ArticleProceedings of the National Academy of Sciences of the United States of America2003
Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 38 citations in OpenAlex.
- The Activation of ARF1 Is Dynamically Regulated by its Palmitoylation.Molecular & cellular proteomics : MCP · 2026Article
- Identification and validation of mitochondrial metabolism-ralated biomarkers in coronary heart disease.Medicine · 2026Article
- Elevated lysosomal mass and enzyme activity in fibroblasts of the Mediterranean mouse Mus spretus.Biology letters · 2026Article
- Palmitic acid and palmitoylation in cancer: Understanding, insights, and challenges.Innovation (Cambridge (Mass.)) · 2025Review
- Investigating PPT2's role in ovarian cancer prognosis and immunotherapy outcomes.Journal of ovarian research · 2024Article
- Protein lipidation in health and disease: molecular basis, physiological function and pathological implication.Signal transduction and targeted therapy · 2024Review
- Akap5 links synaptic dysfunction to neuroinflammatory signaling in a mouse model of infantile neuronal ceroid lipofuscinosis.Frontiers in synaptic neuroscience · 2024Article
- GFAP hyperpalmitoylation exacerbates astrogliosis and neurodegenerative pathology in PPT1-deficient mice.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- They Might Cut It-Lysosomes and Autophagy in Mitotic Progression.Frontiers in cell and developmental biology · 2021Review
- Preclinical pharmacological evaluation of the fatty acid amide hydrolase inhibitor BIA 10-2474.British journal of pharmacology · 2020Article
- Long noncoding RNABlood science (Baltimore, Md.) · 2019Article
- Article
- Palmitoylation and depalmitoylation defects.Journal of inherited metabolic disease · 2015Review
- Characterization of a serine hydrolase targeted by acyl-protein thioesterase inhibitors in Toxoplasma gondii.The Journal of biological chemistry · 2013Article
- Identification of differentially expressed genes by gabapentin in cultured dorsal root ganglion in a rat neuropathic pain model.Biomolecules & therapeutics · 2013Article
- The metabolic serine hydrolases and their functions in mammalian physiology and disease.Chemical reviews · 2011Review
- Dynamic palmitoylation and the role of DHHC proteins in T cell activation and anergy.Advances in immunology · 2011Review
- Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response.BMC neuroscience · 2007Article
- Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease.Molecular and cellular biology · 2006Article
- Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.Neurogenetics · 2005Review
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
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 ceroid lipofuscinosis with striking visceral manifestations. All PPT2-deficient mice displayed a neurodegenerative phenotype with spasticity and ataxia by 15 mo. The bone marrow was infiltrated by brightly autofluorescent macrophages and multinucleated giant cells, but interestingly, the macrophages did not have the typical appearance of foam cells commonly associated with other lysosomal storage diseases. Marked splenomegaly caused by extramedullary hematopoiesis was observed. The pancreas was grossly orange to brown as a result of massive storage of lipofuscin pigments in the exocrine (but not islet) cells. Electron microscopy showed that the storage material consisted of multilamellar membrane profiles ("zebra bodies"). In summary, PPT2 deficiency in mice manifests as a neurodegenerative disorder with visceral features. Although PPT2 deficiency has not been described in humans, manifestations would be predicted to include neurodegeneration with bone marrow histiocytosis, visceromegaly, brown pancreas, and linkage to chromosome 6p21.3 in affected families.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.