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Article

Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features.

Proceedings of the National Academy of Sciences of the United States of America - 14 Oct 2003

Gupta Praveena, Soyombo Abigail A, Shelton John M, Wilkofsky Ian G, Wisniewski Krystyna E, Richardson James A, Hofmann Sandra L

Abstract excerpt

The palmitoyl protein thioesterase-2 (PPT2) gene encodes a lysosomal thioesterase homologous to PPT1, which is the enzyme defective in the human disorder called infantile neuronal ceroid lipofuscinosis. In this article, we report that PPT2 deficiency in mice causes an unusual form of neuronal cer...

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Source

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Identifiers

PMID: 14528005
DOI: 10.1073/pnas.2033229100
PMCID: PMC218757

Genes

PPT2
PPT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14528005-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features.PMID 14528005Read ↗

Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice.Semantic proximity Read ↗

Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span.Semantic proximity Read ↗

The Batten disease Palmitoyl Protein Thioesterase 1 gene regulates neural specification and axon connectivity during Drosophila embryonic development.Semantic proximity Read ↗

Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons.Semantic proximity Read ↗

Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL).Semantic proximity Read ↗

Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease.Semantic proximity Read ↗

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Identifying cellular pathways modulated by Drosophila palmitoyl-protein thioesterase 1 function.Semantic proximity Read ↗

The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar 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 ↗

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