Pubblicazioni

Author of 58 international peer-reviewed publications
  1.  Conte E, Pannunzio A, Imbrici P, Camerino GM, Maggi L, Mora M, Gibertini S, Cappellari O, De Luca A, Coluccia M, Liantonio A. Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy. Front Cell Dev Biol. 2021 Feb 26;9:635063. doi: 10.3389/fcell.2021.635063. 
  2. Brugnoni R, Maggi L, Canioni E, Verde F, Gallone A, Ariatti A, Filosto M, Petrelli C, Logullo FO, Esposito M, Ruggiero L, Tonin P, Riguzzi P, Pegoraro E, Torri F, Ricci G, Siciliano G, Silani V, Merlini L, De Pasqua S, Liguori R, Pini A, Mariotti C, Moroni I, Imbrici P, Desaphy JF, Mantegazza R, Bernasconi P. Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients. Neuromuscul Disord. 2021 Apr;31(4):336-347. doi: 10.1016/j.nmd.2020.12.003.
  3. Imbrici P, Accogli A, Blunck R, Altamura C, Iacomino M, D'adamo MC, Allegri A, Pedemonte M, Brolatti N, Vari S, Cataldi M, Capra V, Gustincich S, Zara F, Desaphy JF, Fiorillo C. Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel. Biomedicines. 2021 Jan 14;9(1):75. doi: 10.3390/biomedicines9010075.
  4. Altamura C, Ivanova EA, Imbrici P, Conte E, Camerino GM, Dadali EL, Polyakov AV, Kurbatov SA, Girolamo F, Carratù MR, Desaphy JF. Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia. Front Neurol. 2020 Sep 4;11:1019. doi: 10.3389/fneur.2020.01019.
  5. Hasan S, Megaro A, Cenciarini M, Coretti L, Botti FM, Imbrici P, Steinbusch HWM, Hunter T, Hunter G, Pessia M, D'Adamo MC. Electromechanical coupling of the Kv1.1 voltage-gated K+ channel is fine-tuned by the simplest amino acid residue in the S4-S5 linker. Pflugers Arch. 2020 Jul;472(7):899-909. doi: 10.1007/s00424-020-02414-0.
  6. Conte E, Fonzino A, Cibelli A, De Benedictis V, Imbrici P, Nicchia GP, Pierno S, Camerino GM. Changes in Expression and Cellular Localization of Rat Skeletal Muscle ClC-1 Chloride Channel in Relation to Age, Myofiber Phenotype and PKC Modulation. Front Pharmacol. 2020 May 15;11:714. doi: 10.3389/fphar.2020.00714.  
  7. D'Adamo MC, Liantonio A, Conte E, Pessia M, Imbrici P. Ion Channels Involvement in Neurodevelopmental Disorders. Neuroscience. 2020 Aug 1;440:337-359. doi: 10.1016/j.neuroscience.2020.05.032. Corrigendum to "Ion Channels Involvement in Neurodevelopmental Disorders" [Neuroscience 440C (2020) 337-359]. Neuroscience. 2020 Sep 1;443:233. doi: 10.1016/j.neuroscience.2020.07.026.
  8. Imbrici P, Nematian-Ardestani E, Hasan S, Pessia M, Tucker SJ, D'Adamo MC. Altered functional properties of a missense variant in the TRESK K+ channel (KCNK18) associated with migraine and intellectual disability. Pflugers Arch. 2020 Jul;472(7):923-930. doi: 10.1007/s00424-020-02382-5.
  9. Altamura C, Desaphy JF, Conte D, De Luca A, Imbrici P. Skeletal muscle ClC-1 chloride channels in health and diseases. Pflugers Arch. 2020 Jul;472(7):961-975. doi: 10.1007/s00424-020-02376-3.
  10. D'Adamo MC, Liantonio A, Rolland JF, Pessia M, Imbrici P. Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches. Int J Mol Sci. 2020 Apr 22;21(8):2935. doi: 10.3390/ijms21082935.
  11. Sahbani D, Strumbo B, Tedeschi S, Conte E, Camerino GM, Benetti E, Montini G, Aceto G, Procino G, Imbrici P, Liantonio A. Functional Study of Novel Bartter's Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine. Front Pharmacol. 2020 Mar 17;11:327. doi: 10.3389/fphar.2020.00327. 
