Infantile neuronal ceroid lipofuscinosis
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
The homozygous sheep were found to have significantly reduced PPT1 enzyme activity and accumulate autofluorescent storage material, as is observed in CLN1 patients.
|
31289301 |
2019 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the depalmitoylating enzyme palmitoyl-protein thioesterase 1 (PPT1) causes infantile neuronal ceroid lipofuscinosis (CLN1), a pediatric neurodegenerative disease.
|
30946007 |
2019 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the depalmitoylation enzyme, palmitoyl protein thioesterase (PPT1), result in the early onset neurodegenerative disease known as Infantile Neuronal Ceroid Lipofuscinosis.
|
28334871 |
2017 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL, or CLN1 disease) is an inherited neurodegenerative storage disorder caused by a deficiency of the lysosomal enzyme palmitoyl protein thioesterase 1 (PPT1).
|
28673981 |
2017 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
To examine the effects of PPT1 deficiency on several well-defined neuronal signaling and cell death pathways, different toxic insults were applied in cerebellar granule neuron cultures prepared from wild type (WT) and palmitoyl protein thioesterase 1-deficient (Ppt1 <sup>-/-</sup> ) mice, a model of infantile CLN1 disease.
|
27722792 |
2017 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
To identify candidate biomarkers, we analyzed autopsy brain and matching CSF samples from controls and three genetically distinct NCLs due to deficiencies in palmitoyl protein thioesterase 1 (CLN1 disease), tripeptidyl peptidase 1 (CLN2 disease), and CLN3 protein (CLN3 disease).
|
28792770 |
2017 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Moreover, these modules were interrelated with the pathological effects associated with loss of PPT1 function, similarly as observed in the <i>Ppt1</i> knockout mice and patients with CLN1 disease.
|
28878621 |
2017 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
We analyzed proteome alterations in the brains of a mouse model of human infantile CLN1 disease-palmitoyl-protein thioesterase 1 (Ppt1) gene knockout and its wild-type age-matched counterpart at different stages: pre-symptomatic, symptomatic and advanced.
|
26707855 |
2016 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
The Ppt1(-/-) mouse is deficient in PPT1 activity and represents a useful animal model of INCL that recapitulates most of the clinical and pathological aspects of the disease.
|
26597320 |
2016 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We reported a girl diagnosed with INCL.Genetic analysis revealed a novel PPT1 mutation c.20_47del28:p.Leu7Hisfs*21.
|
26846731 |
2016 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Results from this study demonstrate quantifiable changes in behavioral functions during progression of murine INCL and suggest that Parkinson-like motor/sensorimotor deficits in Cln1(-/-) mice are not mediated by dopamine deficiency.
|
26238334 |
2015 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
Biomarker
|
disease |
MGD |
Here, we provide the initial characterization of the novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis that we have generated.
|
25205113 |
2015 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we provide the initial characterization of the novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis that we have generated.
|
25205113 |
2015 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
CLN1 disease (MIM#256730) is caused by mutations in the CLN1 gene, which encodes palmitoyl protein thioesterase 1 (PPT1).
|
25865307 |
2015 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL, infantile Batten disease, or infantile CLN1 disease) is caused by a deficiency in the soluble lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1) and has the earliest onset and fastest progression of all the NCLs.
|
23747979 |
2013 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We describe a patient with infantile neuronal ceroid lipofuscinosis with a novel c.776_777insA mutation in CLN1.
|
23857568 |
2013 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL; NCL1, Haltia-Santavuori disease) is caused by mutations in the CLN1/PPT gene which are associated with an early onset INCL phenotype.
|
22387303 |
2012 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
We previously reported that oxidative stress-mediated abnormality in mitochondria activates caspases-9 pathway of apoptosis in INCL fibroblasts and in neurons of Ppt1-knockout (Ppt1-KO) mice, which mimic INCL.
|
21224254 |
2011 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
Biomarker
|
disease |
MGD |
Although the clinical and pathological features of the GFAP(-/-)Vimentin(-/-)PPT1(-/-) mice are similar to INCL, the disease appears earlier and progresses more rapidly.
|
22031903 |
2011 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Although the clinical and pathological features of the GFAP(-/-)Vimentin(-/-)PPT1(-/-) mice are similar to INCL, the disease appears earlier and progresses more rapidly.
|
22031903 |
2011 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
PPT1 nonsense-mutations account for approximately 31% of INCL patients in the US.
|
21704547 |
2011 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Ppt1 function is well conserved from humans to flies; thus the INCL pathologies may be due, in part, to the accumulation of various embryonic neural defects similar to that of Drosophila.
|
21203506 |
2010 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Early intervention with cellular transplants of hCNS-SCns into the brains of INCL patients may supply a continuous and long-lasting source of the missing PPT1 and provide some therapeutic benefit through protection of endogenous neurons.
|
19733542 |
2009 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
These data indicate neuron-specific changes for F(1)-complex in the Ppt1-deficient cells and give clues for a possible link between lipid metabolism and neurodegeneration in INCL.
|
18245779 |
2008 |
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Palmitoyl-protein thioesterase-1 (PPT1) deficiency causes infantile neuronal ceroid lipofuscinosis (INCL), a devastating childhood neurodegenerative storage disorder.
|
18948101 |
2008 |