Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Enza Di Leo"'
Autor:
Patrizia Tarugi, Giorgia Ballarini, Bruno Bembi, Carla Battisti, Silvia Palmeri, Francesca Panzani, Enza Di Leo, Cristina Martini, Antonio Federico, Sebastiano Calandra
Publikováno v:
Journal of Lipid Research, Vol 43, Iss 11, Pp 1908-1919 (2002)
We analyzed Niemann-Pick type C disease 1 (NP44406) gene in 12 patients with Niemann-Pick type C disease by sequencing both cDNA obtained from fibroblasts and genomic DNA. All the patients were compound heterozygotes. We found 15 mutations, eight of
Externí odkaz:
https://doaj.org/article/c851977574dc48e288e06f70434e4577
Autor:
Zarife Kuloğlu, Arzu Meltem Demir, Claudio Rabacchi, Gülin Hizal, Aydan Kansu, Stefano Bertolini, Enza Di Leo, Maria Luisa Simone, Patrizia Tarugi, Sebastiano Calandra, Arzu Ensari
Background Intestinal lipid malabsorption, resulting from an impaired formation or secretion of chylomicrons and associated with severe hypobetalipoproteinemia (HBL), may be due to biallelic mutations in APOB (homozygous FHBL type-1), MTTP (abetalipo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1954594f34db25feb5bc2a37db0381d
https://hdl.handle.net/11380/1195305
https://hdl.handle.net/11380/1195305
Autor:
Enza Di Leo, Davide Bocchi, Patrizia Tarugi, Stefano Bertolini, Maria Luisa Simone, Claudio Rabacchi, Antonello Pietrangelo, Livia Pisciotta, Sebastiano Calandra, Sergio D'Addato
Background: Familial hypobetalipoproteinemia type 1 (FHBL-1) is a codominant disorder characterized by greatly reduced plasma levels of total cholesterol, low-density lipoprotein cholesterol, and apolipoprotein B. Rare exonic pathogenic variants of A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83320c195cfbdf22f4abdebeaf572382
https://hdl.handle.net/11380/1195317
https://hdl.handle.net/11380/1195317
Autor:
Alessia Di Costanzo, Angelo B. Cefalù, Laura D'Erasmo, Patrizia Tarugi, Maurizio Averna, Enza Di Leo, Vito Cantisani, Davide Noto, Rossella Spina, Luca Polito, Ilenia Minicocci, Marcello Arca
Background The most frequent monogenic causes of low plasma cholesterol are familial hypobetalipoproteinemia (FHBL1) because of truncating mutations in apolipoprotein B coding gene (APOB) and familial combined hypolipidemia (FHBL2) due to loss-of-fun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f65118e5cadfdcef2c8180b96c16d093
https://hdl.handle.net/11380/1150532
https://hdl.handle.net/11380/1150532
Autor:
Enza Di Leo, Maurizio Averna, Davide Noto, Lucia Magnolo, Angelo B. Cefalù, Stefano Bertolini, Luigi Cattin, Patrizia Tarugi, Sebastiano Calandra
Publikováno v:
Atherosclerosis. 253
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::042f029844f838799ef25564c71d4f82
https://pubmed.ncbi.nlm.nih.gov/17570373
https://pubmed.ncbi.nlm.nih.gov/17570373
Publikováno v:
Arteriosclerosis, Thrombosis, and Vascular Biology. 36
We describe two new hypolipidemic patients with very low plasma triglyceride and apolipoprotein B (apoB) levels and lipid malabsorption with plasma lipid profiles similar to abetalipoproteinemia (ABL) patients. In these patients, we identified two pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8ecdfa3ac3062bdf0b41b89d9458b663
https://doi.org/10.1161/atvb.36.suppl_1.192
https://doi.org/10.1161/atvb.36.suppl_1.192
We describe two new hypolipidemic patients with very low plasma triglyceride and apolipoprotein B (apoB) levels with plasma lipid profiles similar to abetalipoproteinemia (ABL) patients. In these patients, we identified two previously uncharacterized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7d0707cb3d35deb545c6361fe934271
https://hdl.handle.net/11380/1126211
https://hdl.handle.net/11380/1126211
Autor:
Daniel Figeys, Yuwei Wang, Hu Zhou, Enza Di Leo, Patrizia Tarugi, Shumei Zhong, Lisheng Wang, Shuai Wang, Zemin Yao, Erik F. Yao, C. Jamie McKnight, Antonia Lucia Magnolo, Paola Loria, Michelle Bamji-Mirza, Meenakshi Sundaram
Publikováno v:
Journal of Biological Chemistry. 285:6453-6464
Five nontruncating missense APOB mutations, namely A31P, G275S, L324M, G912D, and G945S, were identified in heterozygous carriers of familial hypobetalipoproteinemia (FHBL) in the Italian population. To test that the FHBL phenotype was a result of im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ebf0fb5289f07ba930737ea07614e8ec
https://doi.org/10.1074/jbc.m109.060467
https://doi.org/10.1074/jbc.m109.060467
Autor:
Elisa Pinotti, Mahjoub Bahri, Jelassi Awatef, Lucia Magnolo, Mohamed Najah, Enza Di Leo, Jgurim Imene, Moncef Fekih, Patrizia Tarugi, Mohamed Naceur Slimane, Sihem Barsaoui, Ines Brini
Publikováno v:
Clinica Chimica Acta. 401:51-56
Background Abetalipoproteinemia (ABL) and Homozygous Familial Hypobetalipoproteinemia (Ho-FHBL) are rare monogenic diseases characterised by very low plasma levels of cholesterol and triglyceride and the absence or a great reduction of apolipoprotein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d234eb9c7207dc7cd48502e3455a621
https://doi.org/10.1016/j.cca.2008.11.012
https://doi.org/10.1016/j.cca.2008.11.012
Autor:
Enza Di Leo, Patrizia Tarugi, Mehmet Gündüz, M. Mahmood Hussain, Eda Özaydin, Meghan T. Walsh, James Soh, Jahangir Iqbal, Joby Josekutty
Background— The use of microsomal triglyceride transfer protein (MTP) inhibitors is limited to severe hyperlipidemias because of associated hepatosteatosis and gastrointestinal adverse effects. Comprehensive knowledge about the structure–function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f08347c13320f4865f95f26d48fa899
https://europepmc.org/articles/PMC4618089/
https://europepmc.org/articles/PMC4618089/