PLIN1, perilipin 1, 5346

N. diseases: 85; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 AlteredExpression disease BEFREE We validated both the molecular and histologic features of this model in a clinical cohort of primary chemoresistant TNBCs and identified several metabolic vulnerabilities including a dependence on PLIN4, a perilipin coating the observed lipid droplets, expressed both in the TNBC-resistant cells and clinical chemoresistant tumors treated with neoadjuvant doxorubicin-based chemotherapy. 31537618 2019
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 AlteredExpression disease BEFREE We validated both the molecular and histologic features of this model in a clinical cohort of primary chemoresistant TNBCs and identified several metabolic vulnerabilities including a dependence on PLIN4, a perilipin coating the observed lipid droplets, expressed both in the TNBC-resistant cells and clinical chemoresistant tumors treated with neoadjuvant doxorubicin-based chemotherapy. 31537618 2019
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		0.010 AlteredExpression disease BEFREE We sought to determine the effects of severe obesity and depot [omental (Om) vs. subcutaneous (Sc)] on perilipin expression in the adipose tissue of individuals. 12917496 2003
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.130 GeneticVariation disease BEFREE We recently identified the first human loss-of-function mutations in PLIN1 in patients with a novel form of familial partial lipodystrophy, severe insulin resistance, diabetes, dyslipidaemia and fatty liver. 23392103 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.130 GeneticVariation disease BEFREE We recently identified the first human loss-of-function mutations in PLIN1 in patients with a novel form of familial partial lipodystrophy, severe insulin resistance, diabetes, dyslipidaemia and fatty liver. 23392103 2013
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.370 GeneticVariation disease BEFREE We recently identified the first human loss-of-function mutations in PLIN1 in patients with a novel form of familial partial lipodystrophy, severe insulin resistance, diabetes, dyslipidaemia and fatty liver. 23392103 2013
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.140 GeneticVariation disease BEFREE We performed histological and molecular studies for patients referred to our French National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity for lipodystrophy and/or insulin resistance and carrying PLIN1 frameshift variants. 31504636 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 GeneticVariation group BEFREE We performed adipose tissue mRNA expression of proteins involved in triglyceride hydrolysis and correlated their weight loss induced alterations with systemic parameters associated with cardiovascular disease risk. mRNA transcripts of adipose triglyceride lipase (ATGL), hormone-sensitive lipase (HSL), and lipid droplet proteins comparative gene identification 58 (CGI-58) and perilipin increased significantly after weight loss (p < 0.05 for all). 26663986 2015
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		0.020 GeneticVariation disease BEFREE We identified two heterozygous frameshift mutations in the perilipin gene (PLIN1) in three families with partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes. 21345103 2011
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.010 GeneticVariation disease BEFREE We found that control iPSCs, as well as iPSCs derived from oculodentodigital dysplasia patient fibroblasts harboring a <i>GJA1</i> (Cx43) gene mutation, successfully and efficiently differentiated into LipidTox and perilipin-positive cells, indicating cell differentiation along the adipogenic lineage. 31514306 2019
CUI: C1391732
Disease: Cancer cachexia
Cancer cachexia 		0.010 AlteredExpression disease BEFREE We found augmented lipolysis in CC associated with increased HSL expression, as well as upregulation of ATGL expression and reduction in perilipin 1 content. 28830524 2017
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE We examined whether dietary macronutrients (e.g. carbohydrates and fats) modulated the associations of the common PLIN 11482G > A (rs894160) single nucleotide polymorphism with obesity. 18806092 2008
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.010 Biomarker disease BEFREE We employed various biochemical and immunological approaches to demonstrate that OPA1-bound PKA phosphorylates perilipin 1 at S522 and S497 on lipolytic stimulation. 29688805 2018
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.010 GeneticVariation disease BEFREE We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and "Jordan's anomaly" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan's anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance). 25300978 2015
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.010 GeneticVariation disease BEFREE We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and "Jordan's anomaly" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan's anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance). 25300978 2015
CUI: C0021831
Disease: Intestinal Diseases
Intestinal Diseases 		0.010 Biomarker group BEFREE We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and "Jordan's anomaly" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan's anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance). 25300978 2015
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE Update on perilipin polymorphisms and obesity. 23035807 2012
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.020 Biomarker disease BEFREE To clarify the role of PLIN1 in the pathophysiology of atherosclerosis, we assessed the progression of atherosclerosis in PLIN1 transgenic mice (Plin1Tg). 29407594 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.020 Biomarker disease BEFREE To clarify the role of PLIN1 in the pathophysiology of atherosclerosis, we assessed the progression of atherosclerosis in PLIN1 transgenic mice (Plin1Tg). 29407594 2018
CUI: C0028754
Disease: Obesity
Obesity 		0.400 Biomarker disease BEFREE Thus, the present study suggests that PCB-138-induced LD enlargement endows adipocytes with resistance to TNF-α-induced cell death and that Fsp27, perilipin, and survivin, at least in part, help adipocytes to sustain enlarged LDs, contributing to the induction of obesity. 29704545 2018
CUI: C0028754
Disease: Obesity
Obesity 		0.400 Biomarker disease CTD_human Thus, perilipin was elevated in obese subjects, perhaps as a compensatory mechanism to limit basal lipolysis. 15001633 2004
CUI: C0028754
Disease: Obesity
Obesity 		0.400 Biomarker disease BEFREE Thus, perilipin was elevated in obese subjects, perhaps as a compensatory mechanism to limit basal lipolysis. 15001633 2004
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		0.020 GeneticVariation disease BEFREE Three heterozygous protein extending frameshift variants in PLIN1 have been reported to cause a phenotype of partial lipodystrophy and insulin resistance. 30020498 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.120 GeneticVariation group BEFREE This study was aimed to replicate the associations between three Perilipin Gene (PLIN) variants (rs894160, rs1052700, and rs2304796) and diabetes risks and to evaluate the overall effects of these variants on diabetes risk and obesity risk. 23517113 2013
CUI: C0011847
Disease: Diabetes
Diabetes 		0.020 GeneticVariation disease BEFREE This study was aimed to replicate the associations between three Perilipin Gene (PLIN) variants (rs894160, rs1052700, and rs2304796) and diabetes risks and to evaluate the overall effects of these variants on diabetes risk and obesity risk. 23517113 2013