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

le Tarugi, Patrizia, Bertolini, Stefano, Calandra, Sebastiano
Foilsithe in J Biomed Res (2019)

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

le Calandra, Sebastiano, Tarugi, Patrizia, Speedy, Helen E., Dean, Andrew F., Bertolini, Stefano, Shoulders, Carol C.
Foilsithe 2011

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

le Fazio, Sergio, Minnier, Jessica, Shapiro, Michael D., Tsimikas, Sotirios, Tarugi, Patrizia, Averna, Maurizio R., Arca, Marcello, Tavori, Hagai
Foilsithe in J Clin Endocrinol Metab (2017)

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

le Leo, Enza Di, Magnolo, Lucia, Lancellotti, Sandra, Crocè, Lory, Visintin, Luca, Tiribelli, Claudio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia
Foilsithe 2007

A Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function

le Walsh, Meghan T., Iqbal, Jahangir, Josekutty, Joby, Soh, James, Di Leo, Enza, Özaydin, Eda, Gündüz, Mehmet, Tarugi, Patrizia, Hussain, M. Mahmood
Foilsithe in Circ Cardiovasc Genet (2015)

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

le Conca, Paola, Pileggi, Silvana, Simonelli, Sara, Boer, Emanuela, Boscutti, Giuliano, Magnolo, Lucia, Tarugi, Patrizia, Penco, Silvana, Franceschini, Guido, Calabresi, Laura, Gomaraschi, Monica
Foilsithe 2012

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

le Cefalù, Angelo B, Pirruccello, James P, Noto, Davide, Gabriel, Stacey, Valenti, Vincenza, Gupta, Namrata, Spina, Rossella, Tarugi, Patrizia, Kathiresan, Sekar, Averna, Maurizio R
Foilsithe 2013

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

le Iqbal, Jahangir, Walsh, Meghan T., Hammad, Samar M., Cuchel, Marina, Tarugi, Patrizia, Hegele, Robert A., Davidson, Nicholas O., Rader, Daniel J., Klein, Richard L., Hussain, M. Mahmood
Foilsithe in J Biol Chem (2015)

Novel LMF1 Nonsense Mutation in a Patient with Severe Hypertriglyceridemia

le Cefalù, Angelo B., Noto, Davide, Arpi, Maria Luisa, Yin, Fen, Spina, Rossella, Hilden, Hannele, Barbagallo, Carlo M., Carroccio, Antonio, Tarugi, Patrizia, Squatrito, Sebastiano, Vigneri, Riccardo, Taskinen, Marja-Riitta, Péterfy, Miklós, Averna, Maurizio R.
Foilsithe 2009

Nonsynonymous Mutations within APOB in Human Familial Hypobetalipoproteinemia: EVIDENCE FOR FEEDBACK INHIBITION OF LIPOGENESIS AND POSTENDOPLASMIC RETICULUM DEGRADATION OF APOLIPOP...

le Zhong, Shumei, Magnolo, Antonia Lucia, Sundaram, Meenakshi, Zhou, Hu, Yao, Erik F., Di Leo, Enza, Loria, Paola, Wang, Shuai, Bamji-Mirza, Michelle, Wang, Lisheng, McKnight, C. Jamie, Figeys, Daniel, Wang, Yuwei, Tarugi, Patrizia, Yao, Zemin
Foilsithe 2010

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

le Minicocci, Ilenia, Santini, Sara, Cantisani, Vito, Stitziel, Nathan, Kathiresan, Sekar, Arroyo, Juan Antonio, Martí, Gertrudis, Pisciotta, Livia, Noto, Davide, Cefalù, Angelo B., Maranghi, Marianna, Labbadia, Giancarlo, Pigna, Giovanni, Pannozzo, Fabio, Ceci, Fabrizio, Ciociola, Ester, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Averna, Maurizio, Arca, Marcello
Foilsithe 2013

Exome Sequencing in Suspected Monogenic Dyslipidemias

le Stitziel, Nathan O., Peloso, Gina M., Abifadel, Marianne, Cefalu, Angelo B., Fouchier, Sigrid, Motazacker, M. Mahdi, Tada, Hayato, Larach, Daniel B., Awan, Zuhier, Haller, Jorge F., Pullinger, Clive R., Varret, Mathilde, Rabès, Jean-Pierre, Noto, Davide, Tarugi, Patrizia, Kawashiri, Masa-aki, Nohara, Atsushi, Yamagishi, Masakazu, Risman, Marjorie, Deo, Rahul, Ruel, Isabelle, Shendure, Jay, Nickerson, Deborah A., Wilson, James G., Rich, Stephen S., Gupta, Namrata, Farlow, Deborah N., Neale, Benjamin M., Daly, Mark J., Kane, John P., Freeman, Mason W., Genest, Jacques, Rader, Daniel J., Mabuchi, Hiroshi, Kastelein, John J.P., Hovingh, G. Kees, Averna, Maurizio R., Gabriel, Stacey, Boileau, Catherine, Kathiresan, Sekar
Foilsithe in Circ Cardiovasc Genet (2015)