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2017
Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol–diabetes connection? A systematic review of literature
Cefalu', A. B., Barbagallo, C. M., Averna, M., Noto, D., Tarugi, P., Averna, M. R., Arca, M. & Noto, D., 2017, In: Acta Diabetologica. 54, p. 111-122 12 p.Research output: Contribution to journal › Article › peer-review
10 Citations (Scopus) -
Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia
Cefalu', A. B., Averna, M., Spina, R., Minicocci, I., D'Erasmo, L., Polito, L., Di Costanzo, A., Di Costanzo, A., Di Leo, E., Cantisani, V., Tarugi, P., Arca, M. & Noto, D., 2017, In: Journal of Clinical Lipidology. 11, p. 1234-1242 9 p.Research output: Contribution to journal › Article › peer-review
10 Citations (Scopus) -
Efficacy of Lomitapide in the Treatment of Familial Homozygous Hypercholesterolemia: Results of a Real-World Clinical Experience in Italy
Averna, M., Cefalu', A. B., Giammanco, A., Suppressa, P., Calabrò, P., Sbrana, F., Vigna, G. B., Sirtori, C., D’Erasmo, L., Sirtori, C., Pavanello, C., Medde, P., Sirtori, C., Bigazzi, F., Pintus, P., Sampietro, T., Sileo, F., Natale, F., Sabbà, C., Calabresi, L. & 4 others, , 2017, In: Advances in Therapy. 34, p. 1200-1210 11 p.Research output: Contribution to journal › Article › peer-review
24 Citations (Scopus) -
Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)
Averna, M., Barbagallo, C. M., Cefalu', A. B., Averna, M., Spina, R. & Noto, D., 2017, In: Atherosclerosis Supplements. 29, p. 11-16 6 p.Research output: Contribution to journal › Article › peer-review
25 Citations (Scopus) -
Genotypic and phenotypic characterization of patients with autosomal dominant hypercholesterolemia in sicily
Valenti, V., Giammanco, A., Scrimali, C., Cefalu', A. B., Ingrassia, V., Altieri, G. I., Barbagallo, C. M., Spina, R., Averna, M., Misiano, G., Ganci, A., Noto, D. & Fayer, F., 2017, p. e235-. 1 p.Research output: Contribution to conference › Other › peer-review
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Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing
Scrimali, C., Spina, R., Averna, M., Misiano, G., Altieri, G. I., Barbagallo, C. M., Palesano, O., Cocorullo, G., Cefalu', A. B., Giammanco, A., Valenti, V., Ingrassia, V., Valenti, V., Spina, R., Cefalù, A. B., Ingrassia, V., Scrimali, C., Misiano, G., Averna, M. R., Ganci, A. & 2 others, , 2017, In: Journal of Clinical Lipidology. 11, p. 272-281 10 p.Research output: Contribution to journal › Article › peer-review
13 Citations (Scopus) -
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study
Cefalu', A. B., Averna, M., Spina, R. & Noto, D., 2017, In: Atherosclerosis Supplements. 29, p. 17-24 8 p.Research output: Contribution to journal › Article › peer-review
30 Citations (Scopus) -
2019
PCSK9-D374Y mediated LDL-R degradation can be functionally inhibited by EGF-A and truncated EGF-A peptides: An in vitro study
Spina, R., Misiano, G., Averna, M., Altieri, G. I., Cefalu', A. B., Ingrassia, V., Scrimali, C., Brucato, F., Barbagallo, C. M., Noto, D. & Fayer, F., 2019, In: ATHEROSCLEROSIS. 292, p. 209-214 6 p.Research output: Contribution to journal › Article › peer-review
2 Citations (Scopus) -
2020
Automated untargeted stable isotope assisted lipidomics of liver cells on high glucose shows alteration of sphingolipid kinetics
Cefalu', A. B., Scrimali, C., Spina, R. & Di Gaudio, F., 2020, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. 1865, p. 158656- 8 p.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
Effectiveness and safety of lomitapide in a patient with familial chylomicronemia syndrome
Averna, M., Cabibi, D., Barbagallo, C. M., Cefalu', A. B., Spina, R. & Noto, D., 2020, In: ENDOCRINE. 7 p.Research output: Contribution to journal › Article › peer-review
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Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features
Cefalu', A. B., Averna, M., Suppressa, P., Trenti, C., Calabrò, P., Rabacchi, C., Sbrana, F., Casula, M., D'Erasmo, L., D'Addato, S., Calandra, S., Pavanello, C., Ripoli, C., Ibba, A., Pasta, A., Negri, E. A., Buonuomo, P. S., Pisciotta, L., Zenti, M. G., Sampietro, T. & 10 others, , 2020, In: ATHEROSCLEROSIS. 312, p. 72-78 7 p.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
NPC1L1 and ABCG5/8 induction explain synergistic fecal cholesterol excretion in ob/ob mice co-treated with PPAR-α and LXR agonists
Averna, M., Cefalu', A. B., Srivastava, N. S. & Srivastava, R. A. K., 2020, In: Molecular and Cellular Biochemistry. 473, p. 247-262 16 p.Research output: Contribution to journal › Article › peer-review
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Rapid degradation of ABCA1 protein following cAMP withdrawal and treatment with PKA inhibitor suggests ABCA1 is a short-lived protein primarily regulated at the transcriptional level
Cefalu', A. B., Averna, M. & Srivastava, R. A. K., 2020, In: Journal of Diabetes and Metabolic Disorders. 19, p. 363-371 9 p.Research output: Contribution to journal › Article › peer-review
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Therapeutic options for homozygous familial hypercholesterolemia: the role of Lomitapide
Cefalu', A. B., Giammanco, A., Averna, M. & Noto, D., 2020, In: Current Medicinal Chemistry. 27, p. 3773-3783 11 p.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus)