|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.
|
9571187 |
1998 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.
|
19302939 |
2009 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
[Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis].
|
17044973 |
2006 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
|
14997939 |
2004 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.
|
19941651 |
2009 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis.
|
10781062 |
2000 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
|
10477428 |
1999 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.
|
10649502 |
2000 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.
|
11440996 |
2001 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Translation initiation at non-AUG triplets in mammalian cells.
|
2538469 |
1989 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
|
9664077 |
1998 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis.
|
11520175 |
2001 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).
|
10679943 |
2000 |
|
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 |
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
|
23374165 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Structural basis of neuronal ceroid lipofuscinosis 1.
|
19793631 |
2010 |