Affinage

LPIN1

Phosphatidate phosphatase LPIN1 · UniProt Q14693

Length
890 aa
Mass
98.7 kDa
Annotated
2026-06-10
60 papers in source corpus 17 papers cited in narrative 17 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

LPIN1 encodes lipin 1, a bifunctional Mg2+/Mn2+-dependent phosphatidic acid phosphohydrolase (PAP1) that catalyzes the committed, surface-cooperative dephosphorylation of phosphatidic acid (PA) to diacylglycerol at the heart of glycerolipid biosynthesis (PMID:20231281). Three isoforms (alpha, beta, gamma) share this catalytic mechanism but differ in turnover, all requiring at least one unsaturated acyl chain and being inhibited by Ca2+, Zn2+, propranolol, and sphingoid bases (PMID:20231281). Loss of PAP1 activity is directly pathogenic: biallelic LPIN1 mutations cause PA and lysophospholipid accumulation in muscle and recurrent rhabdomyolysis (PMID:18817903), and disease missense alleles abolish catalysis while sparing substrate binding, with one (p.Leu635Pro) destabilizing the protein and routing it to proteasomal degradation (PMID:25967228). In the peripheral nervous system, Schwann-cell PA accumulation following Lpin1 loss activates MEK-ERK signaling to drive demyelination (PMID:18559480). Beyond its enzymatic role, lipin 1 supports oxidative metabolism: it is induced under nutritional and genotoxic stress through the ROS-ATM-p53 pathway to sustain fatty acid oxidation (PMID:22055193), and in cardiomyocytes it is required for cardiolipin content, mitochondrial respiration, and the inotropic response (PMID:33986192). Lipin 1 expression is set transcriptionally by PPARγ acting through promoter PPRE elements (PMID:35149744) and by GR-dependent activation feeding a LPIN1-PPARα fatty-acid-oxidation axis in hepatocytes (PMID:42212316). In cancer contexts, lipin 1 stabilizes IRS1 by blocking its serine phosphorylation and ubiquitin-dependent degradation to promote RAF1/AP-1 signaling (PMID:27729374), and its DAG product activates PKCδ-NF-κB signaling (PMID:35565351). Lipin 1 also maintains phospholipid homeostasis required for hematopoietic and leukemic stem/progenitor function (PMID:40265168).

Mechanistic history

Synthesis pass · year-by-year structured walk · 17 steps
  1. 2008 High

    Established that LPIN1 loss-of-function is a Mendelian cause of recurrent rhabdomyolysis by removing muscle PAP1 activity and allowing its lipid substrate to accumulate, linking the gene's enzymatic role to human disease.

    Evidence Homozygosity mapping with biochemical phospholipid analysis of patient muscle biopsies

    PMID:18817903

    Open questions at the time
    • Did not resolve why the metabolic defect manifests episodically as rhabdomyolysis
    • Did not establish the downstream signaling consequence of PA accumulation in muscle
  2. 2008 High

    Showed that the same PAP1 substrate, PA, when accumulated in Schwann cells acts as a signaling lipid driving demyelination, defining a mechanistic route from lipid imbalance to neuropathy.

    Evidence Schwann-cell-specific conditional Lpin1 knockout with lipid biochemistry and pharmacological MEK-ERK inhibition

    PMID:18559480

    Open questions at the time
    • Did not identify the PA sensor upstream of MEK-ERK
    • Did not address whether the same mechanism operates in human neuropathy
  3. 2009 Medium

    Demonstrated that partial Lpin1 deficiency interacts non-additively with NrCAM mutation, indicating lipin 1's neuropathic effect can be modified by independent genetic loci.

    Evidence ENU mutagenesis, linkage mapping, and double-mutant electrophysiology in mice

    PMID:19793967

    Open questions at the time
    • Mechanism of synergy between Lpin1 and NrCAM not defined
    • Relevance to human LPIN1 phenotypic variability untested
  4. 2010 High

    Reconstituted the catalytic identity of lipin 1 isoforms, defining LPIN1 as a Mg2+/Mn2+-dependent PA phosphohydrolase with surface-cooperative kinetics and isoform-specific turnover.

    Evidence Purified recombinant alpha/beta/gamma isoforms from E. coli with in vitro kinetics in mixed micelles

    PMID:20231281

    Open questions at the time
    • Physiological division of labor among isoforms not established
    • Structural basis of catalysis and cooperativity not resolved
  5. 2011 High

    Placed LPIN1 induction within a stress-responsive transcriptional circuit, showing the ROS-ATM-p53 pathway upregulates it to support fatty acid oxidation under nutritional and genotoxic stress.

