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Articles (63)
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1

Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches

DâAdamo, Maria Cristina, Liantonio, Antonella, Rolland, Jean-Francois, Pessia, Mauro, Imbrici, Paola

Journal:

International Journal of Molecular Sciences

Année:

2020

Fichier:

PDF, 1.26 MB

2020

2

Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvβ1.1 and Kv1.4-1.1/Kvβ1.2

Paola Imbrici, Maria Cristina D'Adamo, Dimitri M. Kullmann, Mauro Pessia

Journal:

European Journal of Neuroscience

Année:

2006

Langue:

english

Fichier:

PDF, 889 KB

english, 2006

3

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

Brugnoni, Raffaella, Kapetis, Dimos, Imbrici, Paola, Pessia, Mauro, Canioni, Eleonora, Colleoni, Lara, de Rosbo, Nicole Kerlero, Morandi, Lucia, Cudia, Paola, Gashemi, Nasrin, Bernasconi, Pia, Desaphy

Journal:

Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 847 KB

english, 2013

4

Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate

Farinato, Alessandro, Altamura, Concetta, Imbrici, Paola, Maggi, Lorenzo, Bernasconi, Pia, Mantegazza, Renato, Pasquali, Livia, Siciliano, Gabriele, Lo Monaco, Mauro, Vial, Christophe, Sternberg, Dami

Journal:

Pharmacological Research

Année:

2019

Langue:

english

Fichier:

PDF, 3.33 MB

english, 2019

5

Skeletal muscle ClC-1 chloride channels in health and diseases

Altamura, Concetta, Desaphy, Jean-Francois, Conte, Diana, De Luca, Annamaria, Imbrici, Paola

Journal:

Pflügers Archiv European Journal of Physiology

Année:

2020

Fichier:

PDF, 844 KB

2020

6

Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels

Paola Imbrici, Antonella Cusimano, Maria D'Adamo, Amalia De Curtis, Mauro Pessia

Journal:

Pflügers Archiv European Journal of Physiology

Année:

2003

Langue:

english

Fichier:

PDF, 270 KB

english, 2003

7

Role of receptor protein tyrosine phosphatase α (RPTPα) and tyrosine phosphorylation in the serotonergic inhibition of voltage-dependent potassium channels

Paola Imbrici, Stephen J. Tucker, Maria Cristina D'Adamo, Mauro Pessia

Journal:

Pflügers Archiv European Journal of Physiology

Année:

2000

Langue:

english

Fichier:

PDF, 92 KB

english, 2000

8

Autism with Seizures and Intellectual Disability: Possible Causative Role of Gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1

Federico Sicca, Paola Imbrici, Maria Cristina D'Adamo, Francesca Moro, Fabrizia Bonatti, Paola Brovedani, Alessandro Grottesi, Renzo Guerrini, Gabriele Masi, Filippo Maria Santorelli, Mauro Pessia

Journal:

Neurobiology of Disease

Année:

2011

Langue:

english

Fichier:

PDF, 1.24 MB

english, 2011

9

Differential pH sensitivity of Kir4.1 and Kir4.2 potassium channels and their modulation by heteropolymerisation with Kir5.1

Mauro Pessia, Paola Imbrici, Maria Cristina D'Adamo, Lorena Salvatore, Stephen J. Tucker

Journal:

The Journal of Physiology

Année:

2001

Langue:

english

Fichier:

PDF, 641 KB

english, 2001

10

Trace amines depress D2-autoreceptor-mediated responses on midbrain dopaminergic cells

Ada Ledonne, Mauro Federici, Michela Giustizieri, Mauro Pessia, Paola Imbrici, Mark J Millan, Giorgio Bernardi, Nicola B Mercuri

Journal:

British Journal of Pharmacology

Année:

2010

Langue:

english

Fichier:

PDF, 699 KB

english, 2010

11

Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2

Tracey D. Graves, Paola Imbrici, Esther E. Kors, Gisela M. Terwindt, Louise H. Eunson, Rune R. Frants, Joost Haan, Michel D. Ferrari, Peter J. Goadsby, Michael G. Hanna, Arn M.J.M. van den Maagdenberg

Journal:

Neurobiology of Disease

Année:

2008

Langue:

english

Fichier:

PDF, 513 KB

english, 2008

12

Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature

Orazio Brunetti, Paola Imbrici, Fabio Massimo Botti, Vito Enrico Pettorossi, Maria Cristina D'Adamo, Mario Valentino, Christian Zammit, Marina Mora, Sara Gibertini, Giuseppe Di Giovanni, Richard Musca

Journal:

Neurobiology of Disease

Année:

