Ask about this productRelated genes to: LPIN2 Blocking Peptide
- Gene:
- LPIN2 NIH gene
- Name:
- lipin 2
- Previous symbol:
- -
- Synonyms:
- KIAA0249
- Chromosome:
- 18p11.31
- Locus Type:
- gene with protein product
- Date approved:
- 2001-01-24
- Date modifiied:
- 2019-04-23
Related products to: LPIN2 Blocking Peptide
Related articles to: LPIN2 Blocking Peptide
- Niemann-Pick type C (NP-C) disease is a fatal, neurodegenerative disorder caused by lysosomal lipid accumulation with variable symptomatic penetrance at the primary disease locus encoded by the NPC1 gene. We identified genetic modifiers of disease progression by integrating genetic, genomic, and lipidomic analyses across yeast, mice, and human patients. A yeast screen identified 45 candidate modifiers of disease severity, including phosphatidic acid hydrolase (), a key enzyme in triacylglycerol (TAG) synthesis. Lipidomic profiling of liver, cerebral cortex, and cerebellum from mice at multiple ages demonstrated that dysregulation of TAG metabolism strongly correlates with disease progression. Deletion of the murine orthologues or in mice reduced lifespan, accelerated Purkinje cell loss, and increased hepatic lipid accumulation. In NP-C patients, two variants were associated with early childhood onset. These findings identify lipins as modifiers of NP-C disease and expand our understanding of lipid metabolism in neurodegeneration. - Source: PubMed
Publication date: 2026/05/28
Munkacsi Andrew BConway Gabriella EMulterer KeriJackson Michael DCsaki LaurenRajakumar TamayanthiSheridan Jeffrey PNiktab EliatanHwu Wuh-LiangChien Yin-HsiuWalterfang MarkDel Rio Hernandez CintyaChan Robin BZhou BowenNandakumar RenuZhang PeixangDi Paolo GilbertMaue Robert AReue KarenSturley Stephen L - Osteomyelitis is a complex inflammatory bone disease characterised by infection, immune dysregulation, and progressive bone destruction, for which effective targeted therapeutic options remain limited. This study aimed to identify potential therapeutic phytochemicals and candidate biomarkers associated with osteomyelitis using in-silico approaches. Ten medicinal plants were selected, yielding 1038 phytochemicals, refined to 782 unique compounds; 300 bioactive phytochemicals (30 per plant) were chosen for further analysis. SwissADME screening showed that ferulic acid, quercetin, kaempferol, caffeic acid, gallic acid, and vanillic acid have good pharmacokinetics and high GI absorption, while rutin showed poor oral suitability (3 Lipinski violations; bioavailability 0.17). Osteomyelitis-associated genes were retrieved from GeneCards, DisGeNET, OMIM, and CTD, yielding 1074 unique disease-related genes. Among these, IL1R1 and IL1RN were present in all four databases, while LPIN2 and PSTPIP2 were present in three databases. Protein-protein interaction analysis of 19 overlapping genes generated a network comprising 19 nodes and 35 edges, with an average node degree of 3.68, an average local clustering coefficient of 0.608, and a significant enrichment p-value of 1.97 × 10⁻⁶. Hub gene analysis highlighted IL1B, IL1R1, RELA, SRC, and PIK3R1 as major regulatory genes. Molecular docking against IL1B, IL1R1, RELA, SRC, and PIK3R1 demonstrated strong binding affinities for several phytochemicals, with ursolic acid showing the strongest overall interaction, particularly against SRC (-10.1 kcal/mol), followed by rutin (-9.9 kcal/mol) and oleanolic acid (-9.8 kcal/mol). These findings suggest that selected phytochemicals, particularly ursolic acid and oleanolic acid, may be promising multi-target therapeutic candidates, while IL1R1, IL1RN, LPIN2, and PSTPIP2 may serve as candidate biomarkers and therapeutic targets for osteomyelitis. - Source: PubMed
Publication date: 2026/05/28
Liu ChuanwenWang DeningZhong Jipeng - Aberrant lipid metabolism is closely associated with tumorigenesis and progression; however, its specific roles and molecular mechanisms in lung adenocarcinoma (LUAD) remain to be fully elucidated. This study aims to develop a prognostic signature based on lipid metabolism-related genes and to investigate the functional role of the key gene in LUAD. - Source: PubMed
Publication date: 2026/04/28
Li XianyongTang QianqianWang XuankaiLiu NaXu Jianjun - Chronic nonbacterial osteomyelitis (CNO) and SAPHO (syndrome of synovitis, acne, pustulosis, hyperostosis, osteitis) syndrome are rare autoinflammatory diseases characterized by inflammatory manifestations of the skeletal system often accompanied by skin and less frequently intestinal and pulmonary involvement. Despite familial clustering being observed, the prevailing genetic causes are yet to be fully understood. This review article summarizes the current evidence on the genetic background of CNO. Rare functional variants in LPIN2, IL1RN, and FBLIM1 have been described in isolated individuals, suggesting monogenic inheritance, while more common susceptibility factors such as the HLA-B*27 allele and P2RX7 variants indicate a more complex mode of inheritance. Genetic overlaps with familial Mediterranean fever in the Turkish population and partial response of these CNO patients to colchicine could indicate a shared pathogenetic spectrum. In conclusion, the genetic architecture of CNO appears heterogeneous, encompassing susceptibility factors and, pathogenic variants with potential therapeutic implications. Lack of many solved cases underlines the necessity to perform further genetic research. - Source: PubMed
Publication date: 2026/01/21
Deen Hayatu MohammadHüffmeier Ulrike - Cancer stem cells (CSCs) exhibit reduced levels of reactive oxygen species (ROS) despite increased oxidative phosphorylation, through mechanisms that remain poorly understood. Understanding these mechanisms could lead to new strategies for identifying and eradicating CSCs. - Source: PubMed
Publication date: 2025/12/08
Lin Jiun-HanHsu Tien-WeiCheng Wei-ChungLiu Chen-ChiLi Anna Fen-YauHung Mien-ChieHsu Han-ShuiHung Shih-Chieh