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NEFL wt Allele

Known as: FLJ53642, NF-L, CMT2E 
Human NEFL wild-type allele is located in the vicinity of 8p21 and is approximately 6 kb in length. This allele, which encodes neurofilament light… Expand
National Institutes of Health

Related topics

Related topics

10 relations
8p21Cell MovementCharcot-Marie-Tooth disease, demyelinating, Type 1FCytokinesis
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Broader (1)

NEFL gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next‐generation sequencing and review of the literature
Neurofilaments are neuron‐specific intermediate filaments essential for the radial growth of axons during development and the… Expand
2016
2016
Peripheral nervous system alterations in disease and injury
Charcot-Marie-Tooth (CMT) is the most common inherited neuropathy of the PNS affecting approximately 2.8 million people. CMT is… Expand
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2014
2014
Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E.
Mutations in the neurofilament light chain (NEFL) gene mostly cause autosomal dominant axonal Charcot-Marie- Tooth neuropathy… Expand
2013
2013
14-3-3 proteins interact with neurofilament protein-L and regulate dynamic assembly of neurofilaments
Summary Neurofilament protein-L (NF-L) is the core component of neurofilaments. Recent studies indicate that the NF-L mutations… Expand
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Review
2004
Review
2004
Functions of intermediate filaments in neuronal development and disease.
Five major types of intermediate filament (IF) proteins are expressed in mature neurons: the three neurofilament proteins (NF-L… Expand
2003
2003
The nNOS inhibitor, AR‐R17477AR, prevents the loss of NF68 immunoreactivity induced by methamphetamine in the mouse striatum
The present study examined the time‐course and regionally‐selective changes in the levels of the neurofilament protein NF68 in… Expand
2002
2002
Oestrogen Regulates Neurofilament Expression in a Subset of Anterior Pituitary Cells of the Adult Female Rat
It is the prevailing view that the neurohypophysis derives from neural crest while the pituitary's anterior lobe is of ectodermal… Expand
2000
2000
Content change of neurofilament protein subunits in experimental brain diffuse axonal injury by lateral head rotation.
OBJECTIVE: To explore the content change of neurofilament (NF) protein subunits in the experimental brain diffuse axonal injury… Expand
1996
1996
[Immunohistochemical findings in Huntington's Chorea: report of 9 cases].
The results of an immunohistochemical investigation on neostriatum of 9 cases of Huntington's disease are reported. In all cases… Expand
Highly Cited
1994
Highly Cited
1994
Neurofilament 68 and neurofilament 200 protein levels decrease after traumatic brain injury.
We have examined the effect of lateral cortical impact injury on the levels of axonal cytoskeletal proteins in adult rats… Expand
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