Unusual Mild Phenotype Presentation in an Elderly Patient with Homozygous Tangier Disease

Authors: Ornella Guardamagna, Renato Bonardi, Raffaele Buganza, Francesco Martino, Livia Pisciotta, Luisa de Sanctis, Pier Paolo Bassareo

Source: Cardiogenetics, Vol 14, Iss 4, Pp 198-203 (2024)

Subject Terms: hypoalphalipoproteinemia, atherosclerosis, cardiovascular disease, HDL cholesterol, Tangier disease, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://www.mdpi.com/2035-8148/14/4/15; https://doaj.org/toc/2035-8253; https://doaj.org/toc/2035-8148

Access URL: https://doaj.org/article/ae47b1a32f8446fba53e04b25ab414e3

Case report: A single novel calpain 3 gene variant associated with mild myopathy

Authors: Sara Massucco, Paola Fossa, Chiara Fiorillo, Elena Faedo, Chiara Gemelli, Rita Barresi, Michela Ripolone, Serena Patrone, Andrea Gaudio, Paola Mandich, Fabio Gotta, Serena Baratto, Monica Traverso, Livia Pisciotta, Federico Zaottini, Mattia Camera, Elena Scarsi, Marina Grandis

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: calpain, calpainopathy, LGMD, LGMDR1, case report, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1437859/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/49be178eb8364e9aad2b067534cfd3e5

Diagnosis and Screening Strategies for Detection of Familial Hypercholesterolaemia in Children and Adolescents in Italy: A Survey from the LIPIGEN Paediatric Group

Authors: Cristina Pederiva, Federica Galimberti, Manuela Casula, Giuseppe Banderali, Guglielmo Beccuti, Vanessa Bianconi, Giacomo Biasucci, Marta Biolo, Marco Bucci, Paola Sabrina Buonuomo, Paolo Calabrò, Stefano Carugo, Angelo Baldassare Cefalù, Nadia Citroni, Nicholas Cocomello, Sergio D’Addato, Simona Gatti, Simonetta Genovesi, Ornella Guardamagna, Gabriella Iannuzzo, Lorenzo Iughetti, Giuseppe Mandraffino, Lorenzo Maroni, Ilenia Minicocci, Giuliana Mombelli, Tiziana Montalcini, Sara Moriglia, Sandro Muntoni, Fabio Nascimbeni, Angelina Passaro, Fabio Pellegatta, Livia Pisciotta, Elena Sani, Francesco Sbrana, Roberto Scicali, Patrizia Suppressa, José Pablo Werba, Maria Grazia Zenti, Marcello Arca, Maurizio Averna, Sebastiano Calandra, Alberico Luigi Catapano, Patrizia Tarugi, Maria Elena Capra

Source: Children, Vol 12, Iss 3, p 288 (2025)

Subject Terms: familial hypercholesterolemia, paediatric, screening, diagnosis, survey, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9067/12/3/288; https://doaj.org/toc/2227-9067

Access URL: https://doaj.org/article/0f9591d1855a4d40aba447ed142890a1

From Dysbiosis to Hepatic Inflammation: A Narrative Review on the Diet-Microbiota-Liver Axis in Steatotic Liver Disease

Authors: Andrea Pasta, Elena Formisano, Francesco Calabrese, Elisa Marabotto, Manuele Furnari, Giorgia Bodini, Maria Corina Plaz Torres, Livia Pisciotta, Edoardo Giovanni Giannini, Patrizia Zentilin

Source: Microorganisms, Vol 13, Iss 2, p 241 (2025)

Subject Terms: gut microbiota, gut-liver axis, dysbiosis, steatotic liver disease, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2076-2607/13/2/241; https://doaj.org/toc/2076-2607

Access URL: https://doaj.org/article/0beb489212474fdd80ca07d73d214f73

Cyclic fasting bolsters cholesterol biosynthesis inhibitors’ anticancer activity

Authors: Amr Khalifa, Ana Guijarro, Silvia Ravera, Nadia Bertola, Maria Pia Adorni, Bianca Papotti, Lizzia Raffaghello, Roberto Benelli, Pamela Becherini, Asmaa Namatalla, Daniela Verzola, Daniele Reverberi, Fiammetta Monacelli, Michele Cea, Livia Pisciotta, Franco Bernini, Irene Caffa, Alessio Nencioni

