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166 results

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Page 1
PACS2/CPT1A/DHODH signaling promotes cardiomyocyte ferroptosis in diabetic cardiomyopathy.
Xiang H, Lyu Q, Chen S, Ouyang J, Xiao D, Liu Q, Long H, Zheng X, Yang X, Lu H. Xiang H, et al. Cardiovasc Diabetol. 2024 Dec 4;23(1):432. doi: 10.1186/s12933-024-02514-6. Cardiovasc Diabetol. 2024. PMID: 39633391 Free PMC article.
Silencing PACS2 downregulated CPT1A expression and upregulated DHODH expression significantly, reversing HGPA-induced ferroptosis. Further silencing of PACS2 with a CPT1A agonist exacerbated cardiomyocyte ferroptosis while promoting mitochondrial damage in cardiomyo …
Silencing PACS2 downregulated CPT1A expression and upregulated DHODH expression significantly, reversing HGPA-induced ferroptosis. Fu …
Expanding the clinical spectrum associated with PACS2 mutations.
Dentici ML, Barresi S, Niceta M, Ciolfi A, Trivisano M, Bartuli A, Digilio MC, Specchio N, Dallapiccola B, Tartaglia M. Dentici ML, et al. Clin Genet. 2019 Apr;95(4):525-531. doi: 10.1111/cge.13516. Epub 2019 Feb 28. Clin Genet. 2019. PMID: 30684285 Review.
We provide a detailed clinical characterization of this patient, and analyse the available clinical data of individuals with PACS2 mutations to delineate more accurately the clinical spectrum associated with this recently described syndrome. Our study expands the clinical …
We provide a detailed clinical characterization of this patient, and analyse the available clinical data of individuals with PACS2 mu …
Understanding PACS2 syndrome's pathomechanism by studying E209K and E211K mutations.
Zbikowski A, Kowalczyk T, Kasparek P, Prohazka J, Sedlacek R, Ciborowski M, Cysewski D, Łukasiewicz K. Zbikowski A, et al. Mamm Genome. 2025 Jun;36(2):363-371. doi: 10.1007/s00335-024-10098-5. Epub 2024 Dec 30. Mamm Genome. 2025. PMID: 39738582 Review.
Phosphofurin acidic cluster sorting protein 2 (PACS2) plays a vital role in maintaining cellular homeostasis by regulating protein trafficking between cellular membranes. ...Unfortunately, to date, only a limited number of research groups have investigated the effects of m …
Phosphofurin acidic cluster sorting protein 2 (PACS2) plays a vital role in maintaining cellular homeostasis by regulating protein tr …
PACS2 initiates foam cell formation in macrophages through the ROS-PPARgamma-CD36 positive feedback loop.
Ouyang J, Chen S, Xiang H, Tang B, Long H, Liu Q, Qin S, Zheng X, Chen AF, Lu H. Ouyang J, et al. Biochem Pharmacol. 2025 Nov;241:117164. doi: 10.1016/j.bcp.2025.117164. Epub 2025 Jul 11. Biochem Pharmacol. 2025. PMID: 40653022
PACS2 activated the ROS-PPARgamma-CD36 signaling pathway, which drove lipid uptake in macrophages. Notably, the activation of this signaling pathway also increased PACS2 production. PACS2 knockout or silencing disrupted the positive feedback loop between P …
PACS2 activated the ROS-PPARgamma-CD36 signaling pathway, which drove lipid uptake in macrophages. Notably, the activation of this si …
Mitochondria-associated membrane protein PACS2 maintains right cardiac function in hypobaric hypoxia.
Yang J, Sun M, Chen R, Ye X, Wu B, Liu Z, Zhang J, Gao X, Cheng R, He C, He J, Wang X, Huang L. Yang J, et al. iScience. 2023 Mar 5;26(4):106328. doi: 10.1016/j.isci.2023.106328. eCollection 2023 Apr 21. iScience. 2023. PMID: 36968068 Free PMC article.
Pacs2 overexpression reversed these effects. Cardiac-specific knockout of Pacs2 exacerbated mitophagy inhibition, cardiomyocyte injury, and right cardiac dysfunction induced by HH. Conditional knock-in of Pacs2 recovered HH-induced right cardiac impairment. T …
Pacs2 overexpression reversed these effects. Cardiac-specific knockout of Pacs2 exacerbated mitophagy inhibition, cardiomyocyt …
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Sakaguchi Y, Yoshihashi H, Uehara T, Miyama S, Kosaki K, Takenouchi T. Sakaguchi Y, et al. Am J Med Genet A. 2021 Mar;185(3):884-888. doi: 10.1002/ajmg.a.62020. Epub 2020 Dec 27. Am J Med Genet A. 2021. PMID: 33369122 Review.
We report a male adult with early infantile-onset epilepsy, facial dysmorphism, and iridal and choroidal coloboma who had a de novo heterozygous mutation in PACS2, that is, c.625G > A p.(Glu209Lys). This specific mutation was previously reported in a patient with PAC …
We report a male adult with early infantile-onset epilepsy, facial dysmorphism, and iridal and choroidal coloboma who had a de novo heterozy …
PACS2, PACS1, and VACTERL: A Clinical Overlap.
Massey H, Tennant S, Dean J; DDD study. Massey H, et al. Mol Syndromol. 2025 Feb;16(1):29-32. doi: 10.1159/000539473. Epub 2024 Aug 7. Mol Syndromol. 2025. PMID: 39911171 Free PMC article.
Two of these are the evolutionary linked proteins phosphofurin acidic cluster sorting protein 1 (PACS1) and phosphofurin acidic cluster sorting protein 2 (PACS2), which function as metabolic switches. We present a case of a patient with the previously described PACS2 …
Two of these are the evolutionary linked proteins phosphofurin acidic cluster sorting protein 1 (PACS1) and phosphofurin acidic cluster sort …
PACS2/PKCalpha/NOX4 pathway damaged the renal vascular endothelial barrier by promoting ROS production in diabetic nephropathy mice.
Zheng X, Zhu Q, Ouyang J, Zhang J, Liu Q, Fan J, Gao P, Long H, Xiang H, Lu H. Zheng X, et al. Mol Cell Biochem. 2025 Dec;480(12):6145-6156. doi: 10.1007/s11010-025-05363-3. Epub 2025 Aug 7. Mol Cell Biochem. 2025. PMID: 40775117
In this study, we explored the mechanistic function of PACS2 and its downstream PKCalpha/NOX4 signaling pathway in endothelial barrier damage in DN. ...SiRNA-mediated silencing or knockdown of PACS2 reversed the impaired vascular barrier function in vivo and in vitr …
In this study, we explored the mechanistic function of PACS2 and its downstream PKCalpha/NOX4 signaling pathway in endothelial barrie …
PACS2 is required for ox-LDL-induced endothelial cell apoptosis by regulating mitochondria-associated ER membrane formation and mitochondrial Ca(2+) elevation.
Yu S, Zhang L, Liu C, Yang J, Zhang J, Huang L. Yu S, et al. Exp Cell Res. 2019 Jun 15;379(2):191-202. doi: 10.1016/j.yexcr.2019.04.002. Epub 2019 Apr 7. Exp Cell Res. 2019. PMID: 30970236
Besides, ox-LDL promoted PACS2 localization at mitochondria as well as ER-mitochondria contacts at 2 h. Not only that, ox-LDL upregulated PACS2 expression at 24 h. Furthermore, silencing PACS2 inhibited ox-LDL-induced mitochondrial localization of PACS2 …
Besides, ox-LDL promoted PACS2 localization at mitochondria as well as ER-mitochondria contacts at 2 h. Not only that, ox-LDL upregul …
166 results