  12. Desaphy JF, Farinato A, Altamura C, De Bellis M, Imbrici P, Tarantino N, Caccia C, Melloni E, Padoani G, Vailati S, Keywood C, Carratù MR, De Luca A, Conte D, Pierno S. Safinamide's potential in treating nondystrophic myotonias: Inhibition of skeletal muscle voltage-gated sodium channels and skeletal muscle hyperexcitability in vitro and in vivo. Exp Neurol. 2020 Jun;328:113287. doi: 10.1016/j.expneurol.2020.113287.
  13. Cavalluzzi MM, Imbrici P, Gualdani R, Stefanachi A, Mangiatordi GF, Lentini G, Nicolotti O. Human ether-à-go-go-related potassium channel: exploring SAR to improve drug design. Drug Discov Today. 2020 Feb;25(2):344-366. doi: 10.1016/j.drudis.2019.11.005.
  14. De Salvia MA, DʼUggento AM, Aquilino G, Tattoli M, Finelli C, Imbrici P, Desaphy JF, Giustino A. Characterization of Student Drinking Behaviors at the Beginning of the First Academic Year at One University in Southern Italy. J Addict Nurs. 2019 Jul/Sep;30(3):193-200. doi: 10.1097/JAN.0000000000000288.PMID: 31478967
  15. Farinato A, Altamura C, Imbrici P, Maggi L, Bernasconi P, Mantegazza R, Pasquali L, Siciliano G, Lo Monaco M, Vial C, Sternberg D, Carratù MR, Conte D, Desaphy JF. Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate. Pharmacol Res. 2019 Mar;141:224-235. doi: 10.1016/j.phrs.2019.01.004.
  16. Karalok ZS, Megaro A, Cenciarini M, Guven A, Hasan SM, Taskin BD, Imbrici P, Ceylaner S, Pessia M, D'Adamo MC. Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I. Front Neurol. 2018 Jul 25;9:587. doi: 10.3389/fneur.2018.00587.
  17. Altamura C, Lucchiari S, Sahbani D, Ulzi G, Comi GP, D'Ambrosio P, Petillo R, Politano L, Vercelli L, Mongini T, Dotti MT, Cardani R, Meola G, Lo Monaco M, Matthews E, Hanna MG, Carratù MR, Conte D, Imbrici P, Desaphy JF. The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel. Hum Mutat. 2018 Sep;39(9):1273-1283. doi: 10.1002/humu.23581.
  18. Imbrici P, Nicolotti O, Leonetti F, Conte D, Liantonio A. Ion Channels in Drug Discovery and Safety Pharmacology. Methods Mol Biol. 2018;1800:313-326. doi: 10.1007/978-1-4939-7899-1_15.
  19. Conte E, Imbrici P, Sahbani D, Liantonio A, Conte D. [Bartter syndrome, severe rare orphan kidney disease: a step towards therapy through pharmacogenetic and epidemiological studies]. G Ital Nefrol. 2018 May;35(3):2018-vol3.PMID: 29786180 Italian.
  20. Altamura C, Mangiatordi GF, Nicolotti O, Sahbani D, Farinato A, Leonetti F, Carratù MR, Conte D, Desaphy JF, Imbrici P. Mapping ligand binding pockets in chloride ClC-1 channels through an integrated in silico and experimental approach using anthracene-9-carboxylic acid and niflumic acid. Br J Pharmacol. 2018 May;175(10):1770-1780. doi: 10.1111/bph.14192.
  21. Maggi L, Ravaglia S, Farinato A, Brugnoni R, Altamura C, Imbrici P, Camerino DC, Padovani A, Mantegazza R, Bernasconi P, Desaphy JF, Filosto M. Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia. Neurogenetics. 2017 Dec;18(4):219-225. doi: 10.1007/s10048-017-0525-5.
  22. Imbrici P, Altamura C, Gualandi F, Mangiatordi GF, Neri M, De Maria G, Ferlini A, Padovani A, D'Adamo MC, Nicolotti O, Pessia M, Conte D, Filosto M, Desaphy JF. A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions. Mol Cell Neurosci. 2017 Sep;83:6-12. doi: 10.1016/j.mcn.2017.06.006.
