Find Research Outputs

Search results

• 2018

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

  Cefalu', A. B., Srivastava, N., Averna, M. & 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)

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

  Cefalu', A. B., Averna, M., 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., Van Lennep, J. R., Van Lennep, J. R., Soran, H., Marçais, C., Stroes, E. & 6 others, 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)
• 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)
• 2018

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

  Averna, M., Cefalu', A. B., Spina, R. & 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
  14 Citations (Scopus)

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

  Averna, M., Giammanco, A., 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)
• 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)
• 2018

  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., Van Lennep, J. R., Van Lennep, J. R., Alvarez-Sala Walther, L. A., Soran, H., Marçais, C. & 6 others, 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
  37 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
• 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
• 2018

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

  Cefalu', A. B., Spina, R., Scrimali, C., Giammanco, A., Valenti, V., Ingrassia, V., Barbagallo, C. M., Averna, M., Misiano, G., Monastero, R., 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
  5 Citations (Scopus)
• 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)
• 2018

  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)
• 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
• 2018

  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., Accardi, G., Marino Gammazza, A. & 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
• 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