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• 2017

  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, Arca, M., Bucci, M., Bonomo, K. & Noto, D., 2017, In: Advances in Therapy. 34, p. 1200-1210 11 p.

  Research output: Contribution to journal › Article › peer-review

  • BMS201038
  • Hyperlipoproteinemia Type II
  • Italy
  • oxidized low density lipoprotein
  • Cholesterol
  23 Citations (Scopus)
• 2020

  Therapeutic options for homozygous familial hypercholesterolemia: the role of Lomitapide

  Cefalu', A. B., Averna, M., Giammanco, A. & Noto, D., 2020, In: Current Medicinal Chemistry. 27, p. 3773-3783 11 p.

  Research output: Contribution to journal › Article › peer-review

  • BMS201038
  • microsomal triglyceride transfer protein
  • Hyperlipoproteinemia Type II
  • Liver
  • Apolipoproteins B
  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

• Automated untargeted stable isotope assisted lipidomics of liver cells on high glucose shows alteration of sphingolipid kinetics

  Spina, R., Cefalu', A. B., Scrimali, C. & 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)
• 2017

  Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia

  Cefalu', A. B., Spina, R., Averna, M., Minicocci, I., D'Erasmo, L., Polito, L., 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

  • Familial Hypobetalipoproteinemia
  • Apolipoproteins B
  • Cholesterol
  • Mutation
  • LDL Cholesterol
  9 Citations (Scopus)
• 2020

  Effectiveness and safety of lomitapide in a patient with familial chylomicronemia syndrome

  Cefalu', A. B., Averna, M., Cabibi, D., Spina, R., Barbagallo, C. M. & Noto, D., 2020, In: ENDOCRINE. 7 p.

  Research output: Contribution to journal › Article › peer-review

• 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, Sileo, F., Bartuli, A., Iannuzzo, G., Cicero, A., Tarugi, P., Bertolini, S., Catapano, A. L., Arca, M., Bucci, M. & Fasano, T., 2020, In: ATHEROSCLEROSIS. 312, p. 72-78 7 p.

  Research output: Contribution to journal › Article › peer-review
• 2017

  Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

  Barbagallo, C. M., Averna, M., Averna, M., Cefalu', A. B., Spina, R. & Noto, D., 2017, In: Atherosclerosis Supplements. 29, p. 11-16 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Hyperlipoproteinemia Type II
  • Inborn Genetic Diseases
  • Atherosclerosis
  • Lipids
  • Dyslipidemias
  23 Citations (Scopus)

• Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol–diabetes connection? A systematic review of literature

  Averna, M., Cefalu', A. B., Barbagallo, C. 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

  • Familial Hypobetalipoproteinemia
  • Diabetes Mellitus
  • Systematic Reviews
  • Hyperlipoproteinemia Type II
  • LDL Cholesterol
  9 Citations (Scopus)

• Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing

  Spina, R., Averna, M., Scrimali, C., Misiano, G., Barbagallo, C. M., Altieri, G. I., 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, Noto, D. & Fayer, F., 2017, In: Journal of Clinical Lipidology. 11, p. 272-281 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Nonsense Codon
  • Hypertriglyceridemia
  • Mutation
  • Triglycerides
  • Exons
  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

  • Hyperlipoproteinemia Type II
  • Mutation
  • Heterozygote
  • Apolipoproteins E
  • Italy
  26 Citations (Scopus)
• 2020

  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
• 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

  • Proprotein Convertase 9
  • oxidized low density lipoprotein
  • Epidermal Growth Factor
  • LDL Receptors
  • Peptides
  2 Citations (Scopus)
• 2017

  Genotypic and phenotypic characterization of patients with autosomal dominant hypercholesterolemia in sicily

  Averna, M., Valenti, V., Giammanco, A., Scrimali, C., Ingrassia, V., Cefalu', A. B., Altieri, G. I., Barbagallo, C. M., Spina, R., Misiano, G., Ganci, A., Noto, D. & Fayer, F., 2017, p. e235-. 1 p.

  Research output: Contribution to conference › Other › peer-review

  • Sicily
  • Hyperlipoproteinemia Type II
  • Mutation
  • Xanthomatosis
  • Tendons