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Article

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

Molecular genetics and metabolism - 1 Jan 2000

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

Abstract excerpt

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)...

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Source

Identifiers

PMID: 11001810
DOI: 10.1006/mgme.2000.3071

Genes

NCL
PPT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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