2012

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2012

13

A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1

P. Imbrici, F. Gualandi, M.C. D'Adamo, M. Taddei Masieri, P. Cudia, D. De Grandis, R. Mannucci, I. Nicoletti, S.J. Tucker, A. Ferlini, M. Pessia

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 1.25 MB

english, 2008

14

G.P.18.09 Functional characterisation of a novel mutation causing episodic ataxia type 1 occurring in the KCNA1 gene

P. Imbrici, F. Gualandi, M. D’Adamo, P. Cudia, D. De Grandis, A. Ferlini, M. Pessia

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

15

Modification by ageing of the tetrodotoxin-sensitive sodium channels in rat skeletal muscle fibres

Jean-François Desaphy, Annamaria De Luca, Paola Imbrici, Diana Conte Camerino

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Année:

1998

Langue:

english

Fichier:

PDF, 697 KB

english, 1998

16

Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A

Imbrici, P., Eunson, L. H., Graves, T. D., Bhatia, K. P., Wadia, N. H., Kullmann, D. M., Hanna, M. G.

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 435 KB

english, 2005

17

587 Role of the Innate Immune System in the Pathogenesis of Gluten Sensitivity : Preliminary Study

Anna Sapone, Lucia Imbrici, Maria Teresa Giuliano, Marcella Cammarota, Mario De Rosa, Maria Cartenì, Carlo Tolone, Alfonso Papparella, Valeria Familiari, Karen Lammers, Laura de Magistris, Alessio Fas

Journal:

Gastroenterology

Année:

2008

Langue:

english

Fichier:

PDF, 92 KB

english, 2008

18

PA.39 ROLE OF TLR PATHWAY IN THE PATHOGENESIS OF GLUTEN SENSITIVITY: PRELIMINARY STUDY

A. Sapone, L. Imbrici, M.T. Giuliano, M. Cammarota, M. De Rosa, M. Cartenì, R. Cariello, G. Caravelli, L. Martorelli, C. Tolone, A. Papparella, V. Familiari, G. Riegler, A. Fasano, L. de Magistris

Journal:

Digestive and Liver Disease

Année:

2008

Langue:

english

Fichier:

PDF, 79 KB

english, 2008

19

The Kir5.1 Potassium Channel is an Important Determinant of Neuronal PCO2/pH Sensitivity

D'Adamo, M. Cristina, Shang, Lijun, Imbrici, Paola, Brown, Steve D.M, Pessia, Mauro, Tucker, Stephen J.

Journal:

Biophysical Journal

Année:

2011

Langue:

english

Fichier:

PDF, 57 KB

english, 2011

20

Some aspects of application of electroradiography in high energy ionising radiation

D'Adamo, M. Cristina, Shang, Lijun, Imbrici, Paola, Brown, Steve D.M, Pessia, Mauro, Tucker, Stephen J.

Journal:

NDT & E International

Année:

1991

Langue:

english

Fichier:

PDF, 158 KB

english, 1991

21

Kidney CLC-K Chloride Channels Show Differential Pharmacological Profiles Depending on the Heterologous Expression System

Liantonio, Antonella, Imbrici, Paola, Gramegna, Gianluca, Gradogna, Antonella, Zifarelli, Giovanni, Laghezza, Antonio, Fracchiolla, Giuseppe, Carbonara, Giuseppe, Loiodice, Fulvio, Pusch, Michael, Con

Journal:

Biophysical Journal

Année:

2013

Langue:

english

Fichier:

PDF, 45 KB

english, 2013

22

Contributions of the central hydrophobic residue in the PXP motif of Voltage-Dependent K+ Channels to S6 flexibility and Gating Properties

Imbrici, Paola, Grottesi, Alessandro, D'Adamo, Maria Cristina, Tucker, Stephen J., Pessia, Mauro

Journal:

Biophysical Journal

Année:

2009

Langue:

english

Fichier:

PDF, 44 KB

english, 2009

23

All-Atom Molecular Dynamics Simulations of the K+ Channel Chimera Kv1.2/Kv2.1

Grottesi, Alessandro, Imbrici, Paola, Chillemi, Giovanni, Pessia, Mauro

Journal:

Biophysical Journal

Année:

2010

Langue:

english

Fichier:

PDF, 41 KB

english, 2010

24

Involvement of Barttin Subunit in Pharmacological Potentiation of CLC-K Channels Expressed in Xenopus Oocytes

Gradogna, Antonella, Liantonio, Antonella, Imbrici, Paola, Conte Camerino, Diana, Pusch, Michael

Journal:

Biophysical Journal

Année:

2014

Langue:

english

Fichier:

PDF, 47 KB

english, 2014

25

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes

Desaphy, Jean-François, Gramegna, Gianluca, Altamura, Concetta, Dinardo, Maria Maddalena, Imbrici, Paola, George, Alfred L., Modoni, Anna, LoMonaco, Mauro, Conte Camerino, Diana

