Michael Pusch

Research staff

Education 1990 PhD 1987 Master (Diplom), Physics Current position Research Director (“Dirigente di Ricerca”) Scientific interests Biophysics and physiology of CLC transporters and channels Molecular mechanisms underlying activation of volume regulated anion channels Molecular and cellular mechanisms underlying familial hemiplegic migraine (FHM) Amino acid transport in lysosomes

orcid://0000-0002-8644-8847, ncbi://43680973

Contact:

- Email michael.pusch@ibf.cnr.it
- Phone +39-010-6475553
- Location Genova

Website:

http://users.ge.ibf.cnr.it/pusch/

Research interests:

- Quantitative single molecule localizations of channel proteins by using fluorescence super resolution tecniques (Principal investigator)
- Biophysics of intracellular CLC chloride / proton exchangers (Principal investigator)
- Characterization of LRRC8 volume regulated anion channels (Principal investigator)
- Migraine and the voltage-gated sodium channel (Principal investigator)
- Volume-regulated Cl and oxidation-activated K channels in invasiveness and immunotherapy efficiency in human melanoma (Principal investigator)
- Leveraging basic knowledge of ion channel network in cancer for innovative therapeutic strategies (LIONESS) (Principal investigator)
- Functional characterization of Kir4.1 and its involvement in age-related hearing loss

Further collaborations:

- Loretta Ferrera, Gaslini Children Hospital, Genova: Ion channek in cancer and genetic diseases Peying Fong, Kansas State University: CLCN6 related neurodegeneration Vera Kalscheuer, Max-Planck Institut, Berlin: CLCN4 related intellectual disability Emma Palmer, Royal North Shore Hospital, Sydney: CLCN4 related intellectual disability Pankaj Agrawal, Harvard University, Boston: CLCN3 related neurological disorders Thomas Jentsch, MDC and FMP Berlin: CLCN3 related neurological disorders Pontus Gourdon, University of Copenhagen: CLC structures Raùl Estévez, University of Barcelona: LRRC8 proteins Fernando Morales, University of Costa Rica: Myotonia Guiscard Seebohm, University of Münster: CLC-2 related diseases Holger Lerche, University of Tübingen: Familial hemiplegic migraine Nikolaus Plesnila, University of Munich: Familial hemiplegic migraine Tobias Freilinger, Klinikum Passau: Familial hemiplegic migraine Caterina La Porta, University of Milan: Ion channels and cancer Annarosa Arcangeli, University of Florence: Ion channels and cancer Bruno Gasnier, CNRS , Paris: Lysosomal amino acid transporters

Key publications:

Zifarelli G & Pusch M. 2009a. Conversion of the 2 Cl(-)/1 H(+) antiporter ClC-5 in a NO(3)(-)/H(+) antiporter by a single point mutation. Embo J 28:175-82

Picollo A & Pusch M. 2005. Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5. Nature 436:420-423

Duncan AR, Polovitskaya MM, Gaitan-Penas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L, van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estevez R, Jentsch TJ, Pusch M & Agrawal PB. 2021. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet doi: 10.1016/j.ajhg.2021.06.003

Ferrera L, Barbieri R, Picco C, Zuccolini P, Remigante A, Bertelli S, Fumagalli MR, Zifarelli G, La Porta CAM, Gavazzo P, Pusch M. 2021. TRPM2 oxidation activates two distinct potassium channels in melanoma cells through intracellular calcium increase. Int J Mol Sci doi: doi: 10.3390/ijms22168359

Jeworutzki E, López-Hernández T, Capdevila-Nortes X, Sirisi S, Bengtsson L, Montolio M, Zifarelli G, Arnedo T, Müller CS, Schulte U, Nunes V, Martínez A, Jentsch TJ, Gasull X, Pusch M, Estévez R. 2012. GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a ClC-2 Cl(-) Channel Auxiliary Subunit. Neuron 73:951-961

Publications (92):

BK Channel in the Physiology and in the Cancer of Pancreatic Duct: Impact and Reliability of BK Openers
Zuccolini Paolo, Gavazzo Paola and Pusch Michael
Frontiers in Pharmacology, 2022
DOI: 10.3389/fphar.2022.906608

Altered voltage-dependence of slowly activating chloride-proton antiport by late endosomal ClC-6 explains distinct neurological disorders
Zifarelli G.; Pusch M.; Fong P.
Journal of physiology (Camb., Online), 2022
DOI: 10.1113/JP282737

The VRAC blocker DCPIB directly gates the BK channels and increases intracellular Ca2+ in melanoma and pancreatic duct adenocarcinoma cell lines
Zuccolini Paolo; Ferrera Loretta; Remigante Alessia; Picco Cristiana; Barbieri Raffaella; Bertelli Sara; Moran Oscar; Gavazzo Paola; Pusch Michael
British journal of pharmacology, 2022
DOI: 10.1111/bph.15810

Molecular determinants underlying volume-regulated anion channel subunit-dependent oxidation sensitivity
Bertelli S.; Zuccolini P.; Gavazzo P.; Pusch M.
Journal of physiology (Lond., Print), 2022
DOI: 10.1113/JP283321

Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy
Nappi Mario, Barrese Vincenzo, Carotenuto Lidia, Lesca Gaetan, Labalme Audrey, Ville Dorothee, Smol Thomas, Rama Melanie, Dieux-Coeslier Anne, Rivier-Ringenbach Clotilde, Soldovieri Maria Virginia, Ambrosino Paolo, Mosca Ilaria, Pusch Michael, Miceli Francesco and Taglialatela Maurizio
Proceedings of the National Academy of Sciences of the United States of America, 2022
DOI: 10.1073/pnas.2116887119

