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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
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Broader (1)

Neuronal Ceroid-Lipofuscinoses

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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… Expand
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… Expand
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… Expand
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Review
2004
Review
2004
The Genetic Spectrum of Human Neuronal Ceroid‐lipofuscinoses
  • S. Mole
  • Brain pathology
  • 2004
    • Corpus ID: 8638687
The neuronal ceroid lipofuscinoses (NCL), also known as Batten disease, are a group of inherited severe neurodegenerative… Expand
Highly Cited
2004
Highly Cited
2004
CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.
The neuronal ceroid lipofuscinoses (NCLs) are severe inherited neurodegenerative disorders affecting children. In this disease… Expand
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… Expand
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Review
2002
Review
2002
TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?
A family of membrane-associated proteins related to yeast Lag1p and mammalian TRAM has been identified. The family includes the… Expand
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… Expand
Highly Cited
2000
Highly Cited
2000
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.
Progressive epilepsy with mental retardation (EPMR) is a new member of the neuronal ceroid lipofuscinoses (NCLs). The CLN8 gene… Expand
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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… Expand
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