Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis.
|
16621647 |
2006 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].
|
12698559 |
2003 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.
|
18283468 |
2008 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Conversely, a specimen previously classified as juvenile NCL lacks pepinase activity and is associated with mutations in CLN2.
|
10428067 |
1999 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
|
31283065 |
2019 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
MGD |
Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis.
|
18343701 |
2008 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
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 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thus, CLN2 represents a fourth distinct genetic locus involved in the pathogenesis of NCL.
|
7668361 |
1995 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
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 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2).
|
12125808 |
2002 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We determined that the mutations 223A --> G and 451C --> T in CLN1, T523-1G --> C, and 636 C --> T in CLN2, and deletion of a 1.02-kb genomic fragment in CLN3 are the five common mutations for NCL.
|
11142754 |
2000 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
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 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
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 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders.
|
11589013 |
2001 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis.
|
19038967 |
2009 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs.
|
26143525 |
2015 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
|
12376936 |
2002 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, TPP1 activity in serum only consisted of a neutral form, no acidic form, and was not deficient in any NCL 2 patient.
|
29599076 |
2018 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
The most heterogeneous subtype of neuronal ceroid lipofuscinosis comprises the late infantile variant, which, in addition to the classic CLN2, was reported in children with CLN5, CLN6, CLN7/MFSD8, and CLN8 genes.
|
22964447 |
2012 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations of the CLN2 gene encoding a soluble lysosomal enzyme, tripeptidyl peptidase 1 (TPP1), cause late infantile NCL/CLN2 disease.
|
28464005 |
2017 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.
|
9788728 |
1998 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mouse gene knockout models for the CLN2 and CLN3 forms of ceroid lipofuscinosis.
|
11588979 |
2001 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we report successful reprograming of patient fibroblasts into induced pluripotent stem cells (iPSCs) for the two most common NCL subtypes: classic late-infantile NCL, caused by TPP1(CLN2) mutation, and juvenile NCL, caused by CLN3 mutation.
|
24271013 |
2014 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression.
|
28079862 |
2017 |