Recombinant Mouse Palmitoyl-protein thioesterase 1 (Ppt1)

1. Our results indicate that PPT1 deficiency causes alterations in the mitochondrial respiratory chain. PMID:27722792
2. Proteomics analysis on isolated cilia revealed 660 proteins, which differed in their abundance levels between wild type and Ppt1 knock out. PMID:28334871
3. In the novel Cln1(R151X) mouse model of INCL. PMID:26648046
4. Parkinson-like motor/sensorimotor deficits in Cln1-/- mice are not mediated by dopamine deficiency. PMID:26238334
5. Data show that Cln1 mutations disrupt the maturation of cathepsin D in lysosome contributing to neuropathology of infantile neuronal ceroid lipofuscinoses and suggest cathepsin D deficiency to be common link between infantile and congenital form. PMID:26160911
6. The authors have generated a Cln1 R151X point mutation mouse model that recapitulates the molecular, neuropathological and behavioral phenotypes of neuronal ceroid lipofuscinoses. PMID:25205113
7. Data (including data from knockout mice) suggest that deficiency of Ppt1 leads to accumulation of granular osmiophilic deposits in many cell types, especially in astrocytes. [review-like article] PMID:25233404
8. Data suggest that mouse macrophages express PPT1; PPT1 appears to contribute to 2-arachidonylglycerol hydrolysis activity in peritoneal macrophages in culture. PMID:24083319
9. The simultaneous loss of both Cln1 and Cln5 genes might enhance the typical pathological phenotypes of these mice by disrupting or downregulating shared or convergent pathogenic pathways. PMID:23065637
10. These results uncover a previously unknown phenotype associated with PPT1 deficiency, that of altered thermoregulation, which is associated with impaired lipolysis and neurotransmitter release to brown adipose tissue during cold exposure. PMID:23139814
11. The addition of the small molecule PPT1 mimetic can further increase that response. PMID:22310926
12. Glutamate receptor 4 (GluR4) AMPA receptor hypofunction and NMDA receptor hyperfunction phenotype show increased sensitivity in Ppt1-deficient neurons. PMID:21971706
13. Data show a progressive breakdown of axons and synapses in the brains of two different models of NCL: Ppt1(-/-) model of infantile NCL and Cln6(nclf) model of variant late-infantile NCL. PMID:19640925
14. The polarized axonal targeting of PPT1 may well indicate a role for PPT1 in the exocytotic pathway of neurons. PMID:12483688
15. was only detected in developing testis not ovary PMID:15128596
16. The severely affected PPT1-/- mouse CNS exhibited reduced volume of both cortical and subcortical regions, but with sparing of the cerebellum PMID:15193291
17. Autopsy of PPT1 mutant mice revealed a severe loss of brain mass and accumulation of autofluorescent granular osmiophilic deposits, both characteristic of Neuronal Ceroid Lipofuscinosis. PMID:15649713
18. We conclude that from an early age, neurons deficient in PPT1 enzyme activity display intrinsically abnormal properties that could potentially explain key features of the clinical disease, such as myoclonus and seizures. PMID:16242638
19. Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in infantile neuronal ceroid lipofuscinosis. PMID:16368712
20. Age-dependent increase in LPC levels in the PPT1-KO mouse brain positively correlates with elevated expression of the genes characteristically associated with phagocytes. PMID:17341491
21. Neuron-specific changes for F(1)-complex in the Ppt1-deficient cells and give clues for a possible link between lipid metabolism and neurodegeneration in Infantile neuronal ceroid lipofuscinosis. PMID:18245779
22. We analyzed locus specific gene expression and showed regional clustering of Cln1 and three major genes of this pathway, further supporting a close functional relationship between the corresponding gene products PMID:18371231
23. Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals in humans and mice PMID:18704195
24. This study suggests that neuronal-glial interactions are the core pathology in the palmitoyl protein thioesterase 1 deficient cerebellum. PMID:19416667

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UNIGENE: Mm.277719

KEGG: mmu:19063

STRING: 10090.ENSMUSP00000030412