Take a big sip and shrink it with ASOR
Scudieri Paolo and Pusch Michael
Pflügers Archiv, 2022
DOI: 10.1007/s00424-022-02750-3

Ion Channel Involvement in Tumor Drug Resistance
Altamura Concetta, Gavazzo Paola, Pusch Michael and Desaphy Jean-Francois
Journal of personalized medicine, 2022
DOI: 10.3390/jpm12020210

Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis
Rossler U.; Hennig A.F.; Stelzer N.; Bose S.; Kopp J.; Soe K.; Cyganek L.; Zifarelli G.; Ali S.; von der Hagen M.; Strassler E.T.; Hahn G.; Pusch M.; Stauber T.; Izsvak Z.; Gossen M.; Stachelscheid H.; Kornak U.
Journal of bone and mineral research (Online), 2021
DOI: 10.1002/jbmr.4322

Can unlikely neanderthal chloride channel clc-2 gene variants provide insights in modern human infertility?
Jeworutzki E.; Tuttelmann F.; Rothenberg I.; Pusch M.; Schreiber J.A.; Kliesch S.; Wunsch B.; Strutz-Seebohm N.; Seebohm G.
Cellular physiology and biochemistry (Online), 2021
DOI: 10.33594/000000376

Large transient capacitive currents in wild-type lysosomal Cl-/H+ antiporter ClC-7 and residual transport activity in the proton glutamate mutant E312A
Pusch M.; Zifarelli G.
The journal of general physiology (Online), 2021
DOI: 10.1085/jgp.202012583

Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients
Brenes O.; Barbieri R.; Vasquez M.; Vindas-Smith R.; Roig J.; Romero A.; Valle G.D.; Bermudez-Guzman L.; Bertelli S.; Pusch M.; Morales F.
Cells, 2021
DOI: 10.3390/cells10020374

Mechanisms of activation of LRRC8 volume regulated anion channels
Bertelli S.; Remigante A.; Zuccolini P.; Barbieri R.; Ferrera L.; Picco C.; Gavazzo P.; Pusch M.
Cellular physiology and biochemistry, 2021
DOI: 10.33594/000000329

An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies
Morales Fernando and Pusch Michael
Frontiers in neurology, 2020
DOI: 10.3389/fneur.2019.01404

Role of PKC in the Regulation of the Human Kidney Chloride Channel ClC-Ka
Gerbino Andrea; De Zio Roberta; Russo Daniela; Milella Luigi; Milano Serena; Procino Giuseppe; Pusch Michael; Svelto Maria and Carmosino Monica
Scientific reports (Nature Publishing Group), 2020
DOI: 10.1038/s41598-020-67219-8

Late sodium current blocker GS967 inhibits persistent currents induced by familial hemiplegic migraine type 3 mutations of the SCN1A gene
Barbieri R.; Bertelli S.; Pusch M.; Gavazzo P.
The Journal of headache and pain (Testo stamp.), 2019
DOI: 10.1186/s10194-019-1056-2

Structure of the human ClC-1 chloride channel
Wang K, Preisler SS, Zhang L, Cui Y, Missel JW, Grønberg C, Gotfryd K1, Lindahl E, Andersson M, Calloe K, Egea PF, Klaerke DA, Pusch M, Pedersen PA, Zhou ZH, Gourdon P
PLoS biology, 2019
DOI: 10.1371/journal.pbio.3000218

Gain of function of sporadic/familial hemiplegic migraine-causing SCN1A mutations: Use of an optimized cDNA
Bertelli S, Barbieri R, Pusch M, Gavazzo P
Cephalalgia (Oslo), 2019
DOI: 10.1177/0333102418788336

Expression of LRRC8/VRAC currents in Xenopus oocytes: Advantages and caveats
Gaitán-Peñas H, Pusch M, Estévez R
International journal of molecular sciences (Online), 2018
DOI: 10.3390/ijms19030719

CLC chloride channels and transporters: Structure, function, physiology, and disease
Jentsch TJ, Pusch M
Physiological reviews, 2018
DOI: 10.1152/physrev.00047.2017

The human two-pore channel 1 is modulated by cytosolic and luminal calcium
Lagostena L, Festa M, Pusch M, Carpaneto A
Scientific reports (Nature Publishing Group), 2017
DOI: 10.1038/srep43900

Cisplatin activates volume sensitive LRRC8 channel mediated currents in Xenopus oocytes
Gradogna A.; Gaitan-Penas H.; Boccaccio A.; Estevez R.; Pusch M.
Channels (Austin Tex.), 2017
DOI: 10.1080/19336950.2017.1284717

Subunit-dependent oxidative stress sensitivity of LRRC8 volume-regulated anion channels
Gradogna A, Gavazzo P, Boccaccio A, Pusch M
Journal of physiology (Lond., Print), 2017
DOI: 10.1113/JP274795

Kidney CLC-Kchloride channels inhibitors: structure-based studies and efficacy in hypertension and associated CLC-K polymorphisms
Liantonio A, Imbrici P, Camerino GM, Fracchiolla G, Carbonara G, Giannico D, Gradogna A, Mangiatordi GF, Nicolotti O, Tricarico D, Pusch M, Conte Camerino D
Journal of hypertension, 2016
DOI: 10.1097/HJH.0000000000000876

Investigation of LRRC8-Mediated Volume-Regulated Anion Currents in Xenopus Oocytes
Gaitán-Peñas H, Gradogna A, Laparra-Cuervo L, Solsona C, Fernández-Dueñas V, Barrallo-Gimeