Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
PosttranslationalModification
|
disease |
BEFREE |
Age-dependent alterations in neuronal activity in the hippocampus and visual cortex in a mouse model of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3).
|
28042098 |
2017 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic linkage studies were undertaken to determine the chromosomal location of the Batten disease mutation (CLN3).
|
2249854 |
1990 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Thus, a single point mutation at residue 295 of the CLN3 protein in protracted JNCL may underlie the phenotype in this form, which differs from that in classic JNCL.
|
9450775 |
1998 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
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 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis.
|
9932957 |
1999 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
We sought to test a novel, hybrid, single- and multi-site clinical trial design in the context of a trial for Juvenile Neuronal Ceroid Lipofuscinosis (CLN3 disease), a very rare pediatric neurodegenerative disorder.
|
31184505 |
2019 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) is a rare, inherited, fatal lysosomal storage childhood disorder.
|
23628560 |
2013 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We contend that the truncated CLN3 protein is unlikely to be expressed in JNCL patients since cellular quality control mechanisms at the RNA and protein levels are likely to degrade the mutant transcript and polypeptides.
|
18678598 |
2008 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
MGD |
There are a number of clinically and genetically distinct forms of ceroid-lipofuscinosis, the most common of which is the juvenile type, also known as Batten disease and CLN3.
|
10440905 |
1999 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neither mutant CLN3 protein nor GalCer were found at the plasma membrane in JNCL fibroblasts.
|
15240864 |
2004 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
MGD |
This model provides us with the unique ability to correlate expression with pathology and behavior, thus facilitating the elucidation of CLN3 function and the pathogenesis of Batten disease.
|
17855597 |
2007 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Potential interaction of CLN3 with subunit c of mitochondrial ATP synthase, the major component of the storage material that accumulates in Batten disease patients, was also tested.
|
11589015 |
2001 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CLN3 gene lead to juvenile neuronal ceroid lipofuscinosis, a pediatric neurodegenerative disorder characterized by visual loss, epilepsy and psychomotor deterioration.
|
21863212 |
2011 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
In studying a mouse model for Batten disease, we report the presence of an autoantibody to glutamic acid decarboxylase (GAD65) in cln3-knockout mice serum that associates with brain tissue but is not present in sera or brain of normal mice.
|
12023984 |
2002 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A model of JBD expressing the predominant human mutation (Cln3 <sup>∆ex7/8</sup> ) has been explored.
|
28812237 |
2017 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our findings are evidence that the Cln3-deficient mouse provides a valuable model for studying Batten disease.
|
10527801 |
1999 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A 1.02-kb genomic deletion in the Batten disease gene CLN3 has been determined to be a common mutation.
|
9490299 |
1998 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL), also known as Batten disease, is the most common form of NCLs.
|
30892110 |
2019 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
MGD |
Our findings are evidence that the Cln3-deficient mouse provides a valuable model for studying Batten disease.
|
10527801 |
1999 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
In juvenile neuronal ceroid-lipofuscinosis (JNCL), sleep disorders are common.
|
10913725 |
2000 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL) is a lysosomal storage disease caused by autosomal recessive mutations in ceroid lipofuscinosis 3 (CLN3).
|
29964296 |
2019 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the <i>CLN3</i> gene.
|
29470438 |
2018 |