Results 11 to 20 of about 128,023 (218)

The Human Myelin Proteome and Sub-Metalloproteome Interaction Map: Relevance to Myelin-Related Neurological Diseases

open access: yesBrain Sciences, 2022
Myelin in humans is composed of about 80% lipids and 20% protein. Initially, myelin protein composition was considered low, but various recent proteome analyses have identified additional myelin proteins.
Christos T. Chasapis   +4 more
doaj   +1 more source

Focus on 1,25-Dihydroxyvitamin D3 in the Peripheral Nervous System

open access: yesFrontiers in Neuroscience, 2019
In this review, we draw attention to the roles of calcitriol (1,25-dihydroxyvitamin D3) in the trophicity of the peripheral nervous system. Calcitriol has long been known to be crucial in phosphocalcium homeostasis. However, recent discoveries concerning
Pierre Antoine Faye   +11 more
doaj   +1 more source

RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant

open access: yesOrphanet Journal of Rare Diseases, 2019
Background Ribonucleases (RNases) are crucial for degradation of ribosomal RNA (rRNA). RNASET2 as a subtype of RNASEs is a 256 amino acid protein, encoded by RNASET2 gene located on chromosome six.
Reyhaneh Kameli   +9 more
doaj   +1 more source

Disruption of Sema3A/Plexin‐A1 inhibitory signalling in oligodendrocytes as a therapeutic strategy to promote remyelination

open access: yesEMBO Molecular Medicine, 2019
Current treatments in multiple sclerosis (MS) are modulating the inflammatory component of the disease, but no drugs are currently available to repair lesions.
Fabien Binamé   +12 more
doaj   +1 more source

Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation

open access: yesClinical Case Reports, 2021
We report a patient with complex clinical presentation including multiple neurological symptoms and eye involvement. Upon genetic investigation, the patient was found to carry a novel homozygous mutation in the NDUFS4 gene, thus adding to the ...
Mohammad Vafaee‐Shahi   +6 more
doaj   +1 more source

Myelin lipid metabolism and its role in myelination and myelin maintenance

open access: yesThe Innovation, 2023
Myelin is a specialized cell membrane indispensable for rapid nerve conduction. The high abundance of membrane lipids is one of myelin’s salient features that contribute to its unique role as an insulator that electrically isolates nerve fibers across ...
Joseph A. Barnes-Vélez   +2 more
doaj   +1 more source

Myelin activates FAK/Akt/NF-kappaB pathways and provokes CR3-dependent inflammatory response in murine system. [PDF]

open access: yesPLoS ONE, 2010
Inflammatory response following central nervous system (CNS) injury contributes to progressive neuropathology and reduction in functional recovery. Axons are sensitive to mechanical injury and toxic inflammatory mediators, which may lead to demyelination.
Xin Sun   +11 more
doaj   +1 more source

Emerging evidence for compromised axonal bioenergetics and axoglial metabolic coupling as drivers of neurodegeneration

open access: yesNeurobiology of Disease, 2022
Impaired bioenergetic capacity of the nervous system is thought to contribute to the pathogenesis of many neurodegenerative diseases (NDD). Since neuronal synapses are believed to be the major energy consumers in the nervous system, synaptic derangements
Bogdan Beirowski
doaj   +1 more source

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

open access: yesOrphanet Journal of Rare Diseases, 2018
Background Infantile Sandhoff disease (ISD) is a GM2 gangliosidosis that is classified as a lysosomal storage disorder. The most common symptoms of affected individuals at presentation are neurologic involvement.
Ali Reza Tavasoli   +5 more
doaj   +1 more source

Myelin Peptide–Mannan Conjugate Multiple Sclerosis Vaccines: Conjugation Efficacy and Stability of Vaccine Ingredient

open access: yesVaccines, 2021
Myelin peptide–mannan conjugates have been shown to be potential vaccines in the immunotherapy of multiple sclerosis. The conjugates are comprised from the epitope peptide and the polysaccharide mannan which transfers as a carrier the antigenic peptide ...
John Matsoukas   +8 more
doaj   +1 more source

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