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Infantile neuronal ceroid lipofuscinosis

Known as: Santavuori Haltia Disease, Santavuori-Haltia Disease, INCL 
A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically… 
National Institutes of Health

Related topics

Related topics

3 relations
Adult Neuronal Ceroid LipofuscinosisCEROID LIPOFUSCINOSIS, NEURONAL, 1

Broader (1)

Neuronal Ceroid-Lipofuscinoses

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis.
The neuronal ceroid lipofuscinoses are fatal neurodegenerative disorders in which the visual system is affected early in disease… 
Highly Cited
2001
Highly Cited
2001
Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis.
The ability of aminoglycoside antibiotics to promote readthrough of eukaryotic stop codons has attracted interest in these drugs… 
Review
2000
Review
2000
Enzyme-based diagnosis of classical late infantile neuronal ceroid lipofuscinosis: comparison of tripeptidyl peptidase I and pepstatin-insensitive protease assays.
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative diseases that include infantile NCL (INCL… 
Review
2000
Review
2000
Towards unification of national vegetation classifications: A comparison of two methods for analysis of large data sets
In European phytosociology, national classifications of corresponding vegetation types show considerable differences even between… 
2000
2000
Prenatal testing for late infantile neuronal ceroid lipofuscinosis
Classic late infantile neuronal ceroid lipofuscinosis (LINCL) is a neurodegenerative disease in which autofluorescent… 
1996
1996
Didemnin binds to the protein palmitoyl thioesterase responsible for infantile neuronal ceroid lipofuscinosis.
The marine natural product didemnin B, currently in clinical trials as an antitumor agent, has several potent biological… 
Highly Cited
1995
Highly Cited
1995
Mutations in RAD27 define a potential link between G1 cyclins and DNA replication
The yeast Saccharomyces cerevisiae has three G1 cyclin (CLN) genes with overlapping functions. To analyze the functions of the… 
Highly Cited
1995
Highly Cited
1995
Specific Delay of Degradation of Mitochondrial ATP Synthase Subunit c in Late Infantile Neuronal Ceroid Lipofuscinosis (Batten Disease)
Abstract: Subunit c is normally present as an inner mitochondrial membrane component of the F0 section of the ATP synthase… 
Highly Cited
1995
Highly Cited
1995
Overexpression of SIS2, which contains an extremely acidic region, increases the expression of SWI4, CLN1 and CLN2 in sit4 mutants.
The Saccharomyces cerevisiae SIS2 gene was identified by its ability, when present on a high copy number plasmid, to increase… 
Highly Cited
1993
Highly Cited
1993
FAR1 is required for posttranscriptional regulation of CLN2 gene expression in response to mating pheromone
Yeast cells arrest during the G1 interval of the cell cycle in response to peptide mating pheromones. The FAR1 gene is required… 
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