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CEROID LIPOFUSCINOSIS, NEURONAL, 8

Known as: CLN8, Ceroid lipofuscinosis, neuronal 8 
National Institutes of Health

Related topics

Related topics

10 relations
AtaxiaAutosomal recessive inheritanceCLN8 geneCerebellar atrophy

Broader (1)

Neuronal Ceroid-Lipofuscinoses

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2012
Review
2012
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses
The neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous neurodegenerative disorders. Most are… 
Highly Cited
2009
Highly Cited
2009
A novel CLN8 mutation in late‐infantile‐onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function
The late‐infantile‐onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the… 
Highly Cited
2007
Highly Cited
2007
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
The late-infantile-onset forms are the most genetically heterogeneous group among the autosomal recessively inherited… 
Highly Cited
2006
Highly Cited
2006
The CLN9 Protein, a Regulator of Dihydroceramide Synthase*
A new variant of a group of pediatric neurodegenerative diseases known as neuronal ceroid lipofuscinosis (NCL) or Batten disease… 
Review
2005
Review
2005
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
The neuronal ceroid lipofuscinoses (NCLs) are a group of severe neurodegenerative diseases with onset usually in childhood and… 
Highly Cited
2004
Highly Cited
2004
CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.
Highly Cited
2003
Highly Cited
2003
Human Homologues of LAG1 Reconstitute Acyl-CoA-dependent Ceramide Synthesis in Yeast*
Lag1p and Lac1p are two highly homologous membrane proteins of the endoplasmic reticulum. lag1Δ lac1Δ double mutants in… 
Review
2002
Review
2002
TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?
Highly Cited
2001
Highly Cited
2001
Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs).
We report here the intracellular (pHi) and lysosomal pH in fibroblasts of six forms of neuronal ceroid lipofuscinoses (NCLs… 
Highly Cited
1999
Highly Cited
1999
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
The neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of progressive neurodegenerative disorders… 
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