  23. Imbrici P, Conte D, Liantonio A. Paving the way for Bartter syndrome type 3 drug discovery: a hope from basic research. J Physiol. 2017 Aug 15;595(16):5403-5404. doi: 10.1113/JP274645.
  24. Imbrici P, Tricarico D, Mangiatordi GF, Nicolotti O, Lograno MD, Conte D, Liantonio A. Pharmacovigilance database search discloses ClC-K channels as a novel target of the AT1 receptor blockers valsartan and olmesartan. Br J Pharmacol. 2017 Jul;174(13):1972-1983. doi: 10.1111/bph.13794.
  25. Imbrici P, Altamura C, Camerino GM, Mangiatordi GF, Conte E, Maggi L, Brugnoni R, Musaraj K, Caloiero R, Alberga D, Marsano RM, Ricci G, Siciliano G, Nicolotti O, Mora M, Bernasconi P, Desaphy JF, Mantegazza R, Camerino DC. Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies. FASEB J. 2016 Oct;30(10):3285-3295. doi: 10.1096/fj.201500079R.
  26. Tricarico D, Selvaggi M, Passantino G, De Palo P, Dario C, Centoducati P, Tateo A, Curci A, Maqoud F, Mele A, Camerino GM, Liantonio A, Imbrici P, Zizzo N. ATP Sensitive Potassium Channels in the Skeletal Muscle Function: Involvement of the KCNJ11(Kir6.2) Gene in the Determination of Mechanical Warner Bratzer Shear Force. Front Physiol. 2016 May 10;7:167. doi: 10.3389/fphys.2016.00167.
  27. Imbrici P, Liantonio A, Camerino GM, De Bellis M, Camerino C, Mele A, Giustino A, Pierno S, De Luca A, Tricarico D, Desaphy JF, Conte D. Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery. Front Pharmacol. 2016 May 10;7:121. doi: 10.3389/fphar.2016.00121.
  28. Desaphy JF, Carbonara R, D'Amico A, Modoni A, Roussel J, Imbrici P, Pagliarani S, Lucchiari S, Lo Monaco M, Conte Camerino D. Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation. Neurology. 2016 May 31;86(22):2100-8. doi: 10.1212/WNL.0000000000002721.
  29. Liantonio A, Imbrici P, Camerino GM, Fracchiolla G, Carbonara G, Giannico D, Gradogna A, Mangiatordi GF, Nicolotti O, Tricarico D, Pusch M, Camerino DC. Kidney CLC-K chloride channels inhibitors: structure-based studies and efficacy in hypertension and associated CLC-K polymorphisms. J Hypertens. 2016 May;34(5):981-92. doi: 10.1097/HJH.0000000000000876.
  30. Imbrici P, Maggi L, Mangiatordi GF, Dinardo MM, Altamura C, Brugnoni R, Alberga D, Pinter GL, Ricci G, Siciliano G, Micheli R, Annicchiarico G, Lattanzi G, Nicolotti O, Morandi L, Bernasconi P, Desaphy JF, Mantegazza R, Camerino DC. ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation. J Physiol. 2015 Sep 15;593(18):4181-99. doi: 10.1113/JP270358.
  31. Portaro S, Altamura C, Licata N, Camerino GM, Imbrici P, Musumeci O, Rodolico C, Conte Camerino D, Toscano A, Desaphy JF. Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita. Neuromolecular Med. 2015 Sep;17(3):285-96. doi: 10.1007/s12017-015-8356-8.
  32. Imbrici P, Altamura C, Pessia M, Mantegazza R, Desaphy JF, Camerino DC. ClC-1 chloride channels: state-of-the-art research and future challenges. Front Cell Neurosci. 2015 Apr 27;9:156. doi: 10.3389/fncel.2015.00156.
  33. D'Adamo MC, Gallenmüller C, Servettini I, Hartl E, Tucker SJ, Arning L, Biskup S, Grottesi A, Guglielmi L, Imbrici P, Bernasconi P, Di Giovanni G, Franciolini F, Catacuzzeno L, Pessia M, Klopstock T. Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene. Front Physiol. 2015 Jan 15;5:525. doi: 10.3389/fphys.2014.00525.
  34. Gradogna A, Imbrici P, Zifarelli G, Liantonio A, Camerino DC, Pusch M. I-J loop involvement in the pharmacological profile of CLC-K channels expressed in Xenopus oocytes. Biochim Biophys Acta. 2014 Nov;1838(11):2745-56. doi: 10.1016/j.bbamem.2014.07.021.
  35. Imbrici P, Liantonio A, Gradogna A, Pusch M, Camerino DC. Targeting kidney CLC-K channels: pharmacological profile in a human cell line versus Xenopus oocytes. Biochim Biophys Acta. 2014 Oct;1838(10):2484-91. doi: 10.1016/j.bbamem.2014.05.017.
  36. Desaphy JF, Gramegna G, Altamura C, Dinardo MM, Imbrici P, George AL Jr, Modoni A, Lomonaco M, Conte Camerino D. Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes. Exp Neurol. 2013 Oct;248:530-40. doi: 10.1016/j.expneurol.2013.07.018.
  37. Brugnoni R, Kapetis D, Imbrici P, Pessia M, Canioni E, Colleoni L, de Rosbo NK, Morandi L, Cudia P, Gashemi N, Bernasconi P, Desaphy JF, Conte D, Mantegazza R. A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. J Hum Genet. 2013 Sep;58(9):581-7. doi: 10.1038/jhg.2013.58.
  38. Imbrici P, Camerino DC, Tricarico D. Major channels involved in neuropsychiatric disorders and therapeutic perspectives. Front Genet. 2013 May 7;4:76. doi: 10.3389/fgene.2013.00076.
  39. Brunetti O, Imbrici P, Botti FM, Pettorossi VE, D'Adamo MC, Valentino M, Zammit C, Mora M, Gibertini S, Di Giovanni G, Muscat R, Pessia M. Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature. Neurobiol Dis. 2012 Sep;47(3):310-21. doi: 10.1016/j.nbd.2012.05.002.
  40. Sicca F, Imbrici P, D'Adamo MC, Moro F, Bonatti F, Brovedani P, Grottesi A, Guerrini R, Masi G, Santorelli FM, Pessia M. Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1. Neurobiol Dis. 2011 Jul;43(1):239-47. doi: 10.1016/j.nbd.2011.03.016.
  41. Imbrici P, D'Adamo MC, Grottesi A, Biscarini A, Pessia M. Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain. Am J Physiol Cell Physiol. 2011 Jun;300(6):C1314-22. doi: 10.1152/ajpcell.00456.2010.
  42. D'Adamo MC, Shang L, Imbrici P, Brown SD, Pessia M, Tucker SJ. Genetic inactivation of Kcnj16 identifies Kir5.1 as an important determinant of neuronal PCO2/pH sensitivity. J Biol Chem. 2011 Jan 7;286(1):192-8. doi: 10.1074/jbc.M110.189290.
  43. Ledonne A, Federici M, Giustizieri M, Pessia M, Imbrici P, Millan MJ, Bernardi G, Mercuri NB. Trace amines depress D(2)-autoreceptor-mediated responses on midbrain dopaminergic cells. Br J Pharmacol. 2010 Jul;160(6):1509-20. doi: 10.1111/j.1476-5381.2010.00792.x.PMID: 20590640 
  44. Imbrici P, Grottesi A, D'Adamo MC, Mannucci R, Tucker SJ, Pessia M. Contribution of the central hydrophobic residue in the PXP motif of voltage-dependent K+ channels to S6 flexibility and gating properties. Channels (Austin). 2009 Jan-Feb;3(1):39-45. doi: 10.4161/chan.3.1.7548.
  45. Imbrici P, Gualandi F, D'Adamo MC, Masieri MT, Cudia P, De Grandis D, Mannucci R, Nicoletti I, Tucker SJ, Ferlini A, Pessia M. A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1. Neuroscience. 2008 Dec 2;157(3):577-87. doi: 10.1016/j.neuroscience.2008.09.022.
