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Disease on EC 2.3.1.B46 - 1-acylglycerophosphatidylinositol O-acyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
1-acylglycerophosphatidylinositol o-acyltransferase deficiency
Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability.
Loss of hepatic Mboat7 leads to liver fibrosis.
LPIAT1 regulates arachidonic acid content in phosphatidylinositol and is required for cortical lamination in mice.
Adenocarcinoma
The MBOAT7 rs641738 variant is associated with an improved outcome in primary sclerosing cholangitis.
Carcinogenesis
The ACSL3-LPIAT1 signaling drives prostaglandin synthesis in non-small cell lung cancer.
Carcinoma, Hepatocellular
Independent and additive effects of PNPLA3 and TM6SF2 polymorphisms on the development of non-B, non-C hepatocellular carcinoma.
MBOAT7 rs641738 variant and hepatocellular carcinoma in non-cirrhotic individuals.
The MBOAT7 rs641738 variant is associated with an improved outcome in primary sclerosing cholangitis.
Cardiovascular Diseases
Metabolic syndrome but not genetic polymorphisms known to induce NAFLD predicts increased total mortality in subjects with NAFLD (OPERA study).
Cholangitis, Sclerosing
The MBOAT7 rs641738 variant in primary sclerosing cholangitis: A novel biomarker for prognostication.
The MBOAT7 rs641738 variant is associated with an improved outcome in primary sclerosing cholangitis.
Coronary Artery Disease
PNPLA3, TM6SF2, and MBOAT7 Genotypes and Coronary Artery Disease.
COVID-19
Genetic insight into COVID-19 related liver injury: A note on MBOAT7.
Epilepsy
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
Fatty Liver
A Novel Phosphoinositide-3-kinase Adapter Protein 1 Gene Missense Mutation in Familial Cirrhosis.
Association between MBOAT7 rs641738 polymorphism and non-alcoholic fatty liver in overweight or obese children.
Combined use of genetic polymorphisms and elastographic techniques in NAFLD. Fact or fiction?
Genetic predisposition similarities between NASH and ASH: Identification of new therapeutic targets.
Hepatic Deletion of Mboat7 (Lpiat1) Causes Activation of SREBP-1c and Fatty Liver.
Hepatic deletion of Mboat7 (Lpiat1) causes activation of SREBP-1c and fatty liver.
Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability.
LPIAT1/MBOAT7 contains a catalytic dyad transferring polyunsaturated fatty acids to lysophosphatidylinositol.
Mboat7 down-regulation by hyper-insulinemia induces fat accumulation in hepatocytes.
MBOAT7 is anchored to endomembranes by six transmembrane domains.
Metabolic syndrome but not genetic polymorphisms known to induce NAFLD predicts increased total mortality in subjects with NAFLD (OPERA study).
Racial differences in prevalence and severity of non-alcoholic fatty liver disease.
rs641738C>T near MBOAT7 is associated with liver fat, ALT, and fibrosis in NAFLD: a meta-analysis.
The MBOAT7 variant rs641738 alters hepatic phosphatidylinositols and increases severity of non-alcoholic fatty liver disease in humans.
The rs626283 Variant in the MBOAT7 Gene is Associated with Insulin Resistance and Fatty Liver in Caucasian Obese Youth.
TM6SF2 and MBOAT7 Gene Variants in Liver Fibrosis and Cirrhosis.
[Secondary causes of fatty liver disease - an update on pathogenesis, diagnosis and treatment strategies].
Hepatitis B
Effect of MBOAT7 variant on hepatitis B and C infections in Moroccan patients.
Hepatitis B, Chronic
Effect of MBOAT7 variant on hepatitis B and C infections in Moroccan patients.
The MBOAT7 variant rs641738 increases inflammation and fibrosis in chronic hepatitis B.
Hepatitis C
Hepatocellular Carcinoma Risk Stratification by Genetic Profiling in Patients with Cirrhosis.
MBOAT7 rs641738 increases risk of liver inflammation and transition to fibrosis in chronic hepatitis C.
Hepatitis C, Chronic
Effect of MBOAT7 variant on hepatitis B and C infections in Moroccan patients.
MBOAT7 rs641738 increases risk of liver inflammation and transition to fibrosis in chronic hepatitis C.
Infections
Effect of MBOAT7 variant on hepatitis B and C infections in Moroccan patients.
Insulin Resistance
Genetic determinants of hepatic steatosis and serum cytokeratin-18 fragment levels in Taiwanese children.
Human and molecular genetics shed lights on fatty liver disease and diabetes conundrum.
The rs626283 Variant in the MBOAT7 Gene is Associated with Insulin Resistance and Fatty Liver in Caucasian Obese Youth.
Intellectual Disability
Expanding the phenotypic spectrum of MBOAT7-related intellectual disability.
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.
Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability.
MBOAT7 is anchored to endomembranes by six transmembrane domains.
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families.
