Results 41 to 50 of about 68,124 (256)
Microtubules, Axonal Transport, and Neuropathy [PDF]
New England Journal of Medicine, 2011 Understanding the function of proteins rendered mutant in disease provides insight into the mechanism of disease. Recent studies implicate the axonal cytoskeleton in neuropathies.
Erika L F, Holzbaur, Steven S, Scherer
openaire +2 more sources
FEBS Open Bio, EarlyView.The cytoskeleton‐mediated transport of mitochondria via tunnelling nanotubes restores respiration, increases ATP production, rescues cells from apoptosis, activates the AKT/mTOR signalling pathway, promotes cell migration and invasiveness, contributes to cancer progression and treatment resistance.
Stanislava Martínková, Jan Trnka
wiley +1 more source
Axonal Transport as an In Vivo Biomarker for Retinal Neuropathy
Cells, 2020 We illuminate a possible explanatory pathophysiologic mechanism for retinal cellular neuropathy by means of a novel diagnostic method using ophthalmoscopic imaging and a molecular imaging agent targeted to fast axonal transport.
Lucia G. Le Roux +6 more
doaj +1 more source
A Gate Keeper for Axonal Transport [PDF]
Cell, 2009 The axon and dendritic arbor of neurons require different sets of membrane proteins to carry out their functions. In this issue, Song et al. (2009) describe how a cytoplasmic diffusion barrier in the axon initial segment of rat hippocampal neurons ensures that only axonal (and not dendritic) membrane proteins enter the axon.
Xiao, Shaohua, Jan, Lily Yeh
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Neurobiology of Disease, 2013 NAP (davunetide) is a novel neuroprotective compound with mechanism of action that appears to involve microtubule (MT) stabilization and repair. To evaluate, for the first time, the impact of NAP on axonal transport in vivo and to translate it to ...
Yan Jouroukhin +5 more
doaj +1 more source
Cell Reports, 2020 Summary: BORC is a multisubunit complex previously shown to promote coupling of mammalian lysosomes and C. elegans synaptic vesicle (SV) precursors (SVPs) to kinesins for anterograde transport of these organelles along microtubule tracks. We attempted to
Raffaella De Pace +7 more
doaj +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
eLife, 2015 Synaptic vesicles (SVs) fuse at active zones (AZs) covered by a protein scaffold, at Drosophila synapses comprised of ELKS family member Bruchpilot (BRP) and RIM-binding protein (RBP).
Matthias Siebert +19 more
doaj +1 more source