Zobrazeno 1 - 10
of 185
pro vyhledávání: '"Davide Noto"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101065- (2024)
Objective: Phenylketonuria (PKU) is a metabolic disorder necessitating lifelong management to prevent severe neurological impairments. This paper synthesises clinical practices from Italian specialist centres to delineate a unified approach for admin
Externí odkaz:
https://doaj.org/article/ac06090c3ff041458e4eadafae1b51d7
Autor:
Francesca Urbano, Marco Bugliani, Agnese Filippello, Alessandra Scamporrino, Stefania Di Mauro, Antonino Di Pino, Roberto Scicali, Davide Noto, Agata Maria Rabuazzo, Maurizio Averna, Piero Marchetti, Francesco Purrello, Salvatore Piro
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-3 (2020)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/6ddef50eba9e4077a00f89aad5b80718
Autor:
Davide Noto, Antonina Giammanco, Rossella Spina, Francesca Fayer, Angelo B Cefalù, Maurizio R Averna
Publikováno v:
PLoS ONE, Vol 16, Iss 3, p e0247402 (2021)
SREBP1 and 2, are cholesterol sensors able to modulate cholesterol-related gene expression responses. SREBPs binding sites are characterized by the presence of multiple target sequences as SRE, NFY and SP1, that can be arranged differently in differe
Externí odkaz:
https://doaj.org/article/0a96cec23d9d44018fde3423c9fe4cd5
Autor:
Osnat Ben-Zeev, Maryam Hosseini, Ching-Mei Lai, Nicole Ehrhardt, Howard Wong, Angelo B. Cefalù, Davide Noto, Maurizio R. Averna, Mark H. Doolittle, Miklós Péterfy
Publikováno v:
Journal of Lipid Research, Vol 60, Iss 9, Pp 1641- (2019)
Externí odkaz:
https://doaj.org/article/2acf1e5e8ab44dceac2273da6c81234c
Autor:
Philippe Moulin, Robert Dufour, Maurizio Averna, Marcello Arca, Angelo B. Cefalù, Davide Noto, Laura D’Erasmo, Alessia Di Costanzo, Christophe Marçais, Luis Antonio Alvarez-Sala Walther, Maciej Banach, Jan Borén, Robert Cramb, Ioanna Gouni-Berthold, Elizabeth Hughes, Colin Johnson, Xavier Pintó, Željko Reiner, Jeanine Roeters van Lennep, Handrean Soran, Claudia Stefanutti, Erik Stroes, Eric Bruckert
Publikováno v:
Data in Brief, Vol 21, Iss , Pp 1334-1336 (2018)
Data presented in this article are supplementary material to our article entitled “Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS Score” (Moulin et al
Externí odkaz:
https://doaj.org/article/e3151c823e6a4206b9afc2f7a8d0b1f8
Autor:
Antonina Giammanco, Davide Noto, Carlo Maria Barbagallo, Emilio Nardi, Rosalia Caldarella, Marcello Ciaccio, Maurizio Rocco Averna, Angelo Baldassare Cefalù
Publikováno v:
Life, Vol 11, Iss 6, p 581 (2021)
Hyperalphalipoproteinemia (HALP) is a lipid disorder characterized by elevated plasma high-density lipoprotein cholesterol (HDL-C) levels above the 90th percentile of the distribution of HDL-C values in the general population. Secondary non-genetic f
Externí odkaz:
https://doaj.org/article/a4b631beb1c949909c454e595e608fb0
Autor:
Carlo Maria Barbagallo, Angelo Baldassare Cefalù, Antonina Giammanco, Davide Noto, Rosalia Caldarella, Marcello Ciaccio, Maurizio Rocco Averna, Emilio Nardi
Publikováno v:
Life, Vol 11, Iss 4, p 315 (2021)
Chronic kidney disease (CKD) is one of the most important risk factors for cardiovascular disease (CVD). Despite the kidney having no direct implications for lipoproteins metabolism, advanced CKD dyslipidemia is usually present in patients with CKD,
Externí odkaz:
https://doaj.org/article/9b275c74f527417c9607f0f307ed120e
Autor:
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
Publikováno v:
Journal of Lipid Research, Vol 54, Iss 12, Pp 3481-3490 (2013)
Angiopoietin-like 3 (ANGPTL3) regulates lipoprotein metabolism by modulating extracellular lipases. Loss-of function mutations in ANGPTL3 gene cause familial combined hypolipidemia (FHBL2). The mode of inheritance and hepatic and vascular consequence
Externí odkaz:
https://doaj.org/article/5b85b008f28e45d7a8865bda58dd9395
Autor:
Osnat Ben-Zeev, Maryam Hosseini, Ching-Mei Lai, Nicole Ehrhardt, Howard Wong, Angelo B. Cefalù, Davide Noto, Maurizio R. Averna, Mark H. Doolittle, Miklós Péterfy
Publikováno v:
Journal of Lipid Research, Vol 52, Iss 6, Pp 1162-1169 (2011)
Lipase maturation factor 1 (Lmf1) is an endoplasmic reticulum (ER) membrane protein involved in the posttranslational folding and/or assembly of lipoprotein lipase (LPL) and hepatic lipase (HL) into active enzymes. Mutations in Lmf1 are associated wi
Externí odkaz:
https://doaj.org/article/eef7f18d8f9047c1908f115d19b52643
Autor:
Davide Noto, Rossella Spina, Antonina Giammanco, Carlo M. Barbagallo, Antonina Ganci, Chiara Scrimali, Federica Brucato, Gabriella Misiano, Marcello Ciaccio, Rosalia Caldarella, Angelo B. Cefalù, Maurizio Averna
Publikováno v:
Atherosclerosis. 347:63-67
Background and aims: Familial hypercholesterolemia (FH) is the most relevant genetic cause of early cardiovascular disease (CVD). FH is suspected when low density lipoprotein cholesterol (LDL-C) levels exceed the 95th percentile of the population dis