Journal:

Experimental Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 5.60 MB

english, 2013

26

Targeting kidney CLC-K channels: Pharmacological profile in a human cell line versus Xenopus oocytes

Imbrici, Paola, Liantonio, Antonella, Gradogna, Antonella, Pusch, Michael, Camerino, Diana Conte

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Année:

2014

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2014

27

I–J loop involvement in the pharmacological profile of CLC-K channels expressed in Xenopus oocytes

Gradogna, Antonella, Imbrici, Paola, Zifarelli, Giovanni, Liantonio, Antonella, Camerino, Diana Conte, Pusch, Michael

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Année:

2014

Langue:

english

Fichier:

PDF, 2.06 MB

english, 2014

28

G.P.137

Imbrici, P., Desaphy, J.F., Brugnoni, R., Colleoni, L., Canioni, E., Kapetis, D., Altamura, C., Bernasconi, P., Morandi, L., Maggi, L., Mantegazza, R., Conte, D.

Journal:

Neuromuscular Disorders

Année:

2014

Langue:

english

Fichier:

PDF, 43 KB

english, 2014

29

Genetic Inactivation of Kcnj16 Identifies Kir5.1 as an Important Determinant of Neuronal PCO2/pH Sensitivity

D'Adamo, M. C., Shang, L., Imbrici, P., Brown, S. D. M., Pessia, M., Tucker, S. J.

Journal:

Journal of Biological Chemistry

Année:

2011

Langue:

english

Fichier:

PDF, 1.90 MB

english, 2011

30

Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 584 KB

english, 2004

31

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene

D'Adamo, Maria C., GallenmÃ¼ller, Constanze, Servettini, Ilenio, Hartl, Elisabeth, Tucker, Stephen J., Arning, Larissa, Biskup, Saskia, Grottesi, Alessandro, Guglielmi, Luca, Imbrici, Paola, Bernascon

Journal:

Frontiers in Physiology

Année:

2015

Langue:

english

Fichier:

PDF, 4.86 MB

english, 2015

32

Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain

Imbrici, P., D'Adamo, M. C., Grottesi, A., Biscarini, A., Pessia, M.

Journal:

AJP Cell Physiology

Année:

2011

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2011

33

Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvbeta1.1

Imbrici, P., D'Adamo, M. C., Cusimano, A., Pessia, M.

Journal:

AJP Cell Physiology

Année:

2006

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2006

34

Andersen-Tawil syndrome: New potassium channel mutations and possible phenotypic variation

Davies, N. P., Imbrici, P., Fialho, D., Herd, C., Bilsland, L. G., Weber, A., Mueller, R., Hilton-Jones, D., Ealing, J., Boothman, B. R., Giunti, P., Parsons, L. M., Thomas, M., Manzur, A. Y., Jurkat-

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 455 KB

english, 2005

35

Clinical, Molecular, and Functional Characterization ofCLCN1Mutations in Three Families with Recessive Myotonia Congenita

Portaro, Simona, Altamura, Concetta, Licata, Norma, Camerino, Giulia M., Imbrici, Paola, Musumeci, Olimpia, Rodolico, Carmelo, Conte Camerino, Diana, Toscano, Antonio, Desaphy, Jean-François

Journal:

NeuroMolecular Medicine

Année:

2015

Langue:

english

Fichier:

PDF, 1.84 MB

english, 2015

36

Functional and pharmacological characterization of the new M1808I mutation in hNav1.4 found in a patient presenting with myotonia and myasthenia

Roussel, J., Imbrici, P., Maggi, L., Farinato, A., Crescenzo, G., Bernasconi, P., Mantegazza, R., Conte Camerino, D., Desaphy, J.

Journal:

Neuromuscular Disorders

Année:

2015

Langue:

english

Fichier:

PDF, 204 KB

english, 2015

37

Contribution of the central hydrophobic residue in the PXP motif of voltage-dependent K + channels to S6 flexibility and gating properties

Imbrici, Paola, Grottesi, Alessandro, D'Adamo, Maria C., Mannucci, Roberta, Tucker, Stephen J., Pessia, Mauro

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 999 KB

english, 2009

38

Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation

Desaphy, J.-F., Carbonara, R., D'Amico, A., Modoni, A., Roussel, J., Imbrici, P., Pagliarani, S., Lucchiari, S., Lo Monaco, M., Conte Camerino, D.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 967 KB

english, 2016

39

Kidney CLC-K Chloride Channels Inhibitors: Definition of Novel Structural Requirements and Efficacy in CLC-K Polymorphism Associated with Hypertension

