2024年12月25日 · LPIN1 (Lipin 1) is a Protein Coding gene. Diseases associated with LPIN1 include Myoglobinuria, Acute Recurrent, Autosomal Recessive and Genetic Recurrent Myoglobinuria. Among its related pathways are Epigenetic regulation by WDR5-containing histone modifying complexes and Cell Cycle, Mitotic.

Fatty acid oxidation disorders and lipin-1 deficiency are the commonest genetic causes of rhabdomyolysis in children. We describe a lipin-1-deficient boy with recurrent, severe rhabdomyolytic episodes from the age of 4 years.

Since more than 50% of our series harboured LPIN1 mutations, LPIN1 should be regarded as a major cause of severe myoglobinuria in early childhood. The high frequency of the intragenic LPIN1 deletion should provide a valuable criterion for fast diagnosis, prior to muscle biopsy.

2023年8月21日 · LPIN1 is a Mg (2+)-dependent phosphatidic acid (PA) phosphohydrolase (EC 3.1.3.4) that catalyzes the dephosphorylation of PA to yield diacylglycerol and inorganic phosphate (Han et al., 2006). Mice carrying mutations in the fatty liver dystrophy (fld) gene have features of human lipodystrophy (Reue et al., 2000).

2022年2月9日 · The immune infiltration analysis showed that lower expression of LPIN1 was related to macrophage infiltration and could be an independent predictor factor of the survival status in sepsis patients.

2022年3月1日 · Background: We previously showed Lipin1 (LPIN1) to be a candidate gene for essential hypertension by genome-wide association studies. LPIN1 encodes the Lipin 1 protein, which contributes to the maintenance of lipid metabolism and glucose homeostasis.

LPIN1 was annotated to the most significantly enriched motifs for genes in the magenta module. The eigengene of the magenta module is most significantly associated with mortality, and thus, the master regulator LPIN1 is also a critical risk factor for …

LPIN1 mutations appear as the second most common cause of early-onset RM, after primary fatty acid oxidation defects as a whole . Heterozygous LPIN1 mutations may also produce symptoms of cramps and exercise-induced myalgia or mild muscular symptoms , as occurred in our family.

2025年2月8日 · LPIN1 Is a Regulatory Factor Associated With Immune Response and Inflammation in Sepsis. Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis. NLIP and HAD-like Domains of Pah1 and Lipin 1 Phosphatidate Phosphatases Are Essential for Their Catalytic Activities.

2024年3月5日 · LPIN1 Is a Regulatory Factor Associated With Immune Response and Inflammation in Sepsis. Dai W, Zheng P, Luo D, Xie Q, Liu F, Shao Q, Zhao N, Qian KDai W, et al. Front Immunol, 2022. PMID 35222395. Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.