|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
|
23266810 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.
|
11241479 |
2001 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis.
|
22221116 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.
|
26032578 |
2015 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (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 |
UNIPROT |
New mutations in the neuronal ceroid lipofuscinosis genes.
|
11589012 |
2001 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.
|
10356316 |
1999 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH.
|
11054422 |
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 |
UNIPROT |
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 |
CausalMutation
|
disease |
CLINVAR |
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
|
10330339 |
1999 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
|
15317752 |
2004 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses.
|
22245569 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
|
19201763 |
2009 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
|
12376936 |
2002 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
|
10665500 |
2000 |
|
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 |