Imbrici, Paola, Liantonio, Antonella, Fracchiolla, Giuseppe, Carbonara, Giuseppe, Dinardo, Maria Maddalena, Pusch, Michael, Conte, Diana

Journal:

Biophysical Journal

Année:

2015

Langue:

english

Fichier:

PDF, 59 KB

english, 2015

40

Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies

Imbrici, P., Altamura, C., Camerino, G. M., Mangiatordi, G. F., Conte, E., Maggi, L., Brugnoni, R., Musaraj, K., Caloiero, R., Alberga, D., Marsano, R. M., Ricci, G., Siciliano, G., Nicolotti, O., Mor

Journal:

The FASEB Journal

Année:

2016

Langue:

english

Fichier:

PDF, 1.44 MB

english, 2016

41

Kidney CLC-K chloride channels inhibitors

Liantonio, Antonella, Imbrici, Paola, Camerino, Giulia Maria, Fracchiolla, Giuseppe, Carbonara, Giuseppe, Giannico, Donato, Gradogna, Antonella, Mangiatordi, Giuseppe Felice, Nicolotti, Orazio, Tricar

Journal:

Journal of Hypertension

Année:

2016

Langue:

english

Fichier:

PDF, 9.31 MB

english, 2016

42

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation

Imbrici, P., Maggi, L., Mangiatordi, G. F., Dinardo, M. M., Altamura, C., Brugnoni, R., Alberga, D., Pinter, G. Lauria, Ricci, G., Siciliano, G., Micheli, R., Annicchiarico, G., Lattanzi, G., Nicolott

Journal:

The Journal of Physiology

Année:

2015

Langue:

english

Fichier:

PDF, 1.18 MB

english, 2015

43

Prevalence study of muscle channelopathies in Italy

Maggi, L., Lo Monaco, M., Portaro, S., Meola, G., Desaphy, J., Lucchiari, S., Pagliarani, S., Bernasconi, P., Imbrici, P., Comi, G., Mantegazza, R., Trojano, M., D'Amico, A., Pegoraro, E., Politano, L

Journal:

Neuromuscular Disorders

Année:

2016

Langue:

english

Fichier:

PDF, 198 KB

english, 2016

44

Pharmacovigilance database search discloses ClC-K channels as a novel target of the AT 1 receptor blockers valsartan and olmesartan

Imbrici, Paola, Tricarico, Domenico, Mangiatordi, Giuseppe Felice, Nicolotti, Orazio, Lograno, Marcello Diego, Conte, Diana, Liantonio, Antonella

Journal:

British Journal of Pharmacology

Année:

2017

Langue:

english

Fichier:

PDF, 647 KB

english, 2017

45

Paving the way for Bartter syndrome type 3 drug discovery: a hope from basic research

Imbrici, Paola, Conte, Diana, Liantonio, Antonella

Journal:

The Journal of Physiology

Année:

2017

Langue:

english

Fichier:

PDF, 395 KB

english, 2017

46

A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions

Imbrici, Paola, Altamura, Concetta, Gualandi, Francesca, Mangiatordi, Giuseppe Felice, Neri, Marcella, De Maria, Giovanni, Ferlini, Alessandra, Padovani, Alessandro, D'Adamo, Maria Cristina, Nicolotti

Journal:

Molecular and Cellular Neuroscience

Année:

2017

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2017

47

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia

Maggi, Lorenzo, Ravaglia, Sabrina, Farinato, Alessandro, Brugnoni, Raffaella, Altamura, Concetta, Imbrici, Paola, Camerino, Diana Conte, Padovani, Alessandro, Mantegazza, Renato, Bernasconi, Pia, Desa

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 718 KB

english, 2017

48

Mapping ligand binding pockets in ClC-1 channels through an integrated in silico and experimental approach using anthracene-9-carboxylic acid and niflumic acid

Altamura, C, Mangiatordi, G F, Nicolotti, O, Sahbani, D, Farinato, A, Leonetti, F, Carratù, M R, Conte, D, Desaphy, J-F, Imbrici, P

Journal:

British Journal of Pharmacology

Année:

2018

Langue:

english

Fichier:

PDF, 1003 KB

english, 2018

49

Major channels involved in neuropsychiatric disorders and therapeutic perspectives

Imbrici, Paola, Camerino, Diana Conte, Tricarico, Domenico

Journal:

Frontiers in Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 818 KB

english, 2013

50

ClC-1 chloride channels: state-of-the-art research and future challenges

Imbrici, Paola, Altamura, Concetta, Pessia, Mauro, Mantegazza, Renato, Desaphy, Jean-François, Camerino, Diana Conte

Journal:

Frontiers in Cellular Neuroscience

Année:

2015

Langue:

english

Fichier:

PDF, 1.37 MB

english, 2015