Zobrazeno 1 - 10 of 117 pro vyhledávání: '"R. Averna"'
1
Akademický článek
DeepSRE: Identification of sterol responsive elements and nuclear transcription factors Y proximity in human DNA by Convolutional Neural Network analysis.
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
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4
Comparison of two polygenic risk scores to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects
Autor: Angelo B. Cefalù, Rossella Spina, Davide Noto, Claudio Rabacchi, Antonina Giammanco, Maria Luisa Simone, Federica Brucato, Chiara Scrimali, Maria Grazia Gueli-Alletti, Carlo M. Barbagallo, Patrizia Tarugi, Maurizio R. Averna
Publikováno v: Journal of clinical lipidology. 16(4)
Primary Hypobetalipoproteinemias (HBL) are a group of dominant and recessive monogenic genetic disorders caused by mutations in APOB, PCSK9, ANGPTL3, MTTP, Sar1b genes and characterized by plasma levels of total cholesterol (TC), low density lipoprot
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c7926d6b541f2c8128b76fff87f27e
https://pubmed.ncbi.nlm.nih.gov/35589500
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5
Akademický článek
Lipase maturation factor 1 is required for endothelial lipase activity[S]
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
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6
Akademický článek
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia
Autor: Mehri Najafi Sani, Mozhgan Sabbaghian, Fatemeh Mahjoob, Angelo B. Cefalù, Maurizio R. Averna, Nima Rezaei
Publikováno v: Annals of Hepatology, Vol 10, Iss 2, Pp 221-226 (2011)
Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from e
Externí odkaz: https://doaj.org/article/b69ac4a00b324f64b203dbf54dab8a6e
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7
Akademický článek
Study of the Correlations among Some Parameters of the Oxidative Status, Gelatinases, and Their Inhibitors in a Group of Subjects with Metabolic Syndrome
Autor: E. Hopps, R. Lo Presti, M. Montana, B. Canino, M. R. Averna, G. Caimi
Publikováno v: Mediators of Inflammation, Vol 2014 (2014)
Our aim was to examine some parameters of oxidative status, gelatinases, and their inhibitors and to evaluate their interrelationships in subjects with metabolic syndrome (MS). We enrolled 65 MS subjects, subdivided according to the presence or not o
Externí odkaz: https://doaj.org/article/c9ec4302c0804ea591a281b7cbc8ada9
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8
Akademický článek
Apolipoprotein B-38.9 does not associate with apo[a] and forms two distinct HDL density particle populations that are larger than HDL.
Autor: W A Groenewegen, M R Averna, J Pulai, E S Krul, G Schonfeld
Publikováno v: Journal of Lipid Research, Vol 35, Iss 6, Pp 1012-1025 (1994)
We have identified a new truncated apolipoprotein B (apoB) that provides insights into the interaction of apoB with apo[a] and with lipids. Both total and LDL-cholesterol were below the 5th percentile in the proband; Lp[a] was 28 mg/dl. Four other af
Externí odkaz: https://doaj.org/article/e9445b3cdcf444109b103e8b6bf7915c
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9
Akademický článek
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10
Akademický článek
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