    Evidence p53/ATM genetic and pharmacological perturbation, ChIP of p53 at the Lpin1 promoter, and FAO assays in C2C12 cells

    PMID:22055193

    Open questions at the time
    • Whether induced lipin 1 acts via PAP1 or coactivator function in this context not separated
    • In vivo relevance of the p53-Lpin1 axis not tested
  6. 2011 Medium

    Showed that a truncated PAP1-null Lpin1 in rats produces a milder phenotype than null mice, raising the possibility of compensatory pathways and a non-enzymatic function outside the PAP1 domain.

    Evidence ENU-derived splice mutant rat with PAP1 activity assays, histology, and electrophysiology

    PMID:21715287

    Open questions at the time
    • The putative non-enzymatic function not molecularly defined
    • Compensatory pathways not identified
  7. 2015 High

    Dissected disease missense alleles to show catalysis can be lost while substrate binding and transcriptional regulatory function are retained, separating the enzymatic and regulatory roles of lipin 1.

    Evidence Recombinant mutant kinetics, patient muscle Western blot/IHC, and proteasome inhibitor experiments

    PMID:25967228

    Open questions at the time
    • Structural explanation for selective loss of catalysis not provided
    • Contribution of retained regulatory function to milder phenotypes not quantified
  8. 2016 Medium

    Identified a non-enzymatic protein-protein function whereby LPIN1 binds IRS1 and blocks its degradation, coupling lipin 1 to growth-factor signaling and tumorigenesis.

    Evidence Co-IP, ubiquitination assays, knockdown/overexpression, and syngeneic tumor model in breast cancer cells

    PMID:27729374

    Open questions at the time
    • Reciprocal/structural validation of the LPIN1-IRS1 interaction limited
    • Whether PAP1 activity is required for IRS1 stabilization not resolved
  9. 2017 Medium

    Showed human adipose tissue tolerates LPIN1 loss without lipodystrophy via compensatory SREBP1/PPARG/PGC1A upregulation, revealing species- and tissue-specific buffering of PAP1 deficiency.

    Evidence PAP activity assay, Western blot, and gene expression in patient adipose biopsies plus differentiation assays

    PMID:28986436

    Open questions at the time
    • Molecular basis of compensation not mechanistically dissected
    • Long-term metabolic consequences in patients not assessed
  10. 2017 Low

    Added post-transcriptional control by showing miR-122-5p directly represses LPIN1 in hepatocytes within the triacylglycerol synthesis pathway.

    Evidence Dual-luciferase reporter, qRT-PCR, and Western blot with miR-122 manipulation

    PMID:28287811

    Open questions at the time
    • Indirect pathway placement; functional lipid consequence not directly measured
    • Not independently confirmed in vivo
  11. 2021 High

    Defined a cardiac requirement for lipin 1 in maintaining cardiolipin, mitochondrial respiration, and contractile reserve, broadening its role beyond bulk glycerolipid synthesis.

    Evidence Cardiac-specific KO mouse with lipidomics, mitochondrial respiration, dobutamine/exercise testing, and PKA analysis

    PMID:33986192

    Open questions at the time
    • Mechanism linking lipin 1 to cardiolipin homeostasis not defined
    • Reason for paradoxical DAG/TG elevation despite PAP1 loss unexplained
  12. 2021 Medium

    Identified IL-33-COT-JNK1/2-c-Jun signaling as a transcriptional activator of LPIN1, connecting inflammatory signaling to lipin 1 expression in cancer.

    Evidence ChIP of c-Jun at the LPIN1 promoter with pathway inhibition and expression analysis in breast cancer cells

    PMID:33946554

    Open questions at the time
    • Downstream metabolic/signaling output of induced LPIN1 not fully traced
    • In vivo confirmation limited
  13. 2022 Medium

    Established direct PPARγ-driven transcription of LPIN1 through defined promoter PPRE elements, linking nuclear receptor control to triglyceride synthesis.

    Evidence Promoter deletion, PPRE site-directed mutagenesis, luciferase reporter, and TG measurement in buffalo mammary epithelial cells

    PMID:35149744

    Open questions at the time
    • Conservation of these PPREs in human LPIN1 not addressed
    • Interplay with other transcriptional regulators not examined
  14. 2022 Medium

    Showed LPIN1 confers gefitinib resistance in EGFR-mutant NSCLC by generating DAG that activates PKCδ-NF-κB and promotes lipid droplet formation, implicating its enzymatic product in drug resistance.

    Evidence Knockdown/overexpression, DAG measurement, propranolol inhibition, signaling assays, and xenografts

    PMID:35565351

    Open questions at the time
    • Direct demonstration that PAP1 catalysis produces the signaling DAG pool not isolated
    • Specificity of propranolol effects not fully controlled
  15. 2025 Medium

    Demonstrated that LPIN1 is required for phospholipid homeostasis and proliferation of normal and leukemic hematopoietic stem/progenitor cells, extending its role to stem cell biology.

    Evidence shRNA knockdown, lipidomics, and in vitro/xenotransplant proliferation assays in primary human AML and HSPCs

    PMID:40265168

    Open questions at the time
    • Whether the requirement is catalytic or via the coactivator/IRS1 functions not resolved
    • Therapeutic window between LSC and HSPC dependence not defined
  16. 2026 Medium

    Placed LPIN1 as the essential effector of CXCL6-JNK-GR signaling in hepatocytes, where its suppression of the LPIN1-PPARα axis impairs fatty acid oxidation and drives MASH progression.

    Evidence Cxcl5-deficient mice with Lpin1 knockdown epistasis, GR phosphorylation analysis, and diet-induced MASH model

    PMID:42212316

    Open questions at the time
    • Distinction between PAP1 and coactivator contributions to FAO not made
    • Direct GR occupancy at LPIN1 promoter not fully characterized
  17. 2026 Medium

    Showed cis-regulation of LPIN1 by the enhancer-associated lncRNA CLIPPER controls mitochondrial fission, oxidative metabolism, and cardiomyocyte proliferative capacity after infarction.

    Evidence lncRNA knockdown screen, in vivo Clipper knockdown post-MI, mitochondrial imaging, and proliferation assays

    PMID:41641546

    Open questions at the time
    • Mechanism by which lipin 1 level governs mitochondrial fission not defined
    • Whether enzymatic activity mediates the regenerative phenotype untested

Open questions

Synthesis pass · forward-looking unresolved questions
  • It remains unresolved how lipin 1's enzymatic PAP1 activity, its transcriptional coactivator role, and its protein-stabilizing (IRS1) function are differentially deployed across tissues, and what structural features govern isoform-specific catalysis.
  • No structural model linking catalysis to the regulatory functions
  • No systematic separation-of-function study across tissues
  • Mechanism of subcellular targeting and membrane engagement unresolved

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016787 hydrolase activity 4 GO:0098772 molecular function regulator activity 1 GO:0140110 transcription regulator activity 1
Localization
GO:0005829 cytosol 1
Pathway
R-HSA-1430728 Metabolism 4 R-HSA-74160 Gene expression (Transcription) 4 R-HSA-162582 Signal Transduction 3
Partners
IRS1

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2010 Human LPIN1 encodes phosphatidate (PA) phosphatase (PAP1) activity; three isoforms (alpha, beta, gamma) purified from E. coli all require Mg2+ or Mn2+ ions and follow saturation kinetics for PA as substrate, with positive cooperative kinetics for PA surface concentration (Hill number ~2). Isoforms differ in turnover numbers (kcat: alpha 68.8, beta 42.8, gamma 5.7 s-1) and require at least one unsaturated fatty acyl moiety for maximum activity. Activity is inhibited by Ca2+, Zn2+, N-ethylmaleimide, propranolol, and sphingoid bases. Recombinant protein expression in E. coli, purification to near-homogeneity, in vitro enzyme kinetics in Triton X-100/PA mixed micelles The Journal of biological chemistry High 20231281
2008 LPIN1 mutations (identified by homozygosity mapping) cause loss of the muscle-specific phosphatidic acid phosphatase (PAP1) function, leading to accumulation of phosphatidic acid and lysophospholipids in muscle tissue and recurrent rhabdomyolysis. Phospholipid analysis of patient muscle biopsies directly demonstrated PA/lysophospholipid accumulation in the more severe genotypes. Homozygosity mapping, mutation identification in LPIN1, biochemical phospholipid analysis of patient muscle biopsies American journal of human genetics High 18817903
2008 Schwann cell-specific deletion of Lpin1 leads to peripheral demyelination mediated by endoneurial accumulation of phosphatidic acid (PA), the substrate of the PAP1 enzyme. PA was shown to be a potent activator of the MEK-ERK pathway in Schwann cells, and MEK-ERK activation was required for PA-induced demyelination. Conditional knockout (Schwann cell-specific Lpin1 deletion), lipid biochemistry, cell signaling assays (MEK-ERK pathway activation), pharmacological inhibition of MEK-ERK Genes & development High 18559480
2011 Lpin1 is a p53-responsive gene induced by DNA damage and glucose deprivation. p53 and Lpin1 regulate fatty acid oxidation in C2C12 myoblasts. Lpin1 expression in response to nutritional stress is controlled through the ROS-ATM-p53 pathway (p53 phosphorylation on Ser18 is ROS- and ATM-dependent), and this pathway is conserved in human cells. Genetic (p53 loss-of-function, ATM inhibition), ROS manipulation, chromatin immunoprecipitation (p53 binding to Lpin1 promoter), fatty acid oxidation assays in C2C12 cells Molecular cell High 22055193
2015 Pathogenic LPIN1 missense mutations (p.Leu635Pro and p.Arg725His) cause loss of phosphatidic acid phosphohydrolase (PAP) catalytic activity without diminishing substrate binding (kinetic analyses indicate loss of catalysis). p.Leu635Pro protein is less stable, aggregates in cytosol, and is targeted for proteasomal degradation, and shows abnormal subcellular localization in patient muscle. p.Arg725His retains transcriptional regulatory function but lacks PAP activity. Recombinant lipin 1 expression with patient mutations, PAP enzyme activity assays, kinetic analyses, Western blotting of patient muscle biopsy, immunohistochemical localization, proteasome inhibitor experiments JIMD reports High 25967228
2011 A truncated Lpin1 protein lacking PAP1 activity (from a splice-site mutation causing frameshift and premature stop codon) is produced in Lpin1(1Hubr) rats and results in hypomyelination and mild lipodystrophy. Compensatory biochemical pathways substituting for missing PAP1 activity are activated, and a possible non-enzymatic Lpin1 function residing outside its PAP1 domain may contribute to the less severe phenotype compared to null mice. N-ethyl-N-nitrosourea mutagenesis, sequencing, PAP1 activity assays, histology, electrophysiology, biochemical pathway analysis The Journal of biological chemistry Medium 21715287
2016 LPIN1 interacts with insulin receptor substrate 1 (IRS1) in an IGF-1-dependent manner and inhibits IRS1 serine phosphorylation, thereby preventing ubiquitin-dependent proteasomal and lysosomal degradation of IRS1. LPIN1 overexpression increases IRS1 abundance and activates RAF1-mediated signaling and AP-1 activity to promote mammary tumorigenesis. Co-immunoprecipitation, overexpression and knockdown in breast cancer cells, ubiquitination assays, proteasome/lysosome inhibitor experiments, in vivo syngeneic tumor model Carcinogenesis Medium 27729374
2021 IL-33-induced COT-JNK1/2 signaling pathway regulates LPIN1 mRNA and protein expression by recruiting c-Jun to the LPIN1 promoter in breast cancer cells, providing a mechanism for transcriptional upregulation of LPIN1. qRT-PCR, Western blotting, chromatin immunoprecipitation (c-Jun binding to LPIN1 promoter), pharmacological inhibition of COT and JNK1/2, overexpression/knockdown Cancers Medium 33946554
2021 Cardiac-specific lipin 1 knockout (cs-Lpin1-/-) increases PA content in hearts and unexpectedly also elevates diacylglycerol and triglyceride. Loss of lipin 1 diminishes cardiac cardiolipin content and impairs mitochondrial respiration with pyruvate or succinate as substrates. Loss of lipin 1 dampens the cardiac inotropic response to dobutamine and exercise endurance, associated with reduced protein kinase A signaling. Cardiac-specific KO mouse model, lipidomics, mitochondrial respiration assays, dobutamine stress, exercise testing, protein kinase A signaling analysis, transverse aortic constriction JCI insight High 33986192
2022 LPIN1 promotes triglyceride synthesis in buffalo mammary epithelial cells and is directly transcriptionally regulated by PPARγ binding to two PPAR response elements (PPRE1 and PPRE2) in the core LPIN1 promoter region (-666 to +42 bp). Site mutagenesis of these PPREs abolished PPARγ-driven LPIN1 transcription. Overexpression and lentivirus-mediated knockdown, promoter deletion analysis, site-directed mutagenesis of PPREs, dual-luciferase reporter assay, qRT-PCR, triglyceride content measurement Scientific reports Medium 35149744
2017 Human adipose tissue from LPIN1 biallelic loss-of-function mutation patients shows dramatically decreased lipin-1 protein and PAP activity, with compensatory increases in SREBP1, PPARG, and PGC1A expression, while adipose tissue develops without overt lipodystrophy and with normal qualitative lipid composition, indicating species-specific compensatory mechanisms. Histopathological analysis, PAP activity assay in patient adipose tissue biopsies, Western blotting, gene expression analysis, mesenchymal cell differentiation assays Journal of lipid research Medium 28986436
2022 LPIN1 induces gefitinib resistance in EGFR-mutant NSCLC cells by generating diacylglycerol upon gefitinib treatment, which activates protein kinase C delta and NF-κB in an LPIN1-dependent manner. LPIN1 also increases lipid droplet production. shRNA depletion or propranolol inhibition of LPIN1 reduced tumor growth in vivo. Overexpression and shRNA knockdown, DAG measurement, pharmacological inhibition (propranolol), PKC delta and NF-κB signaling assays, lipid droplet quantification, in vivo xenograft Cancers Medium 35565351
2009 Concurrent partial loss-of-function mutations in Lpin1 and NrCAM act synergistically (not additively) to cause severe peripheral neuropathy with transitory hindlimb paralysis. The Lpin1 mutation alone caused demyelination and aberrant myelin structures, while NrCAM mutation alone showed normal sciatic nerve morphology; the double mutant had more severe electrophysiological defects than either single mutant. N-ethyl-N-nitrosourea mutagenesis, linkage mapping, double-mutant analysis, behavioral testing, histology, electrophysiology The Journal of neuroscience Medium 19793967
2025 LPIN1 is required for normal hematopoietic stem/progenitor cell (HSPC) and leukemic stem cell (LSC) function. LPIN1 suppression reduces phosphatidylcholine and phosphatidylethanolamine while upregulating sphingomyelin, altering phospholipid homeostasis. LPIN1 knockdown inhibited proliferation of primary leukemic cells and normal HSPCs both in vitro and in xenotransplantation assays. LPIN1 knockdown (shRNA), lipidomics, in vitro proliferation assays, xenotransplantation in vivo assays, primary human AML samples HemaSphere Medium 40265168
2026 CXCL6 activates JNK, leading to inhibitory phosphorylation of the glucocorticoid receptor (GR), which prevents GR-dependent activation of the LPIN1 promoter, thereby suppressing LPIN1-PPARα axis in hepatocytes and impairing fatty acid oxidation. Lpin1 knockdown reversed the protective phenotype in Cxcl5-deficient mice, confirming LPIN1 suppression as the essential driver of CXCL6-mediated MASH progression. Genetic KO (Cxcl5-deficient mice), Lpin1 knockdown, JNK inhibition, GR phosphorylation analysis, promoter activity assays, hepatic lipid and gene expression analysis, in vivo diet-induced MASH model International journal of biological sciences Medium 42212316
2026 CLIPPER, an enhancer-associated long noncoding RNA, regulates LPIN1 expression in cis in cardiomyocytes. Clipper or Lpin1 silencing stimulates productive mitochondrial fission (midzone positioning), decreases oxidative metabolism, reduces ROS production, dampens DNA damage, and creates conditions permissive for cardiomyocyte proliferation and cardiac regeneration after myocardial infarction. High-throughput lncRNA knockdown screen, in vivo Clipper knockdown after myocardial infarction, mitochondrial imaging (fission site positioning), metabolic assays, ROS measurement, cardiomyocyte proliferation assays Circulation research Medium 41641546
2017 hsa-miR-122-5p directly represses LPIN1 expression in hepatocytes, as confirmed by dual-luciferase reporter assay, qRT-PCR, and Western blot. LPIN1 is identified as a downstream target in the triacylglycerol synthesis pathway regulated by miR-122. Dual-luciferase reporter assay, qRT-PCR, Western blot in hepatocytes with miR-122 manipulation Archives of Iranian medicine Low 28287811

