Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency.

Molecular genetics and metabolism - 1 Apr 1999

Hofmann S L, Das A K, Yi W, Lu J Y, Wisniewski K E

Abstract excerpt

The infantile form of neuronal ceroid lipofuscinosis (NCL) has been well studied in Finland, where there is a high carrier frequency (1:70) for a single mutation in the causative gene, CLN1, or PPT. We have recently studied a group of 29 NCL subjects in the United States with palmitoyl-protein thioesterase (PPT) deficiency and described 19 different CLN1/PPT mutations in our population. In this report, we present...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to COS Cells
Share to Immunoblotting

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microscopy, Electron

Share to Mutagenesis, Site-Directed

Share to Neuronal Ceroid-Lipofuscinoses

Share to Point Mutation

Share to Thiolester Hydrolases

Source

Identifiers

PMID: 10191107
DOI: 10.1006/mgme.1999.2803

Genes

NCL
CLN3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency.PMID 10191107Read ↗

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

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

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.Semantic proximity Read ↗

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

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.Semantic proximity Read ↗

Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.Semantic proximity Read ↗

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

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

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

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

Neuronal ceroid lipofuscinoses: classification and diagnosis.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 ↗

⌁Select a neighboring publication to make it the new centre.