Research Topics
Genomes and GenesSpecies | Patrizia TarugiSummaryAffiliation: University of Modena and Reggio Emilia Country: Italy Publications
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Publications
Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrumPatrizia Tarugi
Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena, Italy
Adv Clin Chem 54:81-107. 2011..The aim of this review is to discuss the biochemistry, genetics, and clinical spectrum of HBL and to provide a clinical and laboratory diagnostic algorithm...- Molecular diagnosis of hypobetalipoproteinemia: an ENID reviewPatrizia Tarugi
Department of Biomedical Sciences, University of Modena e Reggio Emilia, Via Campi 287, I 41100 Modena, Italy
Atherosclerosis 195:e19-27. 2007..Inactivation of this enzyme is associated with an increased LDL uptake and hypobetalipoproteinemia. HBL carriers of PCSK9 mutations do not develop fatty liver disease... - Mutations in MTP gene in abeta- and hypobeta-lipoproteinemiaEnza Di Leo
Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, I 41100 Modena, Italy
Atherosclerosis 180:311-8. 2005..Since this proband was also homozygous for varepsilon2 allele of apolipoprotein E (apo E), it is likely that his hypobetalipoproteinemia derives from a combined effect of a mild MTP deficiency and homozygosity for apo E2 isoform... 
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemiaLucia Magnolo
Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy
Gene 512:28-34. 2013..The diagnosis of ABL and CMRD should be considered in children born from consanguineous parents, presenting chronic diarrhea associated with hypobetalipoproteinemia...- Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemiaClaudio Priore Oliva
Department of Biomedical Sciences, University of Modena and Reggio Emilia, Italy
Arterioscler Thromb Vasc Biol 25:411-7. 2005.... - Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutationsTatiana Fancello
Dipartimento di Scienze Biomediche, Universita di Modena e Reggio Emilia, Modena, Italy
Neurogenetics 10:229-39. 2009..Moreover, the effects of the missense mutations (p.Y634C, p.S636F, p.L648H, and p.V780G) affecting the sterol-sensing domain (SSD) were evaluated by docking simulation between the atomic coordinates of SSD model and cholesterol... - Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein BSandra Lancellotti
Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, I 41100 Modena, Italy
Biochim Biophys Acta 1688:61-7. 2004..46). Sporadic cases of FHBL with an apparently recessive transmission may be caused by "de novo" mutations of apo B gene... - ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)Dealba Gheduzzi
Dept Biomedical Sciences, University of Modena and Reggio Emilia, Modena, Italy
Hum Mutat 24:438-9. 2004.... - Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemiaEnza Di Leo
Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, I 41100 Modena, Italy
Mol Genet Metab 96:66-72. 2009..This secretion defect is the major cause of severe fatty liver observed in carriers of these mutations... - APOA5 and triglyceride metabolism, lesson from human APOA5 deficiencySebastiano Calandra
Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena, Italy
Curr Opin Lipidol 17:122-7. 2006..In this review we compare the phenotype and lipoprotein abnormalities of some patients who were found to carry mutations in the APOA5 gene predicted to result in apolipoprotein A-V deficiency... - A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterolTommaso Fasano
Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, I 41100 Modena, Italy
Arterioscler Thromb Vasc Biol 27:677-81. 2007..The aim of this study was to assess whether loss of function mutations of PCSK9 were a cause of familial hypobetalipoproteinemia and a determinant of low-plasma low-density lipoprotein cholesterol in whites... - Beta-thalassemia is a modifying factor of the clinical expression of familial hypercholesterolemiaSebastiano Calandra
Department of Biomedical Sciences, University of Modena and Reggio Emilia, 4100 Modena, Italy
Semin Vasc Med 4:271-8. 2004..In view of its LDL-C-lowering effect, beta-thalassemia trait may protect FH heterozygotes against premature coronary atherosclerosis... 
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease riskSebastiano Calandra
Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena, Italy
J Lipid Res 52:1885-926. 2011....- Pediatric gallstone disease in familial hypobetalipoproteinemiaSandra Lancellotti
Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, 41100 Modena, Italy
J Hepatol 43:188-91. 2005..FHBL should be considered as a possible predisposing factor for cholesterol gallstones in children (190)... - Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemiaDavide Noto
Department of Internal Medicine and Medical Specialties, University of Palermo, Via del Vespro 141, I 90127 Palermo, Italy
Arterioscler Thromb Vasc Biol 32:805-9. 2012.... - Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3Livia Pisciotta
Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, Genoa, Italy
Circ Cardiovasc Genet 5:42-50. 2012..Recently, 4 related individuals with primary hypolipidemia were found to be compound heterozygotes for ANGPTL3 loss-of-function mutations... - Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblastsPatrizia Tarugi
Dipartimento di Scienze Biomediche, Universita di Modena e Reggio Emilia, Modena, Italy
J Lipid Res 43:1908-19. 2002..In some NPC patients, therefore, the comparison between cDNA and genomic DNA may reveal an unexpected expression of some mutant alleles of NPC1 gene... - Altered mRNA splicing in lipoprotein disordersSebastiano Calandra
Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena, Italy
Curr Opin Lipidol 22:93-9. 2011..Examples are derived from familial hypercholesterolemia, familial HDL deficiency/Tangier disease and familial hypobetalipoproteinemia... - Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 geneSerena Altilia
Department of Biomedical Sciences, University of Modena and Reggio Emilia, Rome, Italy
J Lipid Res 44:254-64. 2003..In NIH3T3, no splicing of MTgene pre-mRNA was observed, whereas WTgene pre-mRNA was spliced correctly. These results stress the complexity of ABCA1 pre-mRNA splicing in the presence of splice site mutations... - Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disordersLivia Pisciotta
Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, I-16132 Genoa, Italy
Atherosclerosis 172:309-20. 2004.... - 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 diseaseEnza Di Leo
Dipartimento di Scienze Biomediche, Universita di Modena and Reggio Emilia, Modeno, Italy
Hum Mutat 24:440. 2004..This is the first example of a splicing defect due to a mutation in the lariat BPS in an intron of NPC1 found in NPC patients... - Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemiaEnza Di Leo
J Med Genet 44:219-24. 2007..All these truncated apoBs were not secreted as constituents of plasma lipoproteins. CONCLUSION: These findings demonstrate the pathogenic effect of rare splice-site mutations of the APOB gene found in FHBL... - Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemiaLivia Pisciotta
Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, I 16132 Genoa, Italy
Atherosclerosis 186:433-40. 2006..These observations indicate that rare missense mutations of PCSK9 may worsen the clinical phenotype of patients carrying LDLR mutations... - Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genesLivia Pisciotta
Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, I 16132 Genoa, Italy
Atherosclerosis 182:153-9. 2005..Despite the unfavourable lipoprotein profile, the proband had only mild clinical signs of atherosclerosis. This unexpected finding is probably due to the intensive lipid lowering treatment the patient has been on over the last decade...