|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
TPP1, encoding the tripeptidyl-peptidase 1 enzyme, is known as the causative gene for late infantile neuronal ceroid lipofuscinosis disease 2 (CLN2 disease).
|
23418007 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
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 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the assay could be easily combined with a TPP1 enzyme assay (for CLN2 disease) and can be potentially multiplexed with a large panel of additional lysosomal enzyme assays by MS/MS for newborn screening and postscreening analysis.
|
30204428 |
2018 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare, progressive, fatal neurodegenerative pediatric disorder resulting from deficiencies of the lysosomal enzyme tripeptidyl peptidase 1 that are caused by mutations in TPP1.
|
31814335 |
2019 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
This observation suggests that the presence of small amounts of TPP-I in lysosomes is able to delay significantly CLN2 disease process.
|
11589013 |
2001 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
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 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
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 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
There are 35 missense mutations among 68 different mutations in the TPP1 gene, which encodes tripeptidyl peptidase I (TPPI), a lysosomal aminopeptidase associated with classic late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).
|
20340139 |
2010 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
Late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a rare lysosomal storage disorder caused by a monogenetic deficiency of tripeptidyl peptidase-1 (TPP1).
|
30323181 |
2018 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
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, 2
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
In vitro studies demonstrated that AAV2CUhCLN2 expressed CLN2 and produced biologically active TPP-I protein of which a fraction was secreted as the pro-TPP-I precursor and was taken up by nontransduced cells (ie, cross-correction).
|
16052206 |
2005 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
These studies indicate that optimal treatment outcomes for CLN2 disease may require delivery of TPP1 systemically as well as directly to the central nervous system.
|
28079862 |
2017 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindness, and early death.
|
28335910 |
2017 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
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 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
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 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We update on the spectrum of TPP1 variants associated with CLN2 disease, comprising 131 unique variants from 389 individuals (717 alleles) collected from the literature review, public databases, and laboratory communications.
|
31283065 |
2019 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
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 |
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 |