×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
GeneticVariation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
CausalMutation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
CausalMutation
CLINVAR
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
23539563 2013
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
CausalMutation
CLINVAR
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
23374165 2013
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
GeneticVariation
CLINVAR
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
23539563 2013
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
GeneticVariation
CLINVAR
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111 2012
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
GeneticVariation
CLINVAR
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking.
22545070 2012
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
CausalMutation
CLINVAR
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111 2012
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
GeneticVariation
CLINVAR
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
21499717 2011
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
CausalMutation
CLINVAR
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).
22013180 2011
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
GeneticVariation
CLINVAR
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).
20187884 2010
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
GeneticVariation
CLINVAR
The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.
19132115 2009
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
GeneticVariation
CLINVAR
Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
19489875 2009
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
CausalMutation
CLINVAR
The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.
19132115 2009
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
CausalMutation
CLINVAR
A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.
17947292 2008
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
GeneticVariation
CLINVAR
Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells.
14699076 2004
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
GeneticVariation
CLINVAR
Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis.
12189165 2002
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
GeneticVariation
CLINVAR
Batten disease: evaluation of CLN3 mutations on protein localization and function.
10749980 2000
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
CausalMutation
CLINVAR
Batten disease: evaluation of CLN3 mutations on protein localization and function.
10749980 2000
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
GeneticVariation
CLINVAR
CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells.
10924275 2000
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
GeneticVariation
CLINVAR
Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis.
9932957 1999
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
CausalMutation
CLINVAR
Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)
10332042 1999
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
GeneticVariation
CLINVAR
A yeast model for the study of Batten disease.
9618513 1998
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
GeneticVariation
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
×
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Juvenile Neuronal Ceroid Lipofuscinosis
1.000
CausalMutation
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