List of works - Patrizia Tarugi

A 54-Year-Old Diabetic Man with Low Serum Cholesterol

scientific article published on 27 April 2012

A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia

scientific article published on 30 May 2013

A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a Caucasian kindred

scientific article published on 15 January 2009

A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol

scientific article

A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia

scientific article published in September 2006

A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5)

scientific article published in September 2000

APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency

scientific article

Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia

scientific article published on 8 December 2006

Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene

scientific article

Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia

scientific article

Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study

scientific article published in November 2003

Altered mRNA splicing in lipoprotein disorders

scientific article published on April 2011

Beta-thalassemia is a modifying factor of the clinical expression of familial hypercholesterolemia

scientific article

Biochemistry of lipids and lipoproteins

scientific article published in June 1990

Changes in apolipoprotein A-I mRNA level in the liver of rats with experimental nephrotic syndrome

scientific article published in October 1986

Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.

scientific article

Chemical and morphological changes of rat plasma lipoproteins after a prolonged administration of diets containing olive oil and cholesterol

scientific article published on December 1977

Cholesterol synthesis in freshly isolated human leukocytes

scientific article

Cholesterol synthesis in isolated rat hepatocytes. In vitro effect os sterols and bile acids

scientific article

Cholesterol synthesis in isolated rat hepatocytes: effect of homologous and heterologous serum lipoproteins

scientific article published on August 1979

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis

scientific article published on 20 September 2013

Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes

scientific article

European Lipoprotein Club: Report of the 24th ELC Annual Conference, Tutzing, 10-13 September 2001.

scientific article

Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.

scientific article published in February 2004

Familial heterozygous hypobetalipoproteinemia, extrahepatic primary malignancy, and hepatocellular carcinoma

scientific article published in 1998

Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene

scientific article

Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein B

scientific article published in October 1996

Flow-mediated dilation, carotid wall thickness and HDL function in subjects with hyperalphalipoproteinemia.

scientific article published in March 2014

Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.

scientific article

Genetics and molecular biology: proprotein convertase subtilisin/kexin type 9 and LDL receptor – an intriguing story

scientific article published in April 2008

Heavy metals and experimental atherosclerosis Effect of lead intoxication on rabbit plasma lipoproteins

scientific article published on 01 November 1982

Hipobetalipoproteinemia familiar: caracterización clínica de una nueva mutación en el gen de la apolipoproteína B

scientific article published in June 2009

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia

scientific article published on 21 November 2008

Improvement in the high-performance liquid chromatography malondialdehyde level determination in normal human plasma ⬇️

scientific article published on August 25, 1998

Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia

scientific article

Isoforms of rat apolipoprotein A-I isolated from the lipoproteins of hepatic golgi apparatus and plasma

scientific article published in August 1985

Isolation of a cDNA clone for chick intestinal apolipoprotein AI (Apo-AI) and its use for detecting apo-AI mRNA expression in several chick tissues.

scientific article

Lipid and Apoprotein Composition of HDL in Partial or Complete CETP Deficiency

article

Low-density lipoprotein (LDL) receptor/transferrin fusion protein: in vivo production and functional evaluation as a potential therapeutic tool for lowering plasma LDL cholesterol.

scientific article

Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage

scientific article

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk

scientific article

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations

scientific article published on 28 February 2009

Molecular diagnosis of hypobetalipoproteinemia: an ENID review

scientific article

Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B

scientific article

Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia

scientific article

Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia

scientific article

Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia

scientific article

Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia

scientific article

PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia.

scientific article published on 17 September 2009

Pediatric gallstone disease in familial hypobetalipoproteinemia.

scientific article published in July 2005

Plasma and urine lipoproteins during the development of nephrotic syndrome induced in the rat by adriamycin

scientific article published on December 1983

Plasma non-cholesterol sterols in primary hypobetalipoproteinemia

scientific article published in June 2011

Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia

scientific article

Pseudoxanthoma elasticum and familial hypercholesterolemia: a deleterious combination of cardiovascular risk factors

scientific article published on 24 November 2009

Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency

scientific article

Separation of the isoprotein forms of apoprotein A-I of rat, rabbit and human HDL by combined isoelectrofocusing and SDS-polyacrylamide gel electrophoresis

scientific article published in February 1984

Sequential expression during postnatal development of specific markers of junctional and free sarcoplasmic reticulum in chicken pectoralis muscle

scientific article published in September 1992

The C-terminal domain of apolipoprotein A-I is involved in ABCA1-driven phospholipid and cholesterol efflux.

