Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
28 disease-causing missense mutations are analyzed in the light of the TPP1 structure providing insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.
|
19038966 |
2009 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.
|
10356316 |
1999 |
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 |
Biomarker
|
disease |
BEFREE |
Late infantile neuronal ceroid lipofuscinosis (LINCL) is caused by the deficiency of the lysosomal tripeptidyl peptidase-I encoded by CLN2.
|
14736728 |
2004 |
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 |
CLN2 disease is a hereditary neurodegenerative disorder resulting from mutations in CLN2, which encodes the soluble lysosomal enzyme tripeptidyl peptidase-1 (TPP1).
|
24938720 |
2014 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) is a rare neurodegenerative disease caused by mutations in the Cln2 gene that leads to deficiency or loss of function of the tripeptidyl peptidase 1 (TPP1) enzyme.
|
28199020 |
2017 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
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 |
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 |
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 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Tripeptidyl aminopeptidase I (TPPI) is a crucial lysosomal enzyme that is deficient in the fatal neurodegenerative disorder called classic late-infantile neuronal ceroid lipofuscinosis (LINCL).
|
20689811 |
2010 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
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 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).
|
27491216 |
2016 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.
|
12950156 |
2003 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
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 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
CTD_human |
A recent study has shown mutations in CLN2 gene, that encodes a novel lysosomal pepstatin-insensitive proteinase (LPIP), in the pathophysiology of late-infantile neuronal ceroid lipofuscinosis (LINCL).
|
10320038 |
1999 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
A total average dose of 2.5 10(12) particle units of an adeno-associated virus (AAV) serotype 2 vector expressing the human CLN2 cDNA (AAV2 CU h-CLN2) was administered to 12 locations in the CNS of 10 children with LINCL.
|
18473686 |
2008 |
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 |
GeneticVariation
|
disease |
BEFREE |
Analysis of archival specimens indicates that several specimens previously classified as LINCL have enzyme activity and thus disease is unlikely to arise from mutations in CLN2.
|
10428067 |
1999 |
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 |
GeneticVariation
|
disease |
BEFREE |
Association of the R447H mutation with a delayed onset form of LINCL in two separate families raised the question of whether R447H CLN2 retains residual activity.
|
11462245 |
2001 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis.
|
10679303 |
2000 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Chronic treatment of LINCL mice with TPP1 and K16ApoE extended the lifespan from 126 to >294 days, diminished pathology, and slowed locomotor dysfunction.
|
28456380 |
2017 |
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 |