  46. Graves TD, Imbrici P, Kors EE, Terwindt GM, Eunson LH, Frants RR, Haan J, Ferrari MD, Goadsby PJ, Hanna MG, van den Maagdenberg AM, Kullmann DM. Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2. Neurobiol Dis. 2008 Oct;32(1):10-5. doi: 10.1016/j.nbd.2008.06.002.
  47. Imbrici P, D'Adamo MC, Kullmann DM, Pessia M. Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2. Eur J Neurosci. 2006 Dec;24(11):3073-83. doi: 10.1111/j.1460-9568.2006.05186.x.PMID: 17156368
  48. Imbrici P, D'Adamo MC, Cusimano A, Pessia M. Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvbeta1.1. Am J Physiol Cell Physiol. 2007 Feb;292(2):C778-87. doi: 10.1152/ajpcell.00259.2006.
  49. Davies NP, Imbrici P, Fialho D, Herd C, Bilsland LG, Weber A, Mueller R, Hilton-Jones D, Ealing J, Boothman BR, Giunti P, Parsons LM, Thomas M, Manzur AY, Jurkat-Rott K, Lehmann-Horn F, Chinnery PF, Rose M, Kullmann DM, Hanna MG. Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology. 2005 Oct 11;65(7):1083-9. doi: 10.1212/01.wnl.0000178888.03767.74.PMID: 16217063
  50. Imbrici P, Eunson LH, Graves TD, Bhatia KP, Wadia NH, Kullmann DM, Hanna MG. Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. Neurology. 2005 Sep 27;65(6):944-6. doi: 10.1212/01.wnl.0000176069.64200.28.PMID: 16186543
  51. Imbrici P, Jaffe SL, Eunson LH, Davies NP, Herd C, Robertson R, Kullmann DM, Hanna MG. Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia. Brain. 2004 Dec;127(Pt 12):2682-92. doi: 10.1093/brain/awh301.
  52. Imbrici P, Cusimano A, D'Adamo MC, De Curtis A, Pessia M. Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels. Pflugers Arch. 2003 Jun;446(3):373-9. doi: 10.1007/s00424-002-0962-2.
  53. Pessia M, Imbrici P, D'Adamo MC, Salvatore L, Tucker SJ. Differential pH sensitivity of Kir4.1 and Kir4.2 potassium channels and their modulation by heteropolymerisation with Kir5.1. J Physiol. 2001 Apr 15;532(Pt 2):359-67. doi: 10.1111/j.1469-7793.2001.0359f.x.PMID: 11306656 
  54. Imbrici P, Tucker SJ, D'Adamo MC, Pessia M. Role of receptor protein tyrosine phosphatase alpha (RPTPalpha) and tyrosine phosphorylation in the serotonergic inhibition of voltage-dependent potassium channels. Pflugers Arch. 2000 Dec;441(2-3):257-62. doi: 10.1007/s004240000406.PMID: 11211111
  55. Tucker SJ, Imbrici P, Salvatore L, D'Adamo MC, Pessia M. pH dependence of the inwardly rectifying potassium channel, Kir5.1, and localization in renal tubular epithelia. J Biol Chem. 2000 Jun 2;275(22):16404-7. doi: 10.1074/jbc.C000127200.PMID: 10764726
  56. D'Adamo MC, Imbrici P, Sponcichetti F, Pessia M. Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function. FASEB J. 1999 Aug;13(11):1335-45. doi: 10.1096/fasebj.13.11.1335.PMID: 10428758
  57. Desaphy JF, De Luca A, Imbrici P, Conte Camerino D. Modification by ageing of the tetrodotoxin-sensitive sodium channels in rat skeletal muscle fibres. Biochim Biophys Acta. 1998 Aug 14;1373(1):37-46. doi: 10.1016/s0005-2736(98)00085-6.PMID: 9733912
  58. Desaphy JF, De Luca A, Pierno S, Imbrici P, Camerino DC. Partial recovery of skeletal muscle sodium channel properties in aged rats chronically treated with growth hormone or the GH-secretagogue hexarelin. J Pharmacol Exp Ther. 1998 Aug;286(2):903-12.PMID: 9694949

 

 

 

 

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pubblicato il 25/07/2013 — ultima modifica 14/05/2021