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Page 1
Neonatal diabetes mellitus around the world: Update 2024.
Barbetti F, Deeb A, Suzuki S. Barbetti F, et al. J Diabetes Investig. 2024 Dec;15(12):1711-1724. doi: 10.1111/jdi.14312. Epub 2024 Sep 30. J Diabetes Investig. 2024. PMID: 39344692 Free PMC article. Review.
In addition, NDM cases carrying mutations in three other genes known to give rise to diabetes during childhood have been also identified (AGPAT2, BSCL2, PIK3R1). As a consequence, the list of NDM genes now exceeds 40. This genetic heterogeneity translates into many differe …
In addition, NDM cases carrying mutations in three other genes known to give rise to diabetes during childhood have been also identified ( …
AGPAT2 interaction with CDP-diacylglycerol synthases promotes the flux of fatty acids through the CDP-diacylglycerol pathway.
Mak HY, Ouyang Q, Tumanov S, Xu J, Rong P, Dong F, Lam SM, Wang X, Lukmantara I, Du X, Gao M, Brown AJ, Gong X, Shui G, Stocker R, Huang X, Chen S, Yang H. Mak HY, et al. Nat Commun. 2021 Nov 25;12(1):6877. doi: 10.1038/s41467-021-27279-4. Nat Commun. 2021. PMID: 34824276 Free PMC article.
Paradoxically, AGPAT2 deficiency is known to dramatically increase the level of its product, PA. Here, we find that AGPAT2 deficiency impairs the biogenesis and growth of lipid droplets. We show that AGPAT2 deficiency compromises the stability of CDP-diacylgl …
Paradoxically, AGPAT2 deficiency is known to dramatically increase the level of its product, PA. Here, we find that AGPAT2 def …
The Role of the AGPAT2 Gene in Adipose Tissue Biology and Congenital Generalized Lipodystrophy Pathophysiology.
de Melo MEC, da Silva LMG, Cavalcante ACC, Lima JG, Campos JTAM. de Melo MEC, et al. Int J Mol Sci. 2025 Jun 5;26(11):5416. doi: 10.3390/ijms26115416. Int J Mol Sci. 2025. PMID: 40508223 Free PMC article. Review.
Defects in AGPAT2 are responsible for significant pathophysiological alterations related to adipose tissue (AT). ...Here, we used bioinformatics tools to verify the effect of the main pathogenic variants reported in the AGPAT2 gene: c.366-588del, c.589-2A>G, c.64 …
Defects in AGPAT2 are responsible for significant pathophysiological alterations related to adipose tissue (AT). ...Here, we used bio …
Identification of prognostic lipid droplet-associated genes in pancreatic cancer patients via bioinformatics analysis.
Bai R, Rebelo A, Kleeff J, Sunami Y. Bai R, et al. Lipids Health Dis. 2021 Jun 2;20(1):58. doi: 10.1186/s12944-021-01476-y. Lipids Health Dis. 2021. PMID: 34078402 Free PMC article.
Bioinformatics analysis of 179 pancreatic cancer samples and 171 normal pancreatic tissue samples on the GEPIA platform identified 39 deferentially expressed genes in pancreatic cancer with 36 up-regulated genes (ACSL3, ACSL4, AGPAT2, BSCL2, CAV1, CAV2, CAVIN1, CES1, CIDEC …
Bioinformatics analysis of 179 pancreatic cancer samples and 171 normal pancreatic tissue samples on the GEPIA platform identified 39 defere …
The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.
Craveiro Sarmento AS, Ferreira LC, Lima JG, de Azevedo Medeiros LB, Barbosa Cunha PT, Agnez-Lima LF, Galvão Ururahy MA, de Melo Campos JTA. Craveiro Sarmento AS, et al. Mutat Res Rev Mutat Res. 2019 Jul-Sep;781:30-52. doi: 10.1016/j.mrrev.2019.03.005. Epub 2019 Mar 23. Mutat Res Rev Mutat Res. 2019. PMID: 31416577 Review.
