Abstract
In the past decade there have been significant advances in our understanding of the molecular genetic basis of the neuronal ceroid lipofuscinoses, a clinically and genetically heterogeneous group of childhood neurodegenerative storage disorders. Recent research progress is reviewed here, to summarize new disease gene identification, diagnostics, treatment, protein functional studies and investigations into the underlying molecular pathogenesis of these devastating disorders.
MeSH terms
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Animals
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Child
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Chromosome Mapping
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Genotype
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Humans
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Infant
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Membrane Glycoproteins*
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Membrane Proteins / genetics
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Models, Genetic
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Molecular Chaperones*
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Neuronal Ceroid-Lipofuscinoses / diagnosis
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Neuronal Ceroid-Lipofuscinoses / genetics*
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Neuronal Ceroid-Lipofuscinoses / therapy
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Phenotype
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Phosphoprotein Phosphatases / genetics
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Proteins / genetics
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Thiolester Hydrolases
Substances
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CLN3 protein, human
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Membrane Glycoproteins
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Membrane Proteins
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Molecular Chaperones
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Proteins
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Thiolester Hydrolases
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PPT1 protein, human
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Phosphoprotein Phosphatases