Source papers

Stage 0 corpus · 60 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2008 ACSL1, AGPAT6, FABP3, LPIN1, and SLC27A6 are the most abundant isoforms in bovine mammary tissue and their expression is affected by stage of lactation. The Journal of nutrition 183 18492828
2008 Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. American journal of human genetics 173 18817903
2011 ROS-mediated p53 induction of Lpin1 regulates fatty acid oxidation in response to nutritional stress. Molecular cell 159 22055193
2010 Characterization of the human LPIN1-encoded phosphatidate phosphatase isoforms. The Journal of biological chemistry 132 20231281
2008 Phosphatidic acid mediates demyelination in Lpin1 mutant mice. Genes & development 121 18559480
2010 LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Human mutation 102 20583302
2019 Exosomal miR-451a Functions as a Tumor Suppressor in Hepatocellular Carcinoma by Targeting LPIN1. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 72 31162914
2007 Genetic variants within the LPIN1 gene, encoding lipin, are influencing phenotypes of the metabolic syndrome in humans. Diabetes 71 17940119
2008 Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations. Diabetes 42 18591397
2022 LPIN1 Is a Regulatory Factor Associated With Immune Response and Inflammation in Sepsis. Frontiers in immunology 36 35222395
2015 Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity. JIMD reports 33 25967228
2011 A hypomorphic mutation in Lpin1 induces progressively improving neuropathy and lipodystrophy in the rat. The Journal of biological chemistry 28 21715287
2021 Myocardial Lipin 1 knockout in mice approximates cardiac effects of human LPIN1 mutations. JCI insight 26 33986192
2015 A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis--The Austrian experience. Muscle & nerve 25 26111941
2008 LPIN1 genetic variation is associated with rosiglitazone response in type 2 diabetic patients. Molecular genetics and metabolism 24 18693052
2022 LPIN1 promotes triglycerides synthesis and is transcriptionally regulated by PPARG in buffalo mammary epithelial cells. Scientific reports 23 35149744
2008 Investigation of Lpin1 as a candidate gene for fat deposition in pigs. Molecular biology reports 23 18581256
2020 miR-429-3p/LPIN1 Axis Promotes Chicken Abdominal Fat Deposition via PPARγ Pathway. Frontiers in cell and developmental biology 22 33425901
2015 LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy. Molecular genetics and metabolism reports 22 28649549
2007 Human subcutaneous adipose tissue LPIN1 expression in obesity, type 2 diabetes mellitus, and human immunodeficiency virus--associated lipodystrophy syndrome. Metabolism: clinical and experimental 22 17950103
2009 Concurrent Lpin1 and Nrcam mouse mutations result in severe peripheral neuropathy with transitory hindlimb paralysis. The Journal of neuroscience : the official journal of the Society for Neuroscience 21 19793967
2010 Relation between human LPIN1, hypoxia and endoplasmic reticulum stress genes in subcutaneous and visceral adipose tissue. International journal of obesity (2005) 20 20101248
2002 Identification of single-nucleotide polymorphisms in the human LPIN1 gene. Journal of human genetics 19 12111372
2020 MiRNA-584 suppresses the progression of ovarian cancer by negatively regulating LPIN1. European review for medical and pharmacological sciences 18 32096176
2019 Genetic Effects of LPIN1 Polymorphisms on Milk Production Traits in Dairy Cattle. Genes 18 30986988
2011 Association of PPARG and LPIN1 gene polymorphisms with metabolic syndrome and type 2 diabetes. Medicinski glasnik : official publication of the Medical Association of Zenica-Doboj Canton, Bosnia and Herzegovina 18 21263402
2017 Two Triacylglycerol Pathway Genes, CTDNEP1 and LPIN1, are Down-Regulated by hsa-miR-122-5p in Hepatocytes. Archives of Iranian medicine 17 28287811
2017 Normal human adipose tissue functions and differentiation in patients with biallelic LPIN1 inactivating mutations. Journal of lipid research 17 28986436
2015 Molecular analysis of LPIN1 in Jordanian patients with rhabdomyolysis. Meta gene 15 26909335
2020 A rare case of adult onset LPIN1 associated rhabdomyolysis. Neuromuscular disorders : NMD 14 32115342
2021 miRNA-124-3p targeting of LPIN1 attenuates inflammation and apoptosis in aged male rats cardiopulmonary bypass model of perioperative neurocognitive disorders. Experimental gerontology 13 34601076