BSCL etiology involves genetic variations in four different genes: AGPAT2, BSCL2, CAV1, and CAVIN1. The four different biochemical subtypes of the disease are distinguished depending on which gene is mutated. ...The c.517dupA in the BSCL2 gene was the most frequent (13.3%) …
BSCL etiology involves genetic variations in four different genes: AGPAT2, BSCL2, CAV1, and CAVIN1. The four different biochemical su …
A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.
Rajan R, Chapla A, Johnson J, Varghese D, Asha HS, Jebasingh F, Kapoor N, Paul TV, Thomas N. Rajan R, et al. Sci Rep. 2024 Nov 16;14(1):28277. doi: 10.1038/s41598-024-79516-7. Sci Rep. 2024. PMID: 39550450 Free PMC article.
Subjects with suspected lipodystrophy were for screened six genes (AGPAT2, BSCL2, LMNA, PPARG, ZMPSTE24, INSR) and the variants identified were confirmed through Sanger sequencing. ...We identified eight individuals with pathogenic or likely pathogenic mutations, including …
Subjects with suspected lipodystrophy were for screened six genes (AGPAT2, BSCL2, LMNA, PPARG, ZMPSTE24, INSR) and the variants ident …
Lipodystrophic gene Agpat2 deficiency aggravates hyperlipidemia and atherosclerosis in Ldlr(-/-) mice.
Peng K, Chen X, Pei K, Wang X, Ma X, Liang C, Dong Q, Liu Z, Han M, Liu G, Yang H, Zheng M, Liu G, Gao M. Peng K, et al. Biochim Biophys Acta Mol Basis Dis. 2024 Jan;1870(1):166850. doi: 10.1016/j.bbadis.2023.166850. Epub 2023 Aug 15. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 37591406 Free article.
This study will investigate the effect of Agpat2 on hyperlipidemia and atherosclerosis. METHODS AND RESULTS: In this study, Agpat2 knockout (Agpat2(-/-)) mice were generated using CRISPR/Cas system, which showed severe loss of adipose tissue and fatty liver, …
This study will investigate the effect of Agpat2 on hyperlipidemia and atherosclerosis. METHODS AND RESULTS: In this study, Agpat2 …
Human placental lipid content and lipid metabolic enzyme abundance in obesity and across gestation.
Bidne KL, Uhlson C, Palmer C, Zemski-Berry K, Powell TL. Bidne KL, et al. Clin Sci (Lond). 2022 Oct 14;136(19):1389-1404. doi: 10.1042/CS20220479. Clin Sci (Lond). 2022. PMID: 36103262 Free PMC article.
Placental protein abundance of glycerol-2-phosphate (GPAT3) and 1-acyl-sn-glycerol-3-phosphate acyltransferase 2 (AGPAT2), involved in de novo synthesis of PC and TAG, were higher (P<0.05) in the first trimester (66 and 74%, respectively). ...
Placental protein abundance of glycerol-2-phosphate (GPAT3) and 1-acyl-sn-glycerol-3-phosphate acyltransferase 2 (AGPAT2), involved i …
Involvement of a battery of investigated genes in lipid droplet pathophysiology and associated comorbidities.
Al Harake SN, Abedin Y, Hatoum F, Nassar NZ, Ali A, Nassar A, Kanaan A, Bazzi S, Azar S, Harb F, Ghadieh HE. Al Harake SN, et al. Adipocyte. 2024 Dec;13(1):2403380. doi: 10.1080/21623945.2024.2403380. Epub 2024 Sep 27. Adipocyte. 2024. PMID: 39329369 Free PMC article. Review.
In this review, we delineate the effects of mutations and deficiencies in genes - CIDEC, PPARG, BSCL2, AGPAT2, PLIN1, LIPE, LMNA, CAV1, CEACAM1, and INSR - involved in lipid droplet metabolism and their associated pathophysiological impairments, highlighting their roles in …
In this review, we delineate the effects of mutations and deficiencies in genes - CIDEC, PPARG, BSCL2, AGPAT2, PLIN1, LIPE, LMNA, CAV …
53 results