Red flags in primary mitochondrial diseases: what should we recognize?

F Conti, S Di Martino, F Drago, C Bucolo… - International Journal of …, 2023 - mdpi.com
Primary mitochondrial diseases (PMDs) are complex group of metabolic disorders caused
by genetically determined impairment of the mitochondrial oxidative phosphorylation …

Mitochondrial-targeted antioxidants attenuate TGF-β2 signaling in human trabecular meshwork cells

VR Rao, JD Lautz, S Kaja, EM Foecking… - … & visual science, 2019 - iovs.arvojournals.org
Purpose: POAG is a progressive optic neuropathy that is currently the leading cause of
irreversible blindness worldwide. While the underlying cause of POAG remains unclear, TGF …

The neurometabolic profiles of GABA and Glutamate as revealed by proton magnetic resonance spectroscopy in type 1 and type 2 diabetes

OC d'Almeida, IR Violante, B Quendera, C Moreno… - PLoS …, 2020 - journals.plos.org
Glucose metabolism is pivotal for energy and neurotransmitter synthesis and homeostasis,
particularly in Glutamate and GABA systems. In turn, the stringent control of …

Paeoniflorin alleviates TGF-β2-mediated extracellular matrix remodeling and oxidative stress in human trabecular meshwork cells

Y Hu, K Ge, Y Du - International Ophthalmology, 2024 - Springer
Background The multifunctional profibrotic cytokine transforming growth factor-beta2 (TGF-
β2) is implicated in the pathophysiology of primary open angle glaucoma. Paeoniflorin …

Identifying therapeutic compounds for autosomal dominant optic atrophy (ADOA) through screening in the nematode C. elegans

F Borbolis, K Palikaras - Methods in cell biology, 2024 - pubmed.ncbi.nlm.nih.gov
Autosomal Dominant Optic Atrophy (ADOA) is a rare neurodegenerative condition,
characterized by the bilateral loss of vision due to the degeneration of retinal ganglion cells …

Genetic eye diseases, focus on ophthalmological manifestations of mitochondrial diseases

P Widgrén - 2023 - oulurepo.oulu.fi
Ophthalmological manifestations are common in mitochondrial diseases. All parts of the eye
can be affected, and symptoms can appear at any age making diagnostics challenging. The …

Investigation of the Excitatory/Inhibitory balance in neurodegenerative movement disorders: a 1H-MRS study

JRA Pereira - 2021 - baes.uc.pt
Neurodegenerative diseases span several conditions characterized by a continuous and
massive neural degeneration in distinct brain regions. The prevalence of these disorders is …