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CLN3 gene

Known as: JNCL, CLN3, juvenile neuronal ceroid lipofuscinosis 
National Institutes of Health

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Juvenile Neuronal Ceroid Lipofuscinosis

Papers overview

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2013
2013
Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis
We detected a novel CLN1 gene mutation (p.Arg151X, heterogenous) in a 12-year-old boy. Low level of palmitoyl protein… 
2007
2007
Increased expression of lysosomal acid phosphatase in CLN3‐defective cells and mouse brain tissue
Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a neurodegenerative disorder caused by defective function of the… 
2002
2002
Positron emission tomography shows reduced striatal dopamine D1 but not D2 receptors in juvenile neuronal ceroid lipofuscinosis.
We studied striatal dopamine D1 and D2 receptors in patients with juvenile neuronal ceroid lipofuscinosis (JNCL) with positron… 
1998
1998
Corrigendum: Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (Human Molecular Genetics (1998) 7…
1998
1998
First African-American child with juvenile neuronal ceroid lipofuscinosis.
The neuronal ceroid lipofuscinoses are among the most common forms of progressive neurodegenerative disease of childhood. They… 
1997
1997
Evaluation of the possible role of coenzyme Q10 and vitamin E in juvenile neuronal ceroid-lipofuscinosis (JNCL).
1995
1995
Mitochondrial damage results in a reversible increase in lysosomal storage material in lymphoblasts from patients with juvenile neuronal ceroid-lipofuscinosis (Batten Disease).
We have previously demonstrated reduced phospholipid fatty acid content in blood cells and cultured skin fibroblasts from… 
1995
1995
Isolation of genes from the Batten candidate region using exon amplification. Batten Disease Consortium.
In order to identify genes originating from the Batten disease candidate region, we have used the technique of exon amplification… 
1994
1994
Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p12.1
The neuronal ceroid lipofuscinoses (NCL; Batten disease) are a collection of autosomal recessive disorders characterized by the… 
1989
1989
Probable exclusion of juvenile neuronal ceroid lipofuscinosis in a fetus at risk: An interim report
In a family with two children affected by juvenile neuronal ceroid lipofuscinosis (JNCL) an attempt was made at the prenatal… 
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