Abstract
Neuronal ceroid lipofuscinoses (NCL) form a distinct group of storage diseases where the normal development of the central nervous system is interrupted and neurons of the neocortex begin to degenerate. Mutations in genes encoding three lysosomal enzymes are the causes for three early-onset forms of NCLs: palmitoyl-protein thioesterase 1 (PPT1) is deficient in human infantile NCL, tripeptidyl peptidase 1 (TTP1) in late-infantile NCL, and cathepsin D in congenital ovine NCL. We wanted to compare the developmental expression profiles of these enzymes in rat brain. In conclusion, the PPT1 expression pattern differed from the two other lysosomal enzymes implicated in NCL diseases, thus suggesting a distinctive role for PPT1 in brain development.
Copyright 2000 Academic Press.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Aminopeptidases
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Animals
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Base Sequence
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Cathepsin D / genetics
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Cathepsin D / metabolism
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Central Nervous System / enzymology
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Central Nervous System / growth & development
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Central Nervous System / pathology
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DNA Primers / genetics
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Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
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Endopeptidases / genetics
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Endopeptidases / metabolism
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Gene Expression Regulation, Developmental
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Humans
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Lysosomes / enzymology
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Mutation
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Nerve Degeneration
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Neuronal Ceroid-Lipofuscinoses / enzymology*
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Neuronal Ceroid-Lipofuscinoses / genetics
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Neuronal Ceroid-Lipofuscinoses / pathology
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RNA, Messenger / genetics
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RNA, Messenger / metabolism
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Rats
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Serine Proteases
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Thiolester Hydrolases / genetics
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Thiolester Hydrolases / metabolism
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Tripeptidyl-Peptidase 1
Substances
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DNA Primers
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RNA, Messenger
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Tripeptidyl-Peptidase 1
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Thiolester Hydrolases
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palmitoyl-protein thioesterase
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Endopeptidases
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Serine Proteases
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Aminopeptidases
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Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
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Cathepsin D