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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
The juvenile form of the disease (onset age 4-8 years with visual loss) is usually caused by mutations in the CLN3 gene, but some cases have been shown to be due to specific mutations in the CLN1 or CLN2 genes, which are usually associated with NCL with onset in infancy or late infancy, respectively.
|
16720047 |
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 |
CausalMutation
|
disease |
CLINVAR |
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
|
15317752 |
2004 |
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 |
GeneticVariation
|
disease |
LHGDN |
[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].
|
12698559 |
2003 |
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 |
GeneticVariation
|
disease |
LHGDN |
R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.
|
12950156 |
2003 |
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 |
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 |
AlteredExpression
|
disease |
LHGDN |
Herein, we report that three NCL disease forms with similar tissue pathology are connected at the molecular level: CLN5 polypeptides directly interact with the CLN2 and CLN3 proteins based on coimmunoprecipitation and in vitro binding assays.
|
12134079 |
2002 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Herein, we report that three NCL disease forms with similar tissue pathology are connected at the molecular level: CLN5 polypeptides directly interact with the CLN2 and CLN3 proteins based on coimmunoprecipitation and in vitro binding assays.
|
12134079 |
2002 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mouse gene knockout models for the CLN2 and CLN3 forms of ceroid lipofuscinosis.
|
11588979 |
2001 |
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 |
GeneticVariation
|
disease |
BEFREE |
The CLN1, CLN2 and CLN3 genes are associated to the infantile, late infantile and juvenile forms of NCL, respectively.
|
11589016 |
2001 |