Schizophrenia
|
0.350 |
AlteredExpression
|
disease |
LHGDN |
Proteomic analysis of dorsolateral prefrontal cortex indicates the involvement of cytoskeleton, oligodendrocyte, energy metabolism and new potential markers in schizophrenia.
|
19110265 |
2009 |
Schizophrenia
|
0.350 |
AlteredExpression
|
disease |
BEFREE |
In the same subjects, PSD95 was unchanged in all three illnesses, while reduced NF-L expression was found in schizophrenia, especially in large cells of layer V. SAP102 expression was reduced in bipolar disorder restricted to small cells of layer II and large cells of layer III in bipolar disorder.
|
18033238 |
2008 |
Schizophrenia
|
0.350 |
AlteredExpression
|
disease |
BEFREE |
We found significant changes in the expression of NF-L in DLPFC, and PSD-95 and PSD-93 in ACC; increased transcript expression was associated with decreased protein expression, suggesting abnormal translation and/or accelerated protein degradation of these molecules in schizophrenia.
|
16702973 |
2006 |
Schizophrenia
|
0.350 |
Biomarker
|
disease |
PSYGENET |
We found significant changes in the expression of NF-L in DLPFC, and PSD-95 and PSD-93 in ACC; increased transcript expression was associated with decreased protein expression, suggesting abnormal translation and/or accelerated protein degradation of these molecules in schizophrenia.
|
16702973 |
2006 |
Schizophrenia
|
0.350 |
Biomarker
|
disease |
PSYGENET |
We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.
|
16023328 |
2005 |
Schizophrenia
|
0.350 |
Biomarker
|
disease |
BEFREE |
In this study, we investigated dopamine-glutamate interactions by measuring the expression of transcripts encoding the subunits for the ionotropic glutamate receptors (NMDA, AMPA and kainate) and five NMDAR-associated intracellular proteins, PSD-93, PSD-95, SAP102, NF-L and yotiao in the dopaminergic neurons in the substantia nigra pars compacta (SNc) of subjects with schizophrenia and a comparison group.
|
14969737 |
2004 |
Unipolar Depression
|
0.310 |
AlteredExpression
|
disease |
BEFREE |
Treatment resistance in major depression is correlated with increased plasma levels of neurofilament light protein reflecting axonal damage.
|
31088642 |
2019 |
Major Depressive Disorder
|
0.310 |
AlteredExpression
|
disease |
BEFREE |
Treatment resistance in major depression is correlated with increased plasma levels of neurofilament light protein reflecting axonal damage.
|
31088642 |
2019 |
Unipolar Depression
|
0.310 |
Biomarker
|
disease |
PSYGENET |
We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.
|
16023328 |
2005 |
Major Depressive Disorder
|
0.310 |
Biomarker
|
disease |
PSYGENET |
We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.
|
16023328 |
2005 |
Unipolar Depression
|
0.310 |
Biomarker
|
disease |
PSYGENET |
In particular, we found decreased NF-L, PSD95, and SAP102 transcripts in bipolar disorder, and decreased SAP102 levels in major depression.
|
15054476 |
2004 |
Major Depressive Disorder
|
0.310 |
Biomarker
|
disease |
PSYGENET |
In particular, we found decreased NF-L, PSD95, and SAP102 transcripts in bipolar disorder, and decreased SAP102 levels in major depression.
|
15054476 |
2004 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
We have analyzed a mouse model of Charcot-Marie-Tooth disease 2E (CMT2E) harboring a heterozygous p.Asn98Ser (p.N98S) Nefl mutation, whose human counterpart results in a severe, early-onset neuropathy.
|
29940160 |
2018 |
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
To perform a cross-sectional study to determine whether plasma neurofilament light chain (NfL) concentration is elevated in patients with Charcot-Marie-Tooth disease (CMT) and if it correlates with disease severity.
|
29321234 |
2018 |
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 |
Six novel CMT-associated gene mutations including BSCL2 (c.461C>T), LITAF (c.32C>G), MFN2 (c.497C>T), GARS (c.794C>T), NEFL (c.280C>T), and MPZ (c.440T>C) were discovered.
|
27862672 |
2017 |
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 |
To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (<i>NEFL</i>).
|
28501821 |
2017 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We identified a similar aggregation-inducing mechanism in NEFL (neurofilament light) and FUS (fused in sarcoma), in which mutations are known to cause aggregation in Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis, respectively.
|
27040688 |
2016 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the NEFL N98S mutation is associated with a DI-CMT phenotype characterized by early-onset sensorimotor neuropathy delaying motor milestones, which may evolve into a severe and complex clinical picture including cerebellar ataxia.
|
26645395 |
2016 |
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 |
Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
|
25552649 |
2015 |