Liver Cirrhosis
Association between MBOAT7 rs641738 polymorphism and non-alcoholic fatty liver in overweight or obese children.
Loss of hepatic Mboat7 leads to liver fibrosis.
MBOAT7 rs641738 increases risk of liver inflammation and transition to fibrosis in chronic hepatitis C.
The impact of genetic risk on liver fibrosis in non-alcoholic fatty liver disease as assessed by magnetic resonance elastography.
The Membrane-bound O-Acyltransferase7 rs641738 Variant in Pediatric Nonalcoholic Fatty Liver Disease.
TM6SF2 and MBOAT7 Gene Variants in Liver Fibrosis and Cirrhosis.
Liver Cirrhosis, Alcoholic
A two gene-based risk score predicts alcoholic cirrhosis development in males with at-risk alcohol consumption.
MBOAT7 rs641738 increases risk of liver inflammation and transition to fibrosis in chronic hepatitis C.
TM6SF2 and MBOAT7 Gene Variants in Liver Fibrosis and Cirrhosis.
Liver Diseases
A Novel Phosphoinositide-3-kinase Adapter Protein 1 Gene Missense Mutation in Familial Cirrhosis.
Association Between a Polymorphism in MBOAT7 and Chronic Kidney Disease in Patients With Biopsy-confirmed Nonalcoholic Fatty Liver Disease.
Association of MBOAT7 gene variant with plasma ALT levels in children: the PANIC study.
Combined effects of the PNPLA3 rs738409, TM6SF2 rs58542926, and MBOAT7 rs641738 variants on NAFLD severity: a multicenter biopsy-based study.
Effect of MBOAT7 variant on hepatitis B and C infections in Moroccan patients.
Genetic predisposition similarities between NASH and ASH: Identification of new therapeutic targets.
Genetic Susceptibility to Chronic Liver Disease in Individuals from Pakistan.
Hepatic Deletion of Mboat7 (Lpiat1) Causes Activation of SREBP-1c and Fatty Liver.
Hepatocellular Carcinoma Risk Stratification by Genetic Profiling in Patients with Cirrhosis.
Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability.
Independent and additive effects of PNPLA3 and TM6SF2 polymorphisms on the development of non-B, non-C hepatocellular carcinoma.
Leveraging Human Genetics to Identify Potential New Treatments for Fatty Liver Disease.
LPIAT1/MBOAT7 contains a catalytic dyad transferring polyunsaturated fatty acids to lysophosphatidylinositol.
MBOAT7 is anchored to endomembranes by six transmembrane domains.
Meta-analysis of the association between MBOAT7 rs641738, TM6SF2 rs58542926 and nonalcoholic fatty liver disease susceptibility.
Metabolic syndrome but not genetic polymorphisms known to induce NAFLD predicts increased total mortality in subjects with NAFLD (OPERA study).
Obesity-linked suppression of membrane-bound O-acyltransferase 7 (MBOAT7) drives non-alcoholic fatty liver disease.
Risk of chemotherapy-associated liver injury (CALI) in PNPLA3 p.148M allele carriers: Preliminary results of a transient elastography-based study.
rs641738C>T near MBOAT7 is associated with liver fat, ALT, and fibrosis in NAFLD: a meta-analysis.
The MBOAT7 rs641738 variant is associated with an improved outcome in primary sclerosing cholangitis.
The MBOAT7 variant rs641738 alters hepatic phosphatidylinositols and increases severity of non-alcoholic fatty liver disease in humans.
TM6SF2 and MBOAT7 Gene Variants in Liver Fibrosis and Cirrhosis.
[Secondary causes of fatty liver disease - an update on pathogenesis, diagnosis and treatment strategies].
Liver Diseases, Alcoholic
The rs626283 Variant in the MBOAT7 Gene is Associated with Insulin Resistance and Fatty Liver in Caucasian Obese Youth.
Lung Neoplasms
The ACSL3-LPIAT1 signaling drives prostaglandin synthesis in non-small cell lung cancer.
Megalencephaly
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.
Metabolic Syndrome
Metabolic syndrome but not genetic polymorphisms known to induce NAFLD predicts increased total mortality in subjects with NAFLD (OPERA study).
[Secondary causes of fatty liver disease - an update on pathogenesis, diagnosis and treatment strategies].
Microcephaly
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.
Muscle Hypotonia
Expanding the phenotypic spectrum of MBOAT7-related intellectual disability.
Neoplasms
MBOAT7-driven phosphatidylinositol remodeling promotes the progression of clear cell renal carcinoma.
The ACSL3-LPIAT1 signaling drives prostaglandin synthesis in non-small cell lung cancer.
Non-alcoholic Fatty Liver Disease
A Novel Phosphoinositide-3-kinase Adapter Protein 1 Gene Missense Mutation in Familial Cirrhosis.
Association Between a Polymorphism in MBOAT7 and Chronic Kidney Disease in Patients With Biopsy-confirmed Nonalcoholic Fatty Liver Disease.
