms including second messenger …

Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management

NJ Newman, P Yu-Wai-Man, V Biousse… - The Lancet …, 2023 - thelancet.com
Hereditary optic neuropathies result from defects in the human genome, both nuclear and
mitochondrial. The two main and most recognised phenotypes are dominant optic atrophy …

[HTML][HTML] SIRT3 promotes metabolic maturation of human iPSC-derived cardiomyocytes via OPA1-controlled mitochondrial dynamics

R Wang, H Xu, B Tan, Q Yi, Y Sun, H Xiang… - Free Radical Biology …, 2023 - Elsevier
The metabolic patterns and energetics of human induced pluripotent stem cell-derived
cardiomyocytes (HiPSC-CMs) are much less than those of normal adult cardiomyocytes …

AAV-PHP. eB transduces both the inner and outer retina with high efficacy in mice

A Palfi, N Chadderton, S Millington-Ward, I Post… - … Therapy-Methods & …, 2022 - cell.com
Recombinant adeno-associated virus (AAV) vectors are one of the main gene delivery
vehicles used in retinal gene therapy approaches; however, there is a need to further …

A review for the correlation between optic atrophy 1-dependent mitochondrial fusion and cardiovascular disorders

BF Yao, XJ Luo, J Peng - International Journal of Biological …, 2024 - Elsevier
Mitochondrial dynamics homeostasis is sustained by continuous and balanced fission and
fusion, which are determinants of morphology, abundance, biogenesis and mitophagy of …

Ferroptosis: A potential therapeutic target for Alzheimer's disease

L Yang, J Nao - Reviews in the Neurosciences, 2023 - degruyter.com
The most prevalent dementia-causing neurodegenerative condition is Alzheimer's disease
(AD). The aberrant buildup of amyloid β and tau hyperphosphorylation are the two most well …