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• 2018

  Anti-PCSK9 treatment: Is ultra-low LDL always good?

  Giammanco, A., Averna, M., Barbagallo, C. M., Cefalu', A. B. & Noto, D., 2018, In: Cardiovascular Research.

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

  • oxidized low density lipoprotein
  • Lipids
  • Proprotein Convertases
  • Cholesterol
  • Monoclonal Antibodies
  5 Citations (Scopus)

• An unexplained congenital disorder of glycosylation-II in a child with neurohepatic involvement, hypercholesterolemia and hypoceruloplasminemia

  Cefalu', A. B., Cisarò, F., Porta, F., Jaeken, J., Pinon, M., Reggiani, S., Lefeber, D. J., Sturiale, L., Spada, M., Rabbone, I., Garozzo, D. & Calvo, P. L., 2018, In: JIMD Reports. 38, p. 97-100 4 p.

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

  • Congenital disorder of glycosylation type II
  • Glycosylation
  • Familial apoceruloplasmin deficiency
  • Hypercholesterolemia
  • Genes

• Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes

  Cefalu', A. B., Averna, M., Masana, L., Fellin, R., Manzato, E., Sánchez-Hernández, R. M., Sirtori, C., Minicocci, I., Prieto-Matos, P., Vogt, A., Sjouke, B., D'Erasmo, L., Fuentes, F. J., Sirtori, C., Pavanello, C., Scardapane, M., Real, J. T., Real, J. T., Ascaso, J. F., Lafuente, E. E. & 18 others, Sánchez-Hernández, R. M., Sirtori, C., Roeters Van Lennep, J. E., Pintus, P., Zambon, S., Harada-Shiba, M., Pes, G. M., Bertolini, S., Calabresi, L., Nicolucci, A., Pocovi, M., Mata, P., Muntoni, S., Zambon, A., Arca, M., Fuentes, F. J., Pacifico, A. A. & Noto, D., 2018, In: Journal of the American College of Cardiology. 71, p. 279-288 10 p.

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

  • Autosomal Recessive Hypercholesterolemia
  • LDL Cholesterol
  • BMS201038
  • Cardiovascular Diseases
  • Ezetimibe
  16 Citations (Scopus)

• Characterisation of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS): Establishment of an FCS clinical diagnostic score

  Averna, M., Cefalu', A. B., Banach, M., D'Erasmo, L., Reiner, Ž., Bruckert, E., Stefanutti, C., Gouni-Berthold, I., Johnson, C., Di Costanzo, A., Hughes, E., Dufour, R., Borén, J., Pintó, X., Hughes, E., Di Costanzo, A., Van Lennep, J. R., Van Lennep, J. R., Soran, H., Marçais, C. & 7 others, Stroes, E., Pintó, X., Cramb, R., Arca, M., Moulin, P., Walther, L. A. A-S. & Noto, D., 2018, In: Data in Brief. 21, p. 1334-1336 3 p.

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

  • Hyperlipoproteinemia Type I
  • Genotype
  2 Citations (Scopus)

• Circulating Molecular Chaperones in Subjects with Amnestic Mild Cognitive Impairment and Alzheimer's Disease: Data from the Zabùt Aging Project

  Cefalu', A. B., Monastero, R., Caruso Bavisotto, C., Cappello, F., Restivo, V., Marino Gammazza, A., Accardi, G. & Baschi, R., 2018, In: Journal of Alzheimer's Disease. p. 1-12 12 p.

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

  • Molecular Chaperones
  • Cognitive Dysfunction
  • Alzheimer Disease
  • Sicily
  • Italy

• Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

  Cefalu', A. B., Spina, R., Averna, M. & Noto, D., 2018, In: ATHEROSCLEROSIS. 277, p. 413-418 6 p.

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

  • Hyperlipoproteinemia Type II
  • Lipids
  • Population
  • Premature Birth
  • oxidized low density lipoprotein
  17 Citations (Scopus)

• Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred

  Spina, R., Scrimali, C., Giammanco, A., Valenti, V., Ingrassia, V., Averna, M., Barbagallo, C. M., Misiano, G., Monastero, R., Cefalu', A. B., Valenti, V., Spina, R., Cefalù, A. B., Ingrassia, V., Misiano, G., Averna, M. R., Noto, D. & Baschi, R., 2018, In: Journal of Clinical Lipidology. 12, p. 145-151 7 p.

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

  • Autosomal Recessive Hypercholesterolemia
  • Sicily
  • Molecular Epidemiology
  • Italy
  • Hyperlipoproteinemia Type II
  6 Citations (Scopus)

• Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an “FCS score”

  Averna, M., Cefalu', A. B., Banach, M., D'Erasmo, L., Reiner, Ž., Bruckert, E., Stefanutti, C., Gouni-Berthold, I., Johnson, C., Di Costanzo, A., Hughes, E., Dufour, R., Borén, J., Pintó, X., Hughes, E., Di Costanzo, A., Van Lennep, J. R., Van Lennep, J. R., Alvarez-Sala Walther, L. A., Soran, H. & 7 others, Marçais, C., Stroes, E., Pintó, X., Cramb, R., Arca, M., Moulin, P. & Noto, D., 2018, In: ATHEROSCLEROSIS. 275, p. 265-272 8 p.

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

  • Hyperlipoproteinemia Type I
  • Pancreatitis
  • Triglycerides
  • Lipoprotein Lipase
  • Hypertriglyceridemia
  38 Citations (Scopus)

• Lack of Correlation of Plasma HDL With Fecal Cholesterol and Plasma Cholesterol Efflux Capacity Suggests Importance of HDL Functionality in Attenuation of Atherosclerosis

  Averna, M., Srivastava, N., Cefalu', A. B. & Srivastava, R. A. K., 2018, In: Frontiers in Physiology. 9

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

  • Atherosclerosis
  • Cholesterol
  • HDL Cholesterol
  • Peroxisome Proliferator-Activated Receptors
  • Risk Reduction Behavior
  6 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., Averna, M., Misiano, G., Cefalu', A. B., Altieri, G. I., 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)
• 2020

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

  Spina, R., Scrimali, C., Cefalu', A. B. & 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., Spina, R., Barbagallo, C. M., Cefalu', A. B. & 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

  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

• 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

  Averna, M., Cefalu', A. B. & 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

• Therapeutic options for homozygous familial hypercholesterolemia: the role of Lomitapide

  Giammanco, A., Averna, M., Cefalu', A. B. & 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)