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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

Semantic Scholar uses AI to extract papers important to this topic.
Review
2012
Review
2012
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking
Abstract Loss-of-function mutations in CLN3 are responsible for juvenile-onset neuronal ceroid lipofuscinosis (JNCL), or Batten… 
Highly Cited
2011
Highly Cited
2011
Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease)
Objective: To explore the onset and progression of cardiac involvement in juvenile neuronal ceroid lipofuscinosis (JNCL). Methods… 
Highly Cited
2008
Highly Cited
2008
Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways
Mutations in the gene CLN3 are responsible for the neurodegenerative disorder juvenile neuronal ceroid lipofuscinosis or Batten… 
Highly Cited
2004
Highly Cited
2004
Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis
BackgroundJNCL is a recessively inherited, childhood-onset neurodegenerative disease most-commonly caused by a ~1 kb CLN3… 
Highly Cited
2000
Highly Cited
2000
CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells.
Maintenance of the appropriate pH in the intracellular vacuolar compartments is essential for normal cell function. Here, we… 
Highly Cited
2000
Highly Cited
2000
Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease.
Highly Cited
1997
Highly Cited
1997
Spectrum of mutations in the Batten disease gene, CLN3.
Batten disease (juvenile-onset neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive condition characterized by… 
1997
1997
Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3.
We recently cloned a cDNA for CLN3, the gene for juvenile-onset neuronal ceroid lipofuscinosis or Batten disease. To resolve the… 
Review
1993
Review
1993
Progressive Myoclonus Epilepsies: Clinical and Genetic Aspects
The progressive myoclonus epilepsies (PMEs) are a group of rare genetic disorders previously shrouded in nosological confusion… 
1989
1989
First‐trimester diagnosis of juvenile neuronal ceroid lipofuscinosis by demonstration of fingerprint inclusions in chorionic villi
One of the most common hereditary, progressive encephalopathies in children—juvenile neuronal ceroid lipofuscinosis (NCL)—lacks… 
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