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

[Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jul 2006

Bi Hong-yan, Yao Sheng, Bu Ding-fang, Wang Zhao-xia, Zhang Ying, Qin Jiong, Yang Yan-ling, Yuan Yun

Abstract excerpt

OBJECTIVE: To search for possible novel mutations in palmitoyl-protein thioesterase 1 (PPT1) gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis (INCL). METHODS: Two probands with INCL, confirmed clinically and pathologically, were used for mutation search in PPT1 gene. Onset...

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 Codon
Share to Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Introns

Share to Mutation, Missense

Share to Neuronal Ceroid-Lipofuscinoses

Share to RNA Splice Sites

Share to Thiolester Hydrolases

Source

Identifiers

PMID: 17044973

Genes

PPT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17044973-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis].PMID 17044973Read ↗

A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1.Semantic proximity Read ↗

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

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 ↗

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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

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

cDNA and Genomic Cloning of Human Palmitoyl-Protein Thioesterase (PPT), the Enzyme Defective in Infantile Neuronal Ceroid LipofuscinosisSemantic proximity Read ↗

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

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

Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).Semantic proximity Read ↗

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