Association between MBOAT7 rs641738 polymorphism and non-alcoholic fatty liver in overweight or obese children.
Association of MBOAT7 gene variant with plasma ALT levels in children: the PANIC study.
Combined effects of the PNPLA3 rs738409, TM6SF2 rs58542926, and MBOAT7 rs641738 variants on NAFLD severity: a multicenter biopsy-based study.
Contribution of a genetic risk score to clinical prediction of hepatic steatosis in obese children and adolescents.
Could inherited predisposition drive non-obese fatty liver disease? Results from German tertiary referral centers.
Distinctive features of hepatocellular carcinoma in non-alcoholic fatty liver disease.
Epidemiology and risk-stratification of NAFLD-associated HCC.
Evaluation of Polygenic Determinants of Non-Alcoholic Fatty Liver Disease (NAFLD) By a Candidate Genes Resequencing Strategy.
Genetic determinants of hepatic steatosis and serum cytokeratin-18 fragment levels in Taiwanese children.
Genetic pathways in nonalcoholic fatty liver disease: Insights from systems biology.
Genetics of Nonalcoholic Fatty Liver Disease: a 2018 Update.
Lack of evidence supporting a role of TMC4-rs641738 missense variant-MBOAT7- intergenic downstream variant-in the Susceptibility to Nonalcoholic Fatty Liver Disease.
Loss of hepatic Mboat7 leads to liver fibrosis.
LPIAT1/MBOAT7 contains a catalytic dyad transferring polyunsaturated fatty acids to lysophosphatidylinositol.
MBOAT7 is anchored to endomembranes by six transmembrane domains.
Meta-analysis of the association between MBOAT7 rs641738, TM6SF2 rs58542926 and nonalcoholic fatty liver disease susceptibility.
Metabolic syndrome but not genetic polymorphisms known to induce NAFLD predicts increased total mortality in subjects with NAFLD (OPERA study).
NAFLD in children: new genes, new diagnostic modalities and new drugs.
Nonalcoholic Fatty Liver Disease (NAFLD), But not Its Susceptibility Gene Variants, Influences the Decrease of Kidney Function in Overweight/Obese Children.
Nonalcoholic fatty liver disease or metabolic dysfunction-associated fatty liver disease diagnoses and cardiovascular diseases: From epidemiology to drug approaches.
Novel Insights into the Genetic Landscape of Nonalcoholic Fatty Liver Disease.
Obesity-linked suppression of membrane-bound O-acyltransferase 7 (MBOAT7) drives non-alcoholic fatty liver disease.
PNPLA3 p.I148M variant is associated with greater reduction of liver fat content after bariatric surgery.
Predictors for incidence and remission of nonalcoholic fatty liver disease in obese children and adolescents.
rs641738C>T near MBOAT7 is associated with liver fat, ALT, and fibrosis in NAFLD: a meta-analysis.
The MBOAT7 variant rs641738 alters hepatic phosphatidylinositols and increases severity of non-alcoholic fatty liver disease in humans.
The MBOAT7-TMC4 Variant rs641738 Increases Risk of Nonalcoholic Fatty Liver Disease in Individuals of European Descent.
The Membrane-bound O-Acyltransferase7 rs641738 Variant in Pediatric Nonalcoholic Fatty Liver Disease.
The rs626283 Variant in the MBOAT7 Gene is Associated with Insulin Resistance and Fatty Liver in Caucasian Obese Youth.
TM6SF2 and MBOAT7 Gene Variants in Liver Fibrosis and Cirrhosis.
Update on NAFLD genetics: from new variants to the clinic.
Obesity
Association between MBOAT7 rs641738 polymorphism and non-alcoholic fatty liver in overweight or obese children.
Epidemiology and risk-stratification of NAFLD-associated HCC.
Genetic and metabolic predictors of hepatic fat content in a cohort of Italian children with obesity.
Overweight
Association between MBOAT7 rs641738 polymorphism and non-alcoholic fatty liver in overweight or obese children.
Pediatric Obesity
The Membrane-bound O-Acyltransferase7 rs641738 Variant in Pediatric Nonalcoholic Fatty Liver Disease.
Renal Insufficiency, Chronic
Association Between a Polymorphism in MBOAT7 and Chronic Kidney Disease in Patients With Biopsy-confirmed Nonalcoholic Fatty Liver Disease.
Seizures
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.
Expanding the phenotypic spectrum of MBOAT7-related intellectual disability.
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.
Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability.
Stomach Neoplasms
Evidence for PTGER4, PSCA, and MBOAT7 as risk genes for gastric cancer on the genome and transcriptome level.
Venous Thromboembolism
Nonalcoholic fatty liver disease or metabolic dysfunction-associated fatty liver disease diagnoses and cardiovascular diseases: From epidemiology to drug approaches.
Virus Diseases
Hepatocellular Carcinoma Risk Stratification by Genetic Profiling in Patients with Cirrhosis.