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Frontiers in Cell and Developmental... 2023Neurofilaments (NFs) are the most abundant component of mature neurons, that interconnect with actin and microtubules to form the cytoskeleton. Specifically expressed in... (Review)
Review
Neurofilaments (NFs) are the most abundant component of mature neurons, that interconnect with actin and microtubules to form the cytoskeleton. Specifically expressed in the nervous system, NFs present the particularity within the Intermediate Filament family of being formed by four subunits, the neurofilament light (NF-L), medium (NF-M), heavy (NF-H) proteins and α-internexin or peripherin. Here, we review the current knowledge on NF proteins and neurofilaments, from their domain structures and their model of assembly to the dynamics of their transport and degradation along the axon. The formation of the filament and its behaviour are regulated by various determinants, including post-transcriptional (miRNA and RBP proteins) and post-translational (phosphorylation and ubiquitination) modifiers. Altogether, the complex set of modifications enable the neuron to establish a stable but elastic NF array constituting the structural scaffold of the axon, while permitting the local expression of NF proteins and providing the dynamics necessary to fulfil local demands and respond to stimuli and injury. Thus, in addition to their roles in mechano-resistance, radial axonal outgrowth and nerve conduction, NFs control microtubule dynamics, organelle distribution and neurotransmission at the synapse. We discuss how the studies of neurodegenerative diseases with NF aggregation shed light on the biology of NFs. In particular, the and genes are mutated in Charcot-Marie-Tooth (CMT) disease, the most common inherited neurological disorder of the peripheral nervous system. The clinical features of the CMT forms (axonal CMT2E, CMT2CC; demyelinating CMT1F; intermediate I-CMT) with symptoms affecting the central nervous system (CNS) will allow us to further investigate the physiological roles of NFs in the brain. Thus, NF-CMT mouse models exhibit various degrees of sensory-motor deficits associated with CNS symptoms. Cellular systems brought findings regarding the dominant effect of NF-L mutants on NF aggregation and transport, although these have been recently challenged. Neurofilament detection without NF-L in recessive CMT is puzzling, calling for a re-examination of the current model in which NF-L is indispensable for NF assembly. Overall, we discuss how the fundamental and translational fields are feeding each-other to increase but also challenge our knowledge of NF biology, and to develop therapeutic avenues for CMT and neurodegenerative diseases with NF aggregation.
PubMed: 38164457
DOI: 10.3389/fcell.2023.1275155 -
Romanian Journal of Ophthalmology 2023One of the fields of medicine in which artificial intelligence techniques have made progress is ophthalmology. Artificial intelligence (A.I.) applications for preventing... (Review)
Review
One of the fields of medicine in which artificial intelligence techniques have made progress is ophthalmology. Artificial intelligence (A.I.) applications for preventing vision loss in eye illnesses have developed quickly. Artificial intelligence uses computer programs to execute various activities while mimicking human thought. Machine learning techniques are frequently utilized in the field of ophthalmology. Ophthalmology holds great promise for advancing artificial intelligence, thanks to various digital methods like optical coherence tomography (OCT) and visual field testing. Artificial intelligence has been used in ophthalmology to treat eye conditions impairing vision, including macular holes (M.H.), age-related macular degeneration (AMD), diabetic retinopathy, glaucoma, and cataracts. The more common occurrence of these diseases has led to artificial intelligence development. It is important to get annual screenings to detect eye diseases such as glaucoma, diabetic retinopathy, and age-related macular degeneration. These conditions can cause decreased visual acuity, and it is necessary to identify any changes or progression in the disease to receive appropriate treatment. Numerous studies have been conducted based on artificial intelligence using different algorithms to improve and simplify current medical practice and for early detection of eye diseases to prevent vision loss. AI = artificial intelligence, AMD = age-related macular degeneration, ANN = artificial neural networks, AAO = American Academy of Ophthalmology, CNN = convolutional neural network, DL = deep learning, DVP = deep vascular plexus, FDA = Food and Drug Administration, GCL = ganglion cell layer, IDP = Iowa Detection Program, ML = Machine learning techniques, MH = macular holes, MTANN = massive training of the artificial neural network, NLP = natural language processing methods, OCT = optical coherence tomography, RBS = Radial Basis Function, RNFL = nerve fiber layer, ROP = Retinopathy of Prematurity, SAP = standard automated perimetry, SVP = Superficial vascular plexus, U.S. = United States, VEGF = vascular endothelial growth factor.
Topics: Infant, Newborn; Humans; Artificial Intelligence; Ophthalmology; Diabetic Retinopathy; Vascular Endothelial Growth Factor A; Retinal Perforations; Glaucoma; Macular Degeneration
PubMed: 37876505
DOI: 10.22336/rjo.2023.37