Developmental changes in the expression of neuronal ceroid lipofuscinoses-linked proteins.

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.

journal_name

Mol Genet Metab

authors

Suopanki J,Partanen S,Ezaki J,Baumann M,Kominami E,Tyynelä J

doi

10.1006/mgme.2000.3071

subject

Has Abstract

pub_date

2000-09-01 00:00:00

pages

190-4

issue

1-2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(00)93071-3

journal_volume

71

pub_type

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