|
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 |
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 |
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 |
To determine the efficacy of viral-mediated gene therapy, we injected a recombinant adeno-associated virus 2 vector encoding human PPT1 (rAAV-PPT1) intracranially (I.C.) into a murine model of INCL.INCL mice given four I.C. injections of rAAV-PPT1 as newborns exhibited PPT1 activity near the injection sites and decreased secondary elevations of another lysosomal enzyme.
|
15193292 |
2004 |
|
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 |
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 |
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 |
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 |
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 |
Using the PPT1-knockout (PPT1-KO) mice that mimic INCL, we previously reported that one mechanism of apoptosis involves endoplasmic reticulum (ER) stress-induced caspase-12 activation.
|
16644870 |
2006 |
|
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Neuronal death is common to many lysosomal storage diseases but it occurs very early in INCL and we show here that inhibition of PPT1 increases the susceptibility of these cells to apoptotic cell death.
|
11589008 |
2001 |
|
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 |
Palmitoyl-protein thioesterase-2 (PPT2) is a homolog of PPT1, the enzyme that is deficient in the lysosomal storage disorder, infantile neuronal ceroid lipofuscinosis (NCL).
|
10051407 |
1999 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding a lysosomal enzyme, palmitoyl protein thioesterase (PPT), cause infantile NCL (locus CLN1 on chromosome 1p32) or Haltia-Santavuori disease.
|
10446748 |
1999 |
|
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 |
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 |
Infantile neuronal ceroid lipofuscinosis (INCL) is a severe neurodegenerative storage disorder in children caused by mutations in the palmitoyl protein thioesterase gene (PPT1).
|
11520175 |
2001 |
|
Infantile neuronal ceroid lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL) has the earliest onset ( approximately 1.5 years of age) and is caused by a deficiency in the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1).
|
16364693 |
2006 |
|
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 |
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 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 |
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 |
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 |
We identified a single adenine insertion at nucleotide position 169 (A169i) in the CLN1 gene in a family in which the proband suffered from an INCL-like syndrome.
|
9571187 |
1998 |