|
Amyotrophic Lateral Sclerosis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We observed that a small group of ALS-linked miRNAs that are expressed in human spinal motor neurons directly regulate NEFM and NEFH transcript levels in a manner that is associated with an increase in NFM and NFH protein levels in ALS spinal cord homogenates.
|
30029677 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Comparison of elevated phosphorylated neurofilament heavy chains in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis.
|
29054919 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis.
|
28628244 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NEFH gene encoding the heavy neurofilament protein are usually associated with neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS).
|
28544463 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Cerebrospinal fluid levels of chromogranin A and phosphorylated neurofilament heavy chain are elevated in amyotrophic lateral sclerosis.
|
28185258 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Variant filtering identified potentially deleterious mutations in three known disease genes: DCTN1, KIF5A and NEFH, which have been all associated with similar clinical presentations of amyotrophic lateral sclerosis, Parkinsonism and/or hereditary spastic paraplegia.
|
25957632 |
2015 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
SusceptibilityMutation
|
disease |
ORPHANET |
Genetics of amyotrophic lateral sclerosis: an update.
|
23941283 |
2013 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
PosttranslationalModification
|
disease |
BEFREE |
These results implicate Pin1 as a possible modulator of stress-induced NF-H phosphorylation as seen in neurodegenerative disorders like AD and amyotrophic lateral sclerosis.
|
18635547 |
2008 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
PosttranslationalModification
|
disease |
LHGDN |
Pin1-dependent prolyl isomerization modulates the stress-induced phosphorylation of high molecular weight neurofilament protein.
|
18635547 |
2008 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis.
|
16084104 |
2006 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Neurofilaments and peripherin appear to play some part in motor neuron degeneration, and amyotrophic lateral sclerosis is occasionally associated with mutations of the neurofilament heavy chain gene.
|
10970056 |
2000 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Cytoskeletal abnormalities have been reported in cases of amyotrophic lateral sclerosis (ALS) including abnormal inclusions containing neurofilaments (NFs) and/or peripherin, reduced mRNA levels for the NF light (NF-L) protein and mutations in the NF heavy (NF-H) gene.
|
11090858 |
2000 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Altered ionic conductances in axons of transgenic mouse expressing the human neurofilament heavy gene: A mouse model of amyotrophic lateral sclerosis.
|
10833316 |
2000 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
The finding that extra NF-L can protect against NF-H-mediated pathogenesis is of potential importance for ALS, particularly for cases with NF-H abnormalities.
|
10515233 |
1999 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To investigate the role of neurofilaments in motor neuron disease caused by superoxide dismutase (SOD1) mutations, transgenic mice expressing a amyotrophic lateral sclerosis-linked SOD1 mutant (SOD1(G37R)) were mated with transgenic mice expressing human neurofilament heavy (NF-H) subunits.
|
9689131 |
1998 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Deletions in the KSP repeat region of the NF-H gene have previously been reported in seven patients with sporadic ALS.
|
9875737 |
1998 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Analysis of the KSP repeat of the neurofilament heavy subunit in familiar amyotrophic lateral sclerosis.
|
8618684 |
1996 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To examine whether mutation in neurofilament subunits causes or predisposes to ALS, we used single-strand conformation polymorphism coupled with DNA sequencing to search for mutations in the entirety of the human NF-L, NF-M, and NF-H genes from 100 familial ALS patients known not to carry mutations in superoxide dismutase 1 (SOD1), as well as from 75 sporadic ALS patients.
|
8871580 |
1996 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
First, transgenic mice that overexpress neurofilament proteins show motor neuron degeneration and, second, variant alleles of the neurofilament heavy-subunit gene (NF-H) have been found in some human ALS patients.
|
7536898 |
1995 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
The relevance of the NF-H transgenics as a model of ALS is discussed in light of our current knowledge of motor neuron disease.
|
7566355 |
1995 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We propose that a modest up-regulation of NF-H cross-linkers can result in an impairment of neurofilament transport, causing neuronal swellings with ensuing axonopathy and muscle atrophy, a mechanism of pathogenesis pertinent to the possible etiology of ALS.
|
8462101 |
1993 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|