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A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability
Neurobiol Dis. 2018 Oct;118:55-63. doi: 10.1016/j.nbd.2018.06.012.
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A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability.
Front Mol Neurosci. 2018 Aug 6;11:269. doi: 10.3389/fnmol.2018.00269. eCollection 2018.
Campostrini G, DiFrancesco JC, Castellotti B, Milanesi R, Gnecchi-Ruscone T, Bonzanni M, Bucchi A, Baruscotti M, Ferrarese C, Franceschetti S, Canafoglia L, Ragona F, Freri E, Labate A, Gambardella A, Costa C, Gellera C, Granata T, Barbuti A, DiFrancesco D.
Modulation of the intrinsic neuronal excitability by multifunctional liposomes tailored for the treatment of Alzheimer’s disease.
Int J Nanomedicine. 2018 Jul 11;13:4059-4071. doi: 10.2147/IJN.S161563. eCollection 2018.
Binda A, Panariti A, Barbuti A, Murano C, Dal Magro R, Masserini M, Re F, Rivolta I.
A synthetic peptide that prevents cAMP regulation in mammalian Hyperpolarization-activated Cyclic Nucleotide-regulated (HCN) channels.
Elife. 2018 Jun 20;7. pii: e35753. doi: 10.7554/eLife.35753.
Saponaro A, Cantini F, Porro A, Bucchi A, DiFrancesco D, Maione V, Donadoni C, Introini B, Mesirca P, Mangoni ME, Thiel G, Banci L, Santoro B, Moroni A.
Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene.
Stem Cell Research
Volume 27, March 2018, Pages 25-29. doi: 10.1016/j.scr.2017.12.012.
Meraviglia V, Benzoni P, Landi S, Murano C, Langione M, Motta BM, Baratto S, Silipigni R, Di Segni M, Pramstaller PP, DiFrancesco D, Gazzerro E, Barbuti A, Rossini A.
Preferential myofibroblast differentiation of cardiac mesenchymal progenitor cells in the presence of atrial fibrillation.
Transl Res. 2018 Feb;192:54-67. doi: 10.1016/j.trsl.2017.11.003
Gambini E, Perrucci GL, Bassetti B, Spaltro G, Campostrini G, Lionetti MC, Pilozzi A, Martinelli F, Faruggia A, DiFrancesco D, Barbuti A, Pompilio G.
Structure-guided design of a cell penetrating peptide preventing cAMP modulation of HCN channels
bioRxiv, 253096 doi: https://doi.org/10.1101/253096
This article is a preprint and has not been peer-reviewed
Anna Moroni, Andrea Saponaro, Francesca Cantini, Alessandro Porro, Annalisa Bucchi, Dario DiFrancesco, Vincenzo Maione, Chiara Donadoni, Bianca Introini, Pietro Mesirca, Matteo E. Mangoni, Gerhard Thiel, Lucia Banci, Bina Santoro
Mammalian γ2 AMPK regulates intrinsic heart rate.
Nat Commun. 2017 Nov 2;8(1):1258. doi: 10.1038/s41467-017-01342-5.
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The expression of the rare caveolin-3 variant T78M alters cardiac ion channels function and membrane excitability.
Cardiovasc Res. 2017 Aug 1;113(10):1256-1265. doi: 10.1093/cvr/cvx122.
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A Traditional Chinese Medicine Drug (TMYX) Controls Heart Rate by Modulation of the Pacemaker (F) Channels
Biophysical Journal, Volume 112, Issue 3, Supplement 1, p412a, 3 February 2017. DOI: 10.1016/j.bpj.2016.11.2565
Manuel Paina, Chiara Piantoni, Luca Carnevali, Anthony Frosio, Annalisa Bucchi, Andrea Barbuti, Liu Sheng, Wang Yanyan, Yi Wang, Dario DiFrancesco, Mirko Baruscotti
HCN3 Channel Expression in Human Leukocytes
Biophysical Journal, Volume 112, Issue 3, Supplement 1, p415a, 3 February 2017. doi: 10.1016/j.bpj.2016.11.2224
Chiara Piantoni, Angelica Gualdoni, Claudia Bazzini, Raffaella Milanesi, Miryam Adelfio, Annalisa Bucchi, Andrea Barbuti, Matteo Pecchiari, Mirko Baruscotti, Dario DiFrancesco
A gain-of-function mutation in the cardiac pacemaker HCN4 channel increasing cAMP sensitivity is associated with familial Inappropriate Sinus Tachycardia.
Eur Heart J. 2017 Jan 21;38(4):280-288. doi: 10.1093/eurheartj/ehv582.
Baruscotti M, Bucchi A, Milanesi R, Paina M, Barbuti A, Gnecchi-Ruscone T, Bianco E, Vitali-Serdoz L, Cappato R, DiFrancesco D.
Anacardic acid and thyroid hormone enhance cardiomyocytes production from undifferentiated mouse ES cells along functionally distinct pathways.
Endocrine. 2016 Sep;53(3):681-8. doi: 10.1007/s12020-015-0751-2. Epub 2015 Nov 7.
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Mutation in S6 domain of HCN4 channel in patient with suspected Brugada syndrome modifies channel function.
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