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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association.
|
7806237 |
1994 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In an attempt to understand the molecular nature of Batten disease, we have examined the amino acid sequence of the affected CLN3 gene product (The International Batten Disease Consortium (1995) Cell 82, 949-957) and the site-specific mutations which give rise to the biological defect.
|
8980123 |
1996 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A yeast model for the study of Batten disease.
|
9618513 |
1998 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have analysed the intracellular processing and localization of two mutants, 461-677del, which is present in 85% of CLN3 alleles and causes the classical JNCL, and E295K [corrected], which is a rare missense mutation associated with an atypical form of JNCL.
|
10332042 |
1999 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.
|
9391897 |
1997 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The Batten disease gene, CLN3, was recently isolated, and four disease-causing mutations were identified, including a 1.02-kb deletion that is present in the majority of patients (The International Batten Disease Consortium 1995).
|
9311735 |
1997 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The juvenile neuronal ceroid lipofuscinosis (JNCL, Batten disease, MIM 204200), is an autosomal recessive lysosomal storage disease, which is characterized by ubiquitous accumulation of the lipopigment material ceroid-lipofuscin.
|
19489875 |
2009 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.
|
19132115 |
2009 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The results showed that ceroid-lipofuscinosis, neuronal 2, late infantile (CLN2; P = 0.044) and ceroid-lipofuscinosis, neuronal 3, juvenile (CLN3, which related to visual failure; P = 0.012) were significantly downregulated in the orbital fat of patients with TED.
|
18552385 |
2008 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells.
|
14699076 |
2004 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Severity of Batten disease due to mutations in CLN3 and the degree of ANP resistance in yeast are related when the equivalent amino acid replacements in Cln3p and Btn1p are compared.
|
10191120 |
1999 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Three unrelated patients were homozygous for the most common mutation in CLN(3), the 1.02 kb deletion; two patients (sisters) were heterozygous for the 1.02 kb deletion and an as yet unidentified mutation in the CLN(3) gene.
|
10916181 |
2000 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Batten disease: evaluation of CLN3 mutations on protein localization and function.
|
10749980 |
2000 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.
|
22261744 |
2012 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking.
|
22545070 |
2012 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To describe the pathophysiologic features of retinal degeneration in Batten disease (juvenile neuronal ceroid lipofuscinosis [JNCL]) caused by mutations in the CLN3 gene.
|
10964839 |
2000 |