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: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		0.010 Biomarker disease BEFREE Childhood Obesity Risk in Relationship to Perilipin 1 (<i>PLIN1</i>) Gene Regulation by Circulating microRNAs. 31851864 2020
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated 		0.010 Biomarker disease BEFREE Perilipin 1 was immunohistochemically positive in all studied cases of well-differentiated liposarcomas, >90% of myxoid round cell liposarcomas, and >70% of pleomorphic liposarcomas, whereas only the differentiated components of dedifferentiated liposarcomas were immunohistochemically positive for perilipin 1. 31125552 2019
CUI: C0205825
Disease: Liposarcoma, Pleomorphic
Liposarcoma, Pleomorphic 		0.010 Biomarker disease BEFREE Perilipin 1 was immunohistochemically positive in all studied cases of well-differentiated liposarcomas, >90% of myxoid round cell liposarcomas, and >70% of pleomorphic liposarcomas, whereas only the differentiated components of dedifferentiated liposarcomas were immunohistochemically positive for perilipin 1. 31125552 2019
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma 		0.010 AlteredExpression disease BEFREE Perilipin 1 Expression Differentiates Liposarcoma from Other Types of Soft Tissue Sarcoma. 31125552 2019
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma 		0.010 AlteredExpression disease BEFREE Perilipin 1 Expression Differentiates Liposarcoma from Other Types of Soft Tissue Sarcoma. 31125552 2019
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: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.010 AlteredExpression group BEFREE Muscle atrophy occurred and adipogenic gene expression, Perilipin and FABP4 were markedly increased in the hind limb muscle of CKD mice. 31606201 2019
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: C3898127
Disease: Non-Metastatic Childhood Soft Tissue Sarcoma
Non-Metastatic Childhood Soft Tissue Sarcoma 		0.010 AlteredExpression disease BEFREE Perilipin 1 Expression Differentiates Liposarcoma from Other Types of Soft Tissue Sarcoma. 31125552 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: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.010 AlteredExpression disease BEFREE Ovaries from female rabbits belonging to the control (n=7) and hypothyroid (n=7) groups were processed to measure total cholesterol (TC), triacylglycerol (TAG) and glycogen content, as well as to determine the presence of granules containing oxidized lipids (oxysterols and lipofuscin) and the relative expression of perilipin A (PLIN-A) and PPARδ. 29720336 2018
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.010 Biomarker disease BEFREE Our data provide strong support for the conclusion that perilipin 1 autoantibodies are a cause of generalized lipodystrophy in these patients. 30283460 2018
CUI: C0271693
Disease: Acquired generalized lipodystrophy
Acquired generalized lipodystrophy 		0.010 Biomarker disease BEFREE Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy. 30283460 2018
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: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy 		0.010 Biomarker disease BEFREE Our data provide strong support for the conclusion that perilipin 1 autoantibodies are a cause of generalized lipodystrophy in these patients. 30283460 2018
CUI: C0006625
Disease: Cachexia
Cachexia 		0.010 AlteredExpression phenotype BEFREE Lipases and lipid droplet-associated protein expression in subcutaneous white adipose tissue of cachectic patients with cancer. 28830524 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE Lipases and lipid droplet-associated protein expression in subcutaneous white adipose tissue of cachectic patients with cancer. 28830524 2017
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 Biomarker disease BEFREE The lipid droplet-associated protein perilipin 3 facilitates hepatitis C virus-driven hepatic steatosis. 27941027 2017
CUI: C0279565
Disease: Invasive Lobular Breast Carcinoma
Invasive Lobular Breast Carcinoma 		0.010 AlteredExpression disease BEFREE Among all invasive cancers, HSL and FABP4 were highly expressed in luminal A-type ILC (<i>p</i> < 0.001) and perilipin A in luminal A-type IDC (<i>p</i> = 0.007). 28124996 2017
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		0.010 Biomarker disease BEFREE Extensive decrease of synovial adipose tissue area, adipocyte size and perilipin-1A synthesis were observed in the OA-HFD group in comparison to the OA and control groups. 29191221 2017
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.010 Biomarker disease BEFREE Compared to CNT women and to men, and controlling for age, PERI and MENO groups exhibited increased indicators of AD endophenotype, including hypometabolism, increased Aβ deposition, and reduced gray and white matter volumes in AD-vulnerable regions (<i>p</i> < 0.001). 28855400 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 AlteredExpression group BEFREE Lipases and lipid droplet-associated protein expression in subcutaneous white adipose tissue of cachectic patients with cancer. 28830524 2017
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: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 Biomarker disease BEFREE Among all invasive cancers, HSL and FABP4 were highly expressed in luminal A-type ILC (<i>p</i> < 0.001) and perilipin A in luminal A-type IDC (<i>p</i> = 0.007). 28124996 2017
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		0.010 Biomarker group BEFREE However, perilipin 1 appeared to be a highly specific marker for liposarcoma and adipocytic differentiation in sarcomas with intermediate sensitivity. 27646609 2017