Source: Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/09f7f094d29d492b991f7ee272e9b6d8

Author Correction: Cyclic fasting bolsters cholesterol biosynthesis inhibitors’ anticancer activity

Authors: Amr Khalifa, Ana Guijarro, Silvia Ravera, Nadia Bertola, Maria Pia Adorni, Bianca Papotti, Lizzia Raffaghello, Roberto Benelli, Pamela Becherini, Asmaa Namatalla, Daniela Verzola, Daniele Reverberi, Fiammetta Monacelli, Michele Cea, Livia Pisciotta, Franco Bernini, Irene Caffa, Alessio Nencioni

Source: Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/cd8c959e696f4fb4bdb263dcc766062e

Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey

Authors: Laura D’Erasmo, Antonio Gallo, Angelo Baldassare Cefalù, Alessia Di Costanzo, Samir Saheb, Antonina Giammanco, Maurizio Averna, Alessio Buonaiuto, Gabriella Iannuzzo, Giuliana Fortunato, Arturo Puja, Tiziana Montalcini, Chiara Pavanello, Laura Calabresi, Giovanni Battista Vigna, Marco Bucci, Katia Bonomo, Fabio Nota, Tiziana Sampietro, Francesco Sbrana, Patrizia Suppressa, Carlo Sabbà, Fabio Fimiani, Arturo Cesaro, Paolo Calabrò, Silvia Palmisano, Sergio D’Addato, Livia Pisciotta, Stefano Bertolini, Randa Bittar, Olga Kalmykova, Sophie Béliard, Alain Carrié, Marcello Arca, Eric Bruckert

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

Subject Terms: Homozygous hypercholesterolemia, Lipoprotein apheresis, Lomitapide, LDL, Therapeutics, Genetic disease, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/d3d61cde509e4a539ecfd7328d4ab9a4

Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study

Authors: Laura D’Erasmo, Antonina Giammanco, Patrizia Suppressa, Chiara Pavanello, Gabriella Iannuzzo, Alessia Di Costanzo, Daniele Tramontano, Ilenia Minicocci, Simone Bini, Anja Vogt, Kim Stewards, Jeanine Roeters Van Lennep, Stefano Bertolini, Marcello Arca, the Italian and European Working Group on Lomitapide in HoFH, Maurizio Averna, Eric Boersma, Katia Bonomo, Marco Bucci, Laura Calabresi, Paolo Calabrò, Angelo Baldassare Cefalù, Jaimini Cegla, Arturo Cesaro, Sergio D’Addato, Eugene Daphnis, Maria Donata Di Taranto, Avishay Ellis, Fabio Fimiani, Giuliana Fortunato, Marco Gentile, Meral Kayikcioglu, Genovefa Kolovou, Evangelos Liberopoulos, Karin Littmann, Sergio Martínez-Hervás, Tiziana Montalcini, Fabio Nota, Livia Pisciotta, Arturo Puja, Giovanni José Real, Jeanine Roeters van Lennep, Joost Rutten, Carlo Sabbà, Tiziana Sampietro, Francesco Sbrana, Kim Steward, Fulvio Ventura, Battista Vigna, Shahenaz Walji

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: Real-world study, rare disease, autosomal recessive hypercholesterolaemia, LDL-C, lomitapide, long-term, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.937750/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/c310a706a0ae42eda26ba363b9582898

Lipoprotein(a) Modulates Carotid Atherosclerosis in Metabolic Syndrome

Authors: Anna Laura Cremonini, Andrea Pasta, Federico Carbone, Luca Visconti, Matteo Casula, Edoardo Elia, Aldo Bonaventura, Luca Liberale, Maria Bertolotto, Nathan Artom, Silvia Minetti, Paola Contini, Daniela Verzola, Roberto Pontremoli, Francesca Viazzi, Giorgio Luciano Viviani, Stefano Bertolini, Aldo Pende, Fabrizio Montecucco, Livia Pisciotta

Source: Frontiers in Molecular Biosciences, Vol 9 (2022)

Subject Terms: lipoprotein (a), atherosclerosis, metabolic syndrome, cardiovascular disease, ASCVD, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2022.854624/full; https://doaj.org/toc/2296-889X

Access URL: https://doaj.org/article/1b5685523d594be69391fc489b7d0d84

The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group

Authors: Marta Gazzotti, Manuela Casula, Stefano Bertolini, Maria Elena Capra, Elena Olmastroni, Alberico Luigi Catapano, Cristina Pederiva, the LIPIGEN Paediatric Group, Massimiliano Allevi, Marcello Arca, Renata Auricchio, Maurizio Averna, Davide Baldera, Giuseppe Banderali, Andrea Bartuli, Giacomo Biasucci, Claudio Borghi, Patrizia Bruzzi, Raffaele Buganza, Paola Sabrina Buonuomo, Paolo Calabrò, Sebastiano Calandra, Francesca Carubbi, Arturo Cesaro, Francesco Cipollone, Nadia Citroni, Giuseppe Covetti, Annalaura Cremonini, Sergio D’Addato, Maria Del Ben, Maria Donata Di Taranto, Giuliana Fortunato, Roberto Franceschi, Federica Galimberti, Simonetta Genovesi, Antonina Giammanco, Liliana Grigore, Ornella Guardamagna, Arcangelo Iannuzzi, Gabriella Iannuzzo, Lorenzo Iughetti, Lidia Lascala, Fabiana Locatelli, Sara Madaghiele, Giuseppe Mandraffino, Massimo Raffaele Mannarino, Bucci Marco, Lorenzo Maroni, Ilenia Minicocci, Giuliana Mombelli, Sandro Muntoni, Fabio Nascimbeni, Gianfranco Parati, Angelina Passaro, Chiara Pavanello, Fabio Pellegatta, Francesco Massimo Perla, Matteo Pirro, Livia Pisciotta, Arturo Pujia, Francesco Purrello, Elisabetta Rinaldi, Riccardo Sarzani, Roberto Scicali, Patrizia Suppressa, Patrizia Tarugi, Sabrina Verachtert, Giovanni Battista Vigna, Josè Pablo Werba, Alberto Zambon, Sabina Zambon, Maria Grazia Zenti

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: familial hypercholesterolemia, pediatric cohort, genetic diagnosis, pathology register, clinical diagnosis, cardiovascular genetics, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.912510/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/89bbc97e24a34c4996186aca15b69866

Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single‐center observational study

Authors: Andrea Pasta, Paolo Borro, Anna Laura Cremonini, Elena Formisano, Giulia Tozzi, Stefano Cecchi, Raffaele Fresa, Sara Labanca, Afscin Djahandideh, Samir Giuseppe Sukkar, Antonino Picciotto, Livia Pisciotta

Source: Pharmacology Research & Perspectives, Vol 9, Iss 5, Pp n/a-n/a (2021)

Subject Terms: controlled attenuation parameter, hepatic steatosis, LIPA gene, NAFLD, rs1051338, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://doaj.org/toc/2052-1707

Access URL: https://doaj.org/article/8dbd368162384f4ebf5e792b799f1d1a

Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs

Authors: Martina Servetti, Livia Pisciotta, Elisa Tassano, Maria Cerminara, Lino Nobili, Silvia Boeri, Giulia Rosti, Margherita Lerone, Maria Teresa Divizia, Patrizia Ronchetto, Aldamaria Puliti

Source: Frontiers in Genetics, Vol 12 (2021)

Subject Terms: variants of uncertain significance, long non-coding genes, antisense gene, oligogenic disease, array-CGH, additive effect, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.732002/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/8f1a6c9e149a419fa9a29b5043a7dff9

Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients

Authors: Ramona Cordani, Michela Stagnaro, Livia Pisciotta, Francesco Danilo Tiziano, Maria Grazia Calevo, Lino Nobili, I.B.AHC Consortium, Elisa De Grandis

