|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
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 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
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 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
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 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
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 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells.
|
28878621 |
2017 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
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 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
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 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
Biomarker
|
disease |
MGD |
The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy.
|
25205113 |
2015 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
CLN1 disease (MIM#256730) is caused by mutations in the CLN1 gene, which encodes palmitoyl protein thioesterase 1 (PPT1).
|
25865307 |
2015 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.
|
24997880 |
2014 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
|
23539563 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
|
23374165 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
|
23374165 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis.
|
23857568 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
|
23539563 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
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 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GermlineCausalMutation
|
disease |
ORPHANET |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series.
|
22387303 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
Biomarker
|
disease |
MGD |
The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis.
|
22031903 |
2011 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients.
|
21704547 |
2011 |