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CLN3 gene

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

Papers overview

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Highly Cited
2011
Highly Cited
2011
Objective: To explore the onset and progression of cardiac involvement in juvenile neuronal ceroid lipofuscinosis (JNCL). Methods… Expand
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Highly Cited
2006
Highly Cited
2006
Juvenile neuronal ceroid lipofuscinosis is caused by mutation of a novel, endosomal/lysosomal membrane protein encoded by CLN3… Expand
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2005
2005
Apoptosis, Golgi fragmentation and elevated ceramide levels occur in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) neurons… Expand
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Highly Cited
2004
Highly Cited
2004
BackgroundJNCL is a recessively inherited, childhood-onset neurodegenerative disease most-commonly caused by a ~1 kb CLN3… Expand
Highly Cited
2002
Highly Cited
2002
Juvenile-onset neuronal ceroid lipofuscinosis (JNCL; Batten disease) features hallmark membrane deposits and loss of central… Expand
Highly Cited
2000
Highly Cited
2000
Maintenance of the appropriate pH in the intracellular vacuolar compartments is essential for normal cell function. Here, we… Expand
Highly Cited
1998
Highly Cited
1998
Mannose 6-phosphate (Man-6-P) is a carbohydrate modification that is generated on newly synthesized lysosomal proteins. This… Expand
Highly Cited
1997
Highly Cited
1997
Batten disease (juvenile-onset neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive condition characterized by… Expand
1997
1997
We recently cloned a cDNA for CLN3, the gene for juvenile-onset neuronal ceroid lipofuscinosis or Batten disease. To resolve the… Expand
Review
1993
Review
1993
The progressive myoclonus epilepsies (PMEs) are a group of rare genetic disorders previously shrouded in nosological confusion… Expand