Mutant mice with neurofilament abnormalities have phenotypes resembling amyotrophic lateral sclerosis.
2.
This was also shown to adversely affect the assembly of the neurofilament network.
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This gene encodes the medium neurofilament protein.
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Increasing of neurofilament phosphorylation has been reported
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Neuron-specific enolase and axonal heavy chain neurofilament blood markers may predict conversion to affected status.
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Researchers first identified this mutant neurofilament gene in some of the 10 percent of ALS patients whose disease is familial.
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NEFL is a neurofilament gene that has been shown to be related to hypotrophy of axons in motorneurons when mutated.
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There are three types of intercellular or axonal electrical communication : the microtubular transport system, neurofilament transport system and microfilament transport system.
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Phosphorylation is thought to contribute to the neurofilament-mediated increase of axonal caliber by the binding of divalent cations between the sidearms of adjacent filaments
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The level of neurofilament gene expression seems to directly control axonal diameter, which in turn controls how fast electrical signals travel down the axon.
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