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Article

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.

Nature - 17 Aug 1995

Vesa J, Hellsten E, Verkruyse L A, Camp L A, Rapola J, Santavuori P, Hofmann S L, Peltonen L

Abstract excerpt

Neuronal ceroid lipofuscinoses (NCL) represent a group of common progressive encephalopathies of children which have a global incidence of 1 in 12,500. These severe brain diseases are divided into three autosomal recessive subtypes, assigned to different chromosomal loci. The infantile subtype of NCL (INCL), linked to chromosome 1p32, is characterized by early visual loss and rapidly progressing mental...

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Identifiers

PMID: 7637805
DOI: 10.1038/376584a0

Genes

NCL

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

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Related research

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Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.PMID 7637805Read ↗

Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).Semantic proximity Read ↗

Infantile neuronal ceroid lipofuscinosis: no longer just a 'Finnish' disease.Semantic proximity Read ↗

Adult neuronal ceroid lipofuscinosis with palmitoyl‐protein thioesterase deficiency: First adult‐onset patients of a childhood diseaseSemantic proximity Read ↗

Molecular genetics of the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2).Semantic proximity Read ↗

Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis.Semantic proximity Read ↗

A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency.Semantic proximity Read ↗

Neuronal ceroid lipofuscinoses: classification and diagnosis.Semantic proximity Read ↗

The neuronal ceroid-lipofuscinoses.Semantic proximity Read ↗

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