scientific article published on December 2002

The complete sequence of chick apolipoprotein AI mRNA and its expression in the developing chick

scientific article published on January 1987

The protective effect on Cu2+- and AAPH-mediated oxidation of human low-density lipoproteins depends on glycosaminoglycan structure

scientific article published in October 1999

The wide spectrum of steatohepatitis: a report of four cases and a review of the literature.

scientific article published in October 2004

Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations

scientific article published on 19 May 2008

List of works by Patrizia Tarugi

A 54-Year-Old Diabetic Man with Low Serum Cholesterol

A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia

A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a Caucasian kindred

A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol

A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia

A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5)

APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency

Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia

Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene

Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia

Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study

Altered mRNA splicing in lipoprotein disorders

Beta-thalassemia is a modifying factor of the clinical expression of familial hypercholesterolemia

Biochemistry of lipids and lipoproteins

Changes in apolipoprotein A-I mRNA level in the liver of rats with experimental nephrotic syndrome

Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.

Chemical and morphological changes of rat plasma lipoproteins after a prolonged administration of diets containing olive oil and cholesterol

Cholesterol synthesis in freshly isolated human leukocytes

Cholesterol synthesis in isolated rat hepatocytes. In vitro effect os sterols and bile acids

Cholesterol synthesis in isolated rat hepatocytes: effect of homologous and heterologous serum lipoproteins

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis

Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes

European Lipoprotein Club: Report of the 24th ELC Annual Conference, Tutzing, 10-13 September 2001.

Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.

Familial heterozygous hypobetalipoproteinemia, extrahepatic primary malignancy, and hepatocellular carcinoma

Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene

Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein B

Flow-mediated dilation, carotid wall thickness and HDL function in subjects with hyperalphalipoproteinemia.

Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.

Genetics and molecular biology: proprotein convertase subtilisin/kexin type 9 and LDL receptor – an intriguing story

Heavy metals and experimental atherosclerosis Effect of lead intoxication on rabbit plasma lipoproteins

Hipobetalipoproteinemia familiar: caracterización clínica de una nueva mutación en el gen de la apolipoproteína B

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia

Improvement in the high-performance liquid chromatography malondialdehyde level determination in normal human plasma ⬇️

Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia

Isoforms of rat apolipoprotein A-I isolated from the lipoproteins of hepatic golgi apparatus and plasma

Isolation of a cDNA clone for chick intestinal apolipoprotein AI (Apo-AI) and its use for detecting apo-AI mRNA expression in several chick tissues.

Lipid and Apoprotein Composition of HDL in Partial or Complete CETP Deficiency

Low-density lipoprotein (LDL) receptor/transferrin fusion protein: in vivo production and functional evaluation as a potential therapeutic tool for lowering plasma LDL cholesterol.

Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations

Molecular diagnosis of hypobetalipoproteinemia: an ENID review

Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B

Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia

Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia

Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia

Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia

PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia.

Pediatric gallstone disease in familial hypobetalipoproteinemia.

Plasma and urine lipoproteins during the development of nephrotic syndrome induced in the rat by adriamycin

Plasma non-cholesterol sterols in primary hypobetalipoproteinemia

Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia

Pseudoxanthoma elasticum and familial hypercholesterolemia: a deleterious combination of cardiovascular risk factors

Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency

Separation of the isoprotein forms of apoprotein A-I of rat, rabbit and human HDL by combined isoelectrofocusing and SDS-polyacrylamide gel electrophoresis

Sequential expression during postnatal development of specific markers of junctional and free sarcoplasmic reticulum in chicken pectoralis muscle

The C-terminal domain of apolipoprotein A-I is involved in ABCA1-driven phospholipid and cholesterol efflux.

The complete sequence of chick apolipoprotein AI mRNA and its expression in the developing chick

The protective effect on Cu2+- and AAPH-mediated oxidation of human low-density lipoproteins depends on glycosaminoglycan structure

The wide spectrum of steatohepatitis: a report of four cases and a review of the literature.

Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations