Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our laboratory has developed a diagnostic service for classical late infantile neuronal ceroid lipofuscinosis (LINCL) by assay of tripeptidyl-peptidase I (TPP-I) activity using the fluorogenic peptide substrate Ala-Ala-Phe aminomethylcoumarin, followed by a screen for three mutations in the CLN2 gene.
|
11588997 |
2001 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Classical late-infantile neuronal ceroid lipofuscinosis (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by seizures, loss of vision, and progressive motor and mental deterioration.
|
10737126 |
1998 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
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 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The expression of unequivocal TPP-I deficiency in CV demonstrates that enzyme assay is a reliable option for prenatal diagnosis of LINCL.
|
11241534 |
2001 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
The authors conducted a phase I study of late infantile neuronal ceroid lipofuscinosis using an adenoassociated virus serotype 2 (AAV2) vector containing the deficient CLN2 gene (AAV2(CU)hCLN2).
|
20672930 |
2010 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
To confirm clinical suspicion of CLN2 disease, the recommended gold standard for laboratory diagnosis is demonstration of deficient TPP1 enzyme activity (in leukocytes, fibroblasts, or dried blood spots) and the identification of causative mutations in each allele of the TPP1/CLN2 gene.
|
27553878 |
2016 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These data provide new insights into TPP1 function and represent a valuable resource for constructing improved TPP1 variants for treatment of late infantile neuronal ceroid lipofuscinosis.
|
19038967 |
2009 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis.
|
9653647 |
1998 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel nonsense CLN2 mutation (Q509X) in three Italian children with classical late-infantile neuronal ceroid lipofuscinosis (LINCL) from two unrelated families.
|
10862088 |
2000 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Subsequently, we tested if intraventricular delivery of TPP1 to the LINCL mouse was efficacious.
|
18362923 |
2008 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Specifically, we labeled adeno-associated virus serotype 10 expressing the coding sequences for the CLN2 gene implicated in late infantile neuronal ceroid lipofuscinosis with iodine-124.
|
28059103 |
2017 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Recently, the LINCL gene (CLN2) has been found to code for a pepstatin-insensitive lysosomal protease whose activity is deficient in LINCL specimens.
|
10665500 |
2000 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Late infantile neuronal ceroid lipofuscinosis (Jansky-Bielchowsky disease) is a rare disease caused by mutations in the CLN2 gene.
|
22832778 |
2013 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in tripeptidyl-peptidase I (TPP I) underlie the classic late-infantile form of neuronal ceroid lipofuscinoses (CLN2), the most common neurodegenerative disorders of childhood.
|
16895480 |
2006 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
An assay for the CLN2p/TPP-I based on the cleavage of amino terminal tripeptide from G-F-F-L-AFC was applied to prenatal and postnatal diagnosis of LINCL patients and heterozygote carriers.
|
11589010 |
2001 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Finally, a robust brain accumulation of EV carriers and increased lifespan is recorded in late-infantile neuronal ceroid lipofuscinosis (LINCL) mouse model following intraperitoneal administration of EV-TPP1.
|
30997751 |
2019 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Late infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal inherited neurodegenerative disease caused by loss of lysosomal protease tripeptidyl peptidase 1 (TPP1).
|
28345005 |
2017 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Recombinant human tripeptidyl peptidase 1 (cerliponase alfa) is an enzyme-replacement therapy that has been developed to treat neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a rare lysosomal disorder that causes progressive dementia in children.
|
29688815 |
2018 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease).
|
30323181 |
2018 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
These results demonstrate for the first time in a large animal model of LINCL widespread delivery of biochemically active TPP1 to the brain after IT administration along with a decrease in lysosomal storage material.
|
21784683 |
2011 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to characterize the pathological and functional consequences of Tpp1 deficiency in zebrafish and to correlate these with human CLN2 disease, thereby providing a platform for drug discovery.
|
23587805 |
2013 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
As previous reports show that the majority of the TPP1 mutations in NCL resulted in reduction or loss of enzyme activity, we suggest that <i>Dicyostelium</i> could be used as a model system in which to test new reagents that could affect the activity of the protein and ameliorate the disease.
|
28546289 |
2017 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
We consider our TPP1 test on DBS to be a reliable, convenient and inexpensive tool for a first diagnostic step in suspected CLN2 disease.
|
30771299 |
2019 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Late-infantile neuronal ceroid lipofuscinosis (LINCL), an autosomal recessively inherited lysosomal storage disorder characterized by autofluorescent inclusions and rapid progression of neurodegeneration, is due to CLN2 gene mutations.
|
11339651 |
2001 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CLN2 disease is a hereditary neurodegenerative disorder resulting from mutations in CLN2, which encodes the soluble lysosomal enzyme tripeptidyl peptidase-1 (TPP1).
|
24938720 |
2014 |