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 |
Biomarker
|
disease |
BEFREE |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Although functions are defined for some of the soluble proteins that are defective in NCL (cathepsin D, PPT1, and TPP1), the primary function of the other proteins defective in NCLs (CLN3, CLN5, CLN6, CLN7, and CLN8) remain poorly defined.
|
20680390 |
2011 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
CTD_human |
Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis.
|
11589009 |
2001 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
Among the now eight genetic types of neuronal ceroid-lipofuscinoses (NCL), CLN1 to CLN8, CLN2 is considered classic late-infantile NCL.
|
11699562 |
2001 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.
|
19793312 |
2009 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
|
9295267 |
1997 |
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 |
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 |
Characterization of the mouse Cln2 gene will facilitate generation of a mouse model for late-infantile ceroid-lipofuscinosis by gene targeting and identification of functionally important regions of the Cln2 protein.
|
10556422 |
1999 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
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 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Clinical features, histological findings, and genetic study reveal that CLN2 type is the most common form of neuronal ceroid lipofuscinosis.
|
17690061 |
2007 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
LHGDN |
Clinical features, histological findings, and genetic study reveal that CLN2 type is the most common form of neuronal ceroid lipofuscinosis.
|
17690061 |
2007 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
CLN2 disease is a genetic disorder caused by dysfunction of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1) that belongs to the neuronal ceroid lipofuscinoses (NCL) and leads to epilepsy, dementia, and death in young persons.
|
30771299 |
2019 |
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 |
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 |
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 |
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 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
Four sub-types of childhood NCL were identified: infantile NCL (INCL) with granular osmiophilic inclusions (GROD) and PPT1 deficiency (1/26), classical LINCL with curvilinear (CV) inclusions and tripeptidyl peptidase (TPP1) deficiency (3/26), variant late infantile NCL (LINCL) with fingerprint/curvilinear (FP/CV) inclusions and normal TPP1 enzyme activity (11/26) and juvenile NCL (JNCL) with a mix of FP/CV (11/26).
|
12796825 |
2003 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.
|
20340139 |
2010 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
Gemfibrozil has shown efficacy in an animal model of NCL known as CLN2 (late infantile classic juvenile) and has been shown to be safe for lowering lipids in children.
|
28623936 |
2017 |