Juvenile Neuronal Ceroid Lipofuscinosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Further analysis of all reported TPP1 mutations revealed that the LINCL group had a significantly higher frequency of truncating and invariant splice-site mutations than the JNCL group.
|
31059981 |
2019 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
In 2017, cerliponase alfa (Brineura), a tripeptidyl peptidase enzyme replacement therapy, became the first globally approved treatment for CLN2 Batten disease.
|
30783219 |
2019 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
These results suggest that the TOR signalling pathway is responsible for the cytopathological outcomes in the <i>Dictyostelium</i> Tpp1 model of Batten disease.
|
31100984 |
2019 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Herein, the use of macrophage-derived EVs for brain delivery of a soluble lysosomal enzyme tripeptidyl peptidase-1, TPP1, to treat a lysosomal storage disorder, Neuronal Ceroid Lipofuscinoses 2 (CLN2) or Batten disease, is investigated.
|
30997751 |
2019 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes respectively.
|
30541466 |
2018 |
Juvenile 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 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to compare quantitative T2-values of brain tissue in CLN2 and CLN3 patients with reference values from age-matched normal subjects.
|
23263384 |
2013 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Late infantile neuronal ceroid lipofuscinosis (LINCL), one form of Batten's disease is a progressive neurodegenerative disorder resulting from a CLN2 gene mutation.
|
24015292 |
2013 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.600 |
Biomarker
|
disease |
MGD |
Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis.
|
18343701 |
2008 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
The results showed that ceroid-lipofuscinosis, neuronal 2, late infantile (CLN2; P = 0.044) and ceroid-lipofuscinosis, neuronal 3, juvenile (CLN3, which related to visual failure; P = 0.012) were significantly downregulated in the orbital fat of patients with TED.
|
18552385 |
2008 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.600 |
Biomarker
|
disease |
MGD |
A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration.
|
15483130 |
2004 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
To provide tools for studying the mechanisms underlying the disease pathologies and for screening potential therapeutic interventions, work is under way to develop mouse models for the CLN2 and CLN3 disorders.
|
11588979 |
2001 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In the last five years, specific mutations have been defined in Lafora disease (gene for laforin or dual specificity phosphatase in 6q24), Unverricht-Lundborg disease (cystatin B in 21q22.3), Jansky-Bielschowsky ceroid lipofuscinoses (CLN2 gene for tripeptidyl peptidase 1 in 11q15), Finnish variant of late infantile ceroid lipofuscinoses (CLN5 gene in 13q21-32 encodes 407 amino acids with two transmembrane helices of unknown function), juvenile ceroid lipofuscinoses or Batten disease (CLN3 gene in 16p encodes 438 amino acid protein of unknown function), a subtype of Batten disease and infantile ceroid lipofuscinoses of the Haltia-Santavuori type (both are caused by mutations in palmitoyl-protein thiosterase gene at 1p32), dentadorubropallidoluysian atrophy (CAG repeats in a gene in 12p13.31) and the mitochondrial syndrome MERRF (tRNA Lys mutation in mitochondrial DNA).
|
11579433 |
2001 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.600 |
Biomarker
|
disease |
CTD_human |
Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis.
|
11589009 |
2001 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.600 |
Biomarker
|
disease |
CTD_human |
Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases.
|
10320038 |
1999 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Classic late-infantile NCL (Jansky-Bielschowsky disease) is caused by mutations in a gene encoding a pepstatin-insensitive lysosomal peptidase (CLN2 on chromosome 11p15), and juvenile-onset NCL (Batten disease) is caused by mutations in a gene encoding a 438-amino-acid membrane protein (CLN3 on chromosome 16p12) of unknown function.
|
10446748 |
1999 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Pulse-chase labelling of fibroblasts and lymphoblastoid cell lines with [35S]cysteine revealed the presence of lipid [35S]cysteine material in CLN1 fibroblasts and not in controls, CLN2 or CLN3 patients or other patients with lipidosis.
|
9151317 |
1997 |