Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous disorder that has been associated with alterations of several proteins: peripheral myelin protein 22, myelin protein zero, connexin 32, early growth response factor 2, periaxin, myotubularin related protein 2, N-myc downstream regulated gene 1 product, neurofilament light chain, and kinesin 1B.
|
11835375 |
2002 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth neuropathy (CMT) 2E/1F is caused by mutations in the neurofilament light-chain polypeptide (NEFL) gene.
|
27649278 |
2017 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.
|
19158810 |
2009 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
NEFL mutations have been previously linked to Charcot-Marie-Tooth disease in humans.
|
25264603 |
2014 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
|
25552649 |
2015 |
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
MGD |
Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
|
25552649 |
2015 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
|
25877835 |
2015 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth disease.
|
29191368 |
2018 |
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
Although evidence suggests that there is a correlation between NEFL expression and cancer, studies regarding the role of the NEFL protein have been mostly limited to neurological diseases, such as Charcot-Marie-Tooth's disease (CMT).
|
23992471 |
2014 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Because the I214M amino acid substitution in the NEFL protein was not detected in a CMT affected brother of the proband, its pathogenic effect became unclear.
|
16930284 |
2006 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
|
17620486 |
2007 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
LHGDN |
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
|
17620486 |
2007 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Defective transport of the mutant NFL subunits was observed for all the CMT-linked NFL mutations, but the characteristics of this defect also depended on the specific mutation.
|
15282209 |
2004 |
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
Early sensory pathology in CMT2E could provide a unifying hypothesis for the convergence of pathology observed in CMT.
|
27643807 |
2017 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
For example, neurofilament light protein (NEFL) mutants causing Charcot-Marie-Tooth disease induce misassembly of neurofilaments.
|
23618875 |
2013 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Hearing impairment is often linked to CMT due to pathogenic variants of NEFL, especially p.(Glu90Lys) and p.(Asn98Ser), and in our case p.(Glu90Gly).
|
30734407 |
2019 |
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
In MPZ-associated CMT, increased CSAs were found in the median nerve at wrist and in the great auricular nerve, whereas it was not increased in patients with NEFL-associated CMT.
|
25091364 |
2015 |
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
In summary, we developed a human tridimensional in vitro system that models length-dependent axonopathies, recapitulates key pathophysiologic features of CMT2E, and should facilitate the identification of new therapeutic compounds for CMT.
|
31715019 |
2019 |
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
In the context of inherited neuropathy, giant axons are typically associated with autosomal recessive giant axonal neuropathy caused by gigaxonin mutations but have also been reported in association with NEFL- and SH3TC2-associated Charcot-Marie-Tooth disease.
|
22734908 |
2012 |
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
iPSC lines from patients with two distinct forms of axonal CMT (CMT2A and CMT2E) were differentiated into spinal cord motor neurons and used to study axonal structure and function and electrophysiological properties in vitro.
|
25448007 |
2015 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
|
12566280 |
2003 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the neurofilament light chain (NEFL) gene mostly cause autosomal dominant axonal Charcot-Marie- Tooth neuropathy (CMT2E).
|
24887401 |
2014 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
LHGDN |
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.
|
18758688 |
2008 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that alterations in the formation of a normal IF network in neurons elicited by these NFL mutations may contribute to the development of Charcot-Marie-Tooth neuropathy.
|
12432080 |
2002 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Recently a set of mutations in the neurofilament light gene (NF-L) was reported in patients suffering from axonal and demyelinating forms of Charcot-Marie-Tooth disease (CMT1 and CMT2).
|
15535039 |
2004 |