2016 LPIN1 promotes epithelial cell transformation and mammary tumourigenesis via enhancing insulin receptor substrate 1 stability. Carcinogenesis 13 27729374
2021 IL-33-Induced Transcriptional Activation of LPIN1 Accelerates Breast Tumorigenesis. Cancers 11 33946554
2010 Studies of association between LPIN1 variants and common metabolic phenotypes among 17,538 Danes. European journal of endocrinology 11 20356931
2021 MiR-99b-5p Attenuates Adipogenesis by Targeting SCD1 and Lpin1 in 3T3-L1 Cells. Journal of agricultural and food chemistry 9 33599498
2022 LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations. Molecular genetics and metabolism reports 8 35242575
2018 Phenotypic Modulation of Skeletal Muscle Fibers in LPIN1-Deficient Lipodystrophic ( fld) Mice. Veterinary pathology 8 30381013
2013 A single-nucleotide polymorphism in the 3' untranslated region of the LPIN1 gene and association analysis with performance traits in chicken. British poultry science 8 23796115
2012 Identification of the transcript isoforms and expression characteristics for chicken Lpin1. Animal : an international journal of animal bioscience 7 23031312
2010 Lpin1 in human visceral and subcutaneous adipose tissue: similar levels but different associations with lipogenic and lipolytic genes. American journal of physiology. Endocrinology and metabolism 7 20530740
2021 Acute recurrent rhabdomyolysis in a Chinese boy associated with a novel compound heterozygous LPIN1 variant: a case report. BMC neurology 6 33514355
2021 Sequence Variation in the Bovine Lipin-1 Gene (LPIN1) and Its Association with Milk Fat and Protein Contents in New Zealand Holstein-Friesian × Jersey (HF × J)-cross Dairy Cows. Animals : an open access journal from MDPI 6 34827956
2022 Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to favorable outcome of acute compartment syndrome. Neuromuscular disorders : NMD 5 36195520
2021 LPIN1 downregulation enhances anticancer activity of the novel HDAC/PI3K dual inhibitor FK-A11. Cancer science 5 33274548
2020 A neglected cause of recurrent rhabdomyolysis, LPIN1 gene defect: a rare case from Turkey. The Turkish journal of pediatrics 5 32779418
2022 LPIN1 is a new target gene for essential hypertension. Journal of hypertension 4 34772856
2020 A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1. BMC pediatrics 4 32410653
2020 First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood. Neuromuscular disorders : NMD 4 32522502
2018 Volatile anesthesia for a child with LPIN1 gene mutation and recurrent rhabdomyolysis. Paediatric anaesthesia 4 30035342
2015 Three indel variants in chicken LPIN1 exon 6/flanking region are associated with performance and carcass traits. British poultry science 4 26523976
2025 Adult-Onset Episodic Rhabdomyolysis in a Patient With a Heterozygous Lipin 1 (LPIN1) Mutation: A Case Report. Cureus 3 39897188
2024 Transcriptome analysis reveals the synergistic involvement of MGLL and LPIN1 in fatty acid synthesis in broiler pectoral muscles. Heliyon 3 39166083
2022 LPIN1 Induces Gefitinib Resistance in EGFR Inhibitor-Resistant Non-Small Cell Lung Cancer Cells. Cancers 3 35565351
2023 Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency. Molecular genetics and metabolism reports 2 36941958
2015 Association of LPIN1 gene variations with markers of metabolic syndrome in population from Bosnia and Herzegovina. Medicinski glasnik : official publication of the Medical Association of Zenica-Doboj Canton, Bosnia and Herzegovina 2 26276647
2026 CLIPPER Regulates LPIN1-Mediated Mitochondrial Biogenesis and Heart Regeneration. Circulation research 1 41641546
2025 Phosphatidic acid phosphatase LPIN1 in phospholipid metabolism and stemness in hematopoiesis and AML. HemaSphere 1 40265168
2026 CXCL6 exacerbates metabolic dysfunction-associated steatohepatitis by suppressing LPIN1-mediated fatty acid oxidation in hepatocytes. International journal of biological sciences 0 42212316
2024 Association of three single nucleotide polymorphisms in the LPIN1 gene with milk production traits in cows of the Yaroslavl breed. Vavilovskii zhurnal genetiki i selektsii 0 38465251
2020 Detection of compound heterozygous variants in LPIN1 does not necessarily imply pathogenicity in a patient with rhabdomyolysis. F1000Research 0 32913636

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