|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Finally, our data agree with previous findings, suggesting a key role of peripherin in the ALS pathogenesis, thus highlighting that DRG neurons mirror some dysfunctions found in motor neurons.
|
26908600 |
2016 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Taken together, this study shows that ALS-associated peripherin isoforms form dynamic cytoplasmic and intranuclear inclusions, effect changes in local endogenous protein expression, and afford cytoprotection against oxidative stress.
|
24907400 |
2014 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Further studies are necessary to define the mechanisms through which the mutant peripherin could cause ALS phenotype.
|
20363051 |
2011 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Peripherin is associated with the disease amyotrophic lateral sclerosis (ALS), thus establishing a link between syncoilin and ALS.
|
20587592 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
AlteredExpression
|
disease |
LHGDN |
In the current study, peripherin splice variants were identified by reverse transcription-PCR of human neuronal RNA and comparisons in expression made between control and ALS spinal cord using Western blot analysis and immunocytochemistry.
|
18287500 |
2008 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
In the current study, peripherin splice variants were identified by reverse transcription-PCR of human neuronal RNA and comparisons in expression made between control and ALS spinal cord using Western blot analysis and immunocytochemistry.
|
18287500 |
2008 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Peripherin is a type III neuronal intermediate filament protein detected within the intraneuronal inclusions characteristic of amyotrophic lateral sclerosis.
|
18205747 |
2008 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Here we provide a review of the basic biology of neurofilaments and peripherin and the evidence linking them with ALS disease pathogenesis.
|
17045786 |
2007 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
These results demonstrate that peripherin overexpression can cause defective transport of type IV NF proteins, a phenomenon that may account for the progressive formation of ALS-like spheroids in axons.
|
16787413 |
2006 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Morphologically, this is evident as Bunina bodies, ubiquitin-immunoreactive fibrils or aggregates, neurofilamentous aggregates, mutant copper/zinc superoxide dismutase (SOD1) aggregates in familial ALS variants harboring mutations in SOD1, peripherin-immunoreactive aggregates within spinal motor neurons and as neuroaxonal spheroids, and in an increasingly greater population of patients with ALS with cognitive impairment, both intra- and extraneuronal tau aggregates.
|
16106213 |
2005 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this paper, we report the identification of a homozygous mutation in the peripherin gene (PRPH) in a patient with amyotrophic lateral sclerosis (ALS).
|
15446584 |
2004 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we screened for sequence variants of the peripherin gene (PRPH) in a cohort of ALS patients including familial and sporadic cases.
|
15322088 |
2004 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This evidence suggests that expression of neurotoxic splice variants of peripherin may contribute to the neurodegenerative mechanism in ALS.
|
12642616 |
2003 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
In previous studies, we showed that overexpression of peripherin, a neuronal intermediate filament (IF) protein, in mice deficient for neurofilament light (NF-L) subunits induced a progressive adult-onset degeneration of spinal motor neurons characterized by the presence of IF inclusion bodies reminiscent of axonal spheroids found in amyotrophic lateral sclerosis (ALS).
|
12641746 |
2003 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
A pathological hallmark of both sporadic and familial ALS is the presence of abnormal accumulations of neurofilament and peripherin proteins in motor neurons.
|
12595144 |
2002 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
These results together with the detection of peripherin inclusions at early stage of disease in mice expressing mutant SOD1 suggest that IF inclusions containing peripherin may play a contributory role in ALS pathogenesis.
|
11090858 |
2000 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
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 |
Biomarker
|
disease |
BEFREE |
Recently, we reported that a deficiency in neurofilament light subunit (NF-L), a phenomenon associated with ALS, promoted the formation of IF inclusions with ensuing motor neuron death in transgenic mice overproducing peripherin, a type III IF protein detected in axonal inclusions of ALS patients.
|
10884316 |
2000 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Amyotrophic Lateral Sclerosis
|
0.500 |
SusceptibilityMutation
|
disease |
ORPHANET |
|
|
|