P. Tarugi

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

S. Bertolini, C. Priore Oliva, P. Tarugi, 2006, Atherosclerosis.

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia.

P. Tarugi, M. Najah, E. Di Leo, 2009, Clinica chimica acta; international journal of clinical chemistry.

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

P. Tarugi, S. Calandra, M. Najah, 2013, Gene.

Influence of chondroitin sulfate charge density, sulfate group position, and molecular mass on Cu2+-mediated oxidation of human low-density lipoproteins: effect of normal human plasma-derived chondroitin sulfate.

N. Volpi, P. Tarugi, 1999, Journal of biochemistry.

Angiopoietin-like protein 3 (ANGPTL3) deficiency and familial combined hypolipidemia

S. Bertolini, P. Tarugi, S. Calandra, 2019, Journal of biomedical research.

Characterization of Three Kindreds With Familial Combined Hypolipidemia Caused by Loss-of-Function Mutations of ANGPTL3

G. Franceschini, D. Ardigò, E. Favari, 2012, Circulation. Cardiovascular genetics.

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

S. Kathiresan, N. Stitziel, G. Labbadia, 2013, Journal of Lipid Research.

Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.

M. Taskinen, C. Barbagallo, D. Noto, 2009, The Journal of clinical endocrinology and metabolism.

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

R. Fresa, D. Noto, A. Cantafora, 2006, Atherosclerosis.

Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B.

S. Bertolini, F. Balli, P. Tarugi, 2004, Biochimica et biophysica acta.

PCSK9 Dominant Negative Mutant Results in Increased LDL Catabolic Rate and Familial Hypobetalipoproteinemia

M. Krempf, R. Guérois, C. Langhi, 2009, Arteriosclerosis, thrombosis, and vascular biology.

ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)

D. Quaglino, D. Gheduzzi, P. Tarugi, 2004, Human mutation.

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

S. Volpato, E. Favari, F. Zimetti, 2014, Nutrition, metabolism, and cardiovascular diseases : NMCD.

Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.

S. Bertolini, P. Tarugi, S. Calandra, 2017, Journal of clinical lipidology.

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

A. Lonardo, A. Bagni, P. Tarugi, 2004, European journal of gastroenterology & hepatology.

Familial combined hypolipidemia due to mutations in the ANGPTL3 gene

S. Bertolini, P. Tarugi, S. Calandra, 2013 .

Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined Hypolipidemia

S. Kathiresan, D. Noto, P. Yue, 2012, Arteriosclerosis, thrombosis, and vascular biology.

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

G. Franceschini, E. Boer, G. Boscutti, 2012, Journal of clinical lipidology.

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

P. Nilsson, G. Franceschini, C. Sirtori, 2009, Atherosclerosis.

Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

G. Francis, R. Hegele, M. Reijman, 2022, The Lancet.

Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia.

D. Noto, L. Calabresi, P. Tarugi, 2009, Atherosclerosis.

Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN).

D. Noto, M. Arca, A. Catapano, 2017, Atherosclerosis. Supplements.

Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia.

D. Noto, Z. Yao, P. Tarugi, 2016, Biochimica et biophysica acta.

Analysis of Apolipoprotein A-I Synthesized in Vitro from Chick Intestinal mRNA

S. Ferrari, R. Battini, P. Tarugi, 1986 .

A Novel APOB Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia

S. Gabriel, S. Kathiresan, N. Gupta, 2013, Arteriosclerosis, thrombosis, and vascular biology.

Thematic Review Series: Genetics of Human Lipid Diseases Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classifi cation and disease risk

C. Shoulders, H. Speedy, A. Dean, 2011 .

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

N. Battistini, P. Tarugi, S. Calandra, 1979, Metabolism: clinical and experimental.

Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.

D. Noto, I. Minicocci, A. Di Costanzo, 2017, Journal of clinical lipidology.

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

P. Tarugi, E. Di Leo, L. Magnolo, 2013, Gene.

Plasma non-cholesterol sterols in primary hypobetalipoproteinemia.

D. Noto, G. Schonfeld, M. Minà, 2011, Atherosclerosis.

[Familial hypobetalipoproteinemia: clinical characterization of a new mutation in the APOB gene].

P. Iglesias, J. Díez, P. Tarugi, 2009, Medicina clinica.

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

G. Vivoli, P. Tarugi, S. Calandra, 1982, Atherosclerosis.

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

S. Ferrari, P. Tarugi, S. Calandra, 1987, Gene.

Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation.

N. Uslu, H. Demir, F. Gürakan, 2010, The Turkish journal of pediatrics.

Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.

S. Bertolini, C. Gabelli, P. Tarugi, 2005, Atherosclerosis.

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

P. Tarugi, S. Calandra, 2008, Current opinion in lipidology.

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

A. Lonardo, A. Bagni, P. Tarugi, 1996, Gastroenterology.

Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features.

M. Arca, P. Calabrò, M. Bucci, 2020, Atherosclerosis.

A 54-year-old diabetic man with low serum cholesterol.

F. Şahin, B. Barutcuoglu, P. Tarugi, 2012, Clinical chemistry.

Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene.

S. Bertolini, S. Palmisano, P. Tarugi, 2016, Journal of clinical lipidology.

Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study.

G. Biolo, E. Bonora, J. Werba, 2018, Atherosclerosis.

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

S. Ferrari, B. Bagni, L. Falqui, 2004, Human gene therapy.

Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.

T. Sampietro, S. Bertolini, P. Tarugi, 2016, Journal of clinical lipidology.

Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene.

I. Cortella, A. Lonardo, L. Previato, 2001, Journal of lipid research.

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.

R. Fresa, D. Noto, S. Bertolini, 2015, Atherosclerosis.

Apolipoprotein B-100 production and cholesteryl ester content in the liver of developing chick.

P. Tarugi, S. Calandra, G. Ballarini, 1994, Journal of lipid research.

Comparison of two polygenic risk score to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects.

C. Barbagallo, D. Noto, M. L. Simone, 2022, Journal of clinical lipidology.

Running title: Stitziel et al., Exome Sequencing in Monogenic Dyslipidemias

S. Gabriel, M. Daly, D. Nickerson, 2015 .

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

R. Fresa, S. Bertolini, D. Quaglino, 2010, Atherosclerosis.

Guidance for the diagnosis and treatment of hypolipidemia disorders.

M. Brin, D. Rader, R. Hegele, 2022, Journal of clinical lipidology.

The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations.

İ. Okur, P. Tarugi, E. Di Leo, 2015, Journal of clinical lipidology.

Heterozygous familial hypobetalipoproteinemia associated with fatty liver.

A. Lonardo, P. Tarugi, 1997, The American journal of gastroenterology.

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

M. Bourbon, M. Pirisi, P. Tarugi, 2008, Clinical Genetics.

Pediatric gallstone disease in familial hypobetalipoproteinemia.

A. Lonardo, M. Zaffanello, P. Tarugi, 2005, Journal of hepatology.

Purification of an induced bacterial agglutinin in the freshwater snail Planorbarius corneus (L.) (Gastropoda, Pulmonata)

E. Ottaviani, P. Tarugi, 1989 .

Inherited Apolipoprotein A-V Deficiency in Severe Hypertriglyceridemia

A. Cantafora, A. Catapano, S. Bertolini, 2004, Arteriosclerosis, thrombosis, and vascular biology.

DYSLIPIDEMIA IN RATS WITH HYPOTHYROIDISM

N. Battistini, P. Tarugi, S. Calandra, 1981 .

SYNTHESIS ANS SECRETION OF LIPIDS BY THE LIVER OF HYPOTHYROID RATS

N. Battistini, P. Tarugi, D. Vezzani, 1981 .

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

C. Shoulders, H. Speedy, A. Dean, 2011, Journal of Lipid Research.

Altered mRNA splicing in lipoprotein disorders

S. Bertolini, P. Tarugi, S. Calandra, 2011, Current opinion in lipidology.

Impact of rare variants in autosomal dominant hypercholesterolemia causing genes

S. Bertolini, P. Tarugi, S. Calandra, 2017, Current opinion in lipidology.

Mutation screening of the Otop1 gene in familial benign positional paroxysmal vertigo

D. Monzani, E. Genovese, A. Percesepe, 2016 .

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.

M. Arca, K. Garlaschelli, A. Catapano, 2017, Atherosclerosis. Supplements.

Exome Sequencing in Suspected Monogenic Dyslipidemias

Rahul C. Deo, S. Gabriel, M. Daly, 2015, Circulation. Cardiovascular genetics.

Familial Low-Cholesterol Syndromes or Hypobetalipoproteinemias

D. Noto, P. Tarugi, M. Averna, 2014 .

Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum.

P. Tarugi, M. Averna, 2011, Advances in clinical chemistry.

Secretion of apoB- and apoA-I-containing lipoproteins by chick kidney.

E. Ottaviani, P. Tarugi, S. Calandra, 1998, Journal of lipid research.

Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects.

M. Hussain, M. Walsh, P. Tarugi, 2016, Biochimica et biophysica acta.

Microsomal Triglyceride Transfer Protein Transfers and Determines Plasma Concentrations of Ceramide and Sphingomyelin but Not Glycosylceramide*

D. Rader, R. Hegele, N. Davidson, 2015, The Journal of Biological Chemistry.

Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal &bgr;-Barrel in Microsomal Triglyceride Transfer Protein Function

M. Hussain, J. Iqbal, M. Walsh, 2015, Circulation. Cardiovascular genetics.

APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency.

S. Bertolini, C. Priore Oliva, P. Tarugi, 2006, Current opinion in lipidology.

Isolation and characterization of an agglutinin present in the haemolymph of the freshwater snail Planorbarius corneus (L.) (Gastropoda, pulmonata)

E. Ottaviani, P. Tarugi, 1986 .

Threshold Effects of Circulating Angiopoietin‐Like 3 Levels on Plasma Lipoproteins

J. Minnier, M. Arca, S. Tsimikas, 2017, The Journal of clinical endocrinology and metabolism.

Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol–diabetes connection? A systematic review of literature

C. Barbagallo, D. Noto, M. Arca, 2017, Acta Diabetologica.

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

I. Cortella, N. Vitturi, S. Bertolini, 2009, Molecular genetics and metabolism.

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

C. Tiribelli, S. Bertolini, P. Tarugi, 2006, Journal of Medical Genetics.

A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre‐mRNA splicing in Niemann‐Pick type C disease

A. Federico, C. Battisti, P. Tarugi, 2004, Human mutation.

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

A. D’Amico, G. Uziel, C. Rosano, 2009, neurogenetics.

Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene Published, JLR Papers in Press, November 4, 2002. DOI 10.1194/jlr.M200248-JLR200

C. Vergani, F. Bernini, A. Cantafora, 2003, Journal of Lipid Research.

Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.

A. Federico, B. Bembi, C. Battisti, 2002, Journal of lipid research.

CLINICAL CHARACTERISTICS AND PLASMALIPIDS IN SUBJECTS WITH FAMILIALCOMBINED HYPOLIPIDEMIA:A POOLED ANALYSIS

S. Kathiresan, N. Stitziel, G. Labbadia, 2013 .

HDL‐mediated reduction of cholesterol content inhibits the proliferation of prostate cancer cells induced by LDL: Role of ABCA1 and proteasome inhibition

M. Ruscica, P. Parini, P. Tarugi, 2022, BioFactors.

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

E. Mannarino, A. Cantafora, S. Bertolini, 2004, Atherosclerosis.

Familial Heterozygous Hypobetalipoproteinemia, Extrahepatic Primary Malignancy, and Hepatocellular Carcinoma

A. Lonardo, A. Bagni, P. Tarugi, 1998, Digestive Diseases and Sciences.

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).

A. Lonardo, S. Bertolini, P. Tarugi, 2000, Journal of hepatology.

A Novel Loss of Function Mutation of PCSK9 Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol

D. Noto, P. Tarugi, O. Guardamagna, 2007, Arteriosclerosis, thrombosis, and vascular biology.

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.

S. Ferrari, P. Tarugi, S. Calandra, 1986, Gene.

Abnormal splicing of ABCA 1 pre-mRNA in Tangier disease due to a IVS 2 5 G C mutation in ABCA 1 gene

C. Vergani, F. Bernini, A. Cantafora, 2003 .

Molecular diagnosis of hypobetalipoproteinemia: an ENID review.

D. Noto, S. Bertolini, P. Tarugi, 2007, Atherosclerosis.

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

G. Franceschini, E. Favari, F. Bernini, 2002, Biochemical and biophysical research communications.

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

G. Franceschini, C. Cortese, A. Cantafora, 2003, Atherosclerosis.

Nonsynonymous Mutations within APOB in Human Familial Hypobetalipoproteinemia

D. Figeys, Hulping Zhou, Z. Yao, 2009, The Journal of Biological Chemistry.

Synthesis and secretion of B-100 and A-I apolipoproteins in response to the changes of intracellular cholesteryl ester content in chick liver.

P. Tarugi, S. Calandra, C. Duvigneau, 1996, Journal of lipid research.

Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

M. Arca, A. Catapano, S. Bertolini, 2023, Journal of the American Heart Association.

EFFECT OFLEAD INTOXICATION ON RABBIT PLASMA LIPOPROTEINS

G. Vivoli, P. Tarugi, S. Calandra, 1982 .

Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis.

G. Olivecrona, N. Plana, D. Ibarretxe, 2016, Journal of Clinical Lipidology.

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

N. Volpi, P. Tarugi, 1998, Journal of chromatography. B, Biomedical sciences and applications.

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

A. Cantafora, G. Lupattelli, S. Bertolini, 2005, Atherosclerosis.

Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum.

P. Tarugi, M. Averna, 2011, Advances in clinical chemistry.

In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia.

S. Bertolini, M. L. Simone, A. Pietrangelo, 2019, Journal of clinical lipidology.

Novel mutations of SAR1B gene in four children with chylomicron retention disease.

S. Bertolini, Z. Kuloğlu, A. Kansu, 2019, Journal of clinical lipidology.

Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up

C. Kırsaçlıoğlu, Eda Özaydın, P. Tarugi, 2016, Indian Journal of Gastroenterology.

Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B.

N. Mungan, I. Bernardis, L. Artuso, 2016, Clinica chimica acta; international journal of clinical chemistry.

Novel Mutation in the Apob Gene (Apo B-15.56): A Case Report

P. Tarugi, A. Gaddi, A. Cicero, 2010 .

Genetics of familial hypobetalipoproteinemia

P. Tarugi, M. Averna, 2007 .

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

S. Volpato, E. Favari, F. Zimetti, 2014, Nutrition, metabolism, and cardiovascular diseases : NMCD.

Nonsynonymous Mutations within APOB in Human Familial Hypobetalipoproteinemia

D. Figeys, Hulping Zhou, Z. Yao, 2009, The Journal of Biological Chemistry.

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

M. Bourbon, P. Tarugi, S. Calandra, 2008, Clinical genetics.

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

N. Volpi, P. Tarugi, 1999, Biochimie.

CLINICAL AND GENETIC FEATURES OF THREE PATIENTS WITH FAMILIAL CHYLOMICRONEMIA DUE TO MUTATIONS IN GPIHBP1 GENE

P. Tarugi, C. Rabacchi, MD Sergio D'Addato, 2016 .

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

A. Malandrini, A. Federico, M. Dotti, 2005, Neurological Sciences.

Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined Hypolipidemia

S. Kathiresan, D. Noto, P. Yue, 2012, Arteriosclerosis, thrombosis, and vascular biology.

A Novel Loss of Function Mutation of PCSK9 Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol

D. Noto, P. Tarugi, O. Guardamagna, 2007, Arteriosclerosis, Thrombosis and Vascular Biology.

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

N. Antonio-Villa, A. Vargas-Vázquez, J. Jozwiak, 2023, The Lancet.