Source: Frontiers in Neurology, Vol 12 (2021)

Subject Terms: alternating hemiplegia of childhood, ATP1A3, movement disorder, genotype, phenotype, flunarizine, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.658451/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/a03e0057f8434c2c93956342d0d78c13

Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances

Authors: Maria Cerminara, Giovanni Spirito, Livia Pisciotta, Margherita Squillario, Martina Servetti, Maria Teresa Divizia, Margherita Lerone, Bianca Berloco, Silvia Boeri, Lino Nobili, Diego Vozzi, Remo Sanges, Stefano Gustincich, Aldamaria Puliti

Source: Frontiers in Genetics, Vol 12 (2021)

Subject Terms: autism spectrum disorder, attention deficit disorder and hyperactivity, whole exome sequencing, sleep disturbance, oligenic disease, ORVAL, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.625564/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/e530a7b83da74ffa9c864d0519556301

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency

Authors: Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino, Stefano Bertolini

Source: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)

Subject Terms: Lysosomal acid lipase deficiency, Ezetimibe, Substrate reduction therapy, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0768-8; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/f4db1b1e368b47dea599d297c14f45b9

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

Authors: Ilenia Minicocci, Sara Santini, Vito Cantisani, Nathan Stitziel, Sekar Kathiresan, Juan Antonio Arroyo, Gertrudis Martí, Livia Pisciotta, Davide Noto, Angelo B. Cefalù, Marianna Maranghi, Giancarlo Labbadia, Giovanni Pigna, Fabio Pannozzo, Fabrizio Ceci, Ester Ciociola, Stefano Bertolini, Sebastiano Calandra, Patrizia Tarugi, Maurizio Averna, Marcello Arca

Source: Journal of Lipid Research, Vol 54, Iss 12, Pp 3481-3490 (2013)

Subject Terms: ANGPTL3 mutations, angiopoietin-like 3, cardiovascular disease, fatty liver, diabetes mellitus, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520356996; https://doaj.org/toc/0022-2275

Access URL: https://doaj.org/article/5b85b008f28e45d7a8865bda58dd9395

Lipoprotein Glomerulopathy Associated with a Mutation in Apolipoprotein E

Authors: Riccardo Magistroni, Marco Bertolotti, Luciana Furci, Rita Adriana Fano, Marco Leonelli, Livia Pisciotta, Elisa Pellegrini, Laura Calabresi, Stefano Bertolini, Sebastiano Calandra

Source: Clinical Medicine Insights: Case Reports, Vol 2013, Iss 6, Pp 189-196 (2013)

Subject Terms: Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.la-press.com/lipoprotein-glomerulopathy-associated-with-a-mutation-in-apolipoprotei-article-a3989; https://doaj.org/toc/1179-5476

Access URL: https://doaj.org/article/c8d76ff1cf044c4bb46796e24d28398a

Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency

Authors: Tommaso Fasano, Letizia Bocchi, Livia Pisciotta, Stefano Bertolini, Sebastiano Calandra

Source: Journal of Lipid Research, Vol 46, Iss 4, Pp 817-822 (2005)

Subject Terms: high density lipoprotein, ATP binding cassette transporter A1, heteroduplexes, sequence variants, primary hypoalphalipoproteinemia, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520340177; https://doaj.org/toc/0022-2275

Access URL: https://doaj.org/article/3cda3cae15194ee4b3fa77a68d0d15ef

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

Authors: Serena Altilia, Livia Pisciotta, Rita Garuti, Patrizia Tarugi, Alfredo Cantafora, Laura Calabresi, Jacopo Tagliabue, Sergio Maccari, Franco Bernini, Ilaria Zanotti, Carlo Vergani, Stefano Bertolini, Sebastiano Calandra

Source: Journal of Lipid Research, Vol 44, Iss 2, Pp 254-264 (2003)

Subject Terms: ABCA1 minigenes, in vitro splicing, donor splice site mutation, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520312128; https://doaj.org/toc/0022-2275

Access URL: https://doaj.org/article/eb6e958ad20e4b4cb77ab5e79e99a6b5

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