Patrizia Tarugi

Summary

Affiliation: University of Modena and Reggio Emilia
Country: Italy

Publications

  1. ncbi request reprint Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum
    Patrizia Tarugi
    Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena, Italy
    Adv Clin Chem 54:81-107. 2011
  2. ncbi request reprint Molecular diagnosis of hypobetalipoproteinemia: an ENID review
    Patrizia Tarugi
    Department of Biomedical Sciences, University of Modena e Reggio Emilia, Via Campi 287, I 41100 Modena, Italy
    Atherosclerosis 195:e19-27. 2007
  3. doi request reprint Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia
    Lucia Magnolo
    Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy
    Gene 512:28-34. 2013
  4. ncbi request reprint Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia
    Enza Di Leo
    Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, I 41100 Modena, Italy
    Atherosclerosis 180:311-8. 2005
  5. ncbi request reprint Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia
    Claudio Priore Oliva
    Department of Biomedical Sciences, University of Modena and Reggio Emilia, Italy
    Arterioscler Thromb Vasc Biol 25:411-7. 2005
  6. doi request reprint Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations
    Tatiana Fancello
    Dipartimento di Scienze Biomediche, Universita di Modena e Reggio Emilia, Modena, Italy
    Neurogenetics 10:229-39. 2009
  7. ncbi request reprint Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B
    Sandra 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
  8. doi request reprint Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia
    Claudio Rabacchi
    Department of Life Sciences, University of Modena and Reggio Emilia, Italy
    Atherosclerosis 241:79-86. 2015
  9. ncbi request reprint 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
  10. doi request reprint Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia
    Lucia Magnolo
    Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy
    Biochim Biophys Acta 1861:371-9. 2016

Collaborators

Detail Information

Publications30

  1. ncbi request reprint Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum
    Patrizia 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...
  2. ncbi request reprint Molecular diagnosis of hypobetalipoproteinemia: an ENID review
    Patrizia 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...
  3. doi request reprint Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia
    Lucia 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...
  4. ncbi request reprint Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia
    Enza 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...
  5. ncbi request reprint Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia
    Claudio Priore Oliva
    Department of Biomedical Sciences, University of Modena and Reggio Emilia, Italy
    Arterioscler Thromb Vasc Biol 25:411-7. 2005
    ....
  6. doi request reprint Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations
    Tatiana 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...
  7. ncbi request reprint Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B
    Sandra 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...
  8. doi request reprint Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia
    Claudio Rabacchi
    Department of Life Sciences, University of Modena and Reggio Emilia, Italy
    Atherosclerosis 241:79-86. 2015
    ..Mutations in the LPL gene are the most frequent cause of monogenic HTG (familial chylomicronemia) with recessive transmission...
  9. ncbi request reprint 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
    ....
  10. doi request reprint Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia
    Lucia Magnolo
    Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy
    Biochim Biophys Acta 1861:371-9. 2016
    ..Taken together, these results indicated that the defective secretion of the Thr26_Tyr27del mutant was associated with increased intracellular degradation of apoB through the proteasome-dependent pathway. ..
  11. ncbi request reprint APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency
    Sebastiano 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...
  12. doi request reprint Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia
    Enza 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...
  13. ncbi request reprint A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol
    Tommaso 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...
  14. ncbi request reprint Beta-thalassemia is a modifying factor of the clinical expression of familial hypercholesterolemia
    Sebastiano 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...
  15. pmc Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk
    Sebastiano Calandra
    Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena, Italy
    J Lipid Res 52:1885-926. 2011
    ....
  16. ncbi request reprint Pediatric gallstone disease in familial hypobetalipoproteinemia
    Sandra 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)...
  17. doi request reprint The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations
    Enza Di Leo
    Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy
    J Clin Lipidol 9:400-5. 2015
    ..In homozygous familial hypobetalipoproteinemia, the capacity of truncated apoBs to form chylomicrons is the major factor, which affects the severity of the clinical manifestations. ..
  18. doi request reprint Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene
    Claudio Rabacchi
    Department of Life Sciences, University of Modena and Reggio Emilia, Italy
    J Clin Lipidol 10:915-921.e4. 2016
    ....
  19. doi request reprint Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations
    Claudio Rabacchi
    Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy
    J Clin Lipidol 10:944-952.e1. 2016
    ..In 95% of patients, homozygous familial hypercholesterolemia is due to mutations in low-density lipoprotein receptor (LDLR) gene, which abolish (receptor-negative) or greatly reduce (receptor-defective) LDLR function...
  20. pmc Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function
    Meghan T Walsh
    From the School of Graduate Studies, Molecular and Cell Biology Program M T W, J J, J S, Department of Cell Biology M T W, J I, J J, J S, M M H, Department of Pediatrics M M H, State University of New York Downstate Medical Center, Brooklyn, NY Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy E D L, P T Infancy Services, Ankara Children s Health and Diseases Hematology Oncology Training and Research Hospital, Ankara, Turkey E O Department of Nutrition and Metabolism, Ankara Children s Health and Diseases Hematology Oncology Training and Research Hospital, Ankara, Turkey M G and Department of Research, VA New York Harbor Healthcare System, Brooklyn, NY M M H
    Circ Cardiovasc Genet 8:677-87. 2015
    ..Our aim was to identify and characterize mutations in the N-terminal domain to understand its function...
  21. doi request reprint Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3
    Livia 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...
  22. doi request reprint Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia
    Davide 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
    ....
  23. doi request reprint Altered mRNA splicing in lipoprotein disorders
    Sebastiano 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...
  24. ncbi request reprint Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts
    Patrizia 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...
  25. ncbi request reprint Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene
    Serena 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...
  26. ncbi request reprint Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia
    Livia 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...
  27. ncbi request reprint 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
    Enza 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...
  28. pmc Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia
    Enza Di Leo
    J Med Genet 44:219-24. 2007
    ..In a group of 59 patients with FHBL genotyped for APOB gene mutations, we found three novel splice-site mutations: c.904+4A-->G in intron 8, c.3843-2A-->G in intron 24 and c.4217-1G-->T in intron 25...
  29. ncbi request reprint Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders
    Livia Pisciotta
    Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, I 16132 Genoa, Italy
    Atherosclerosis 172:309-20. 2004
    ....
  30. ncbi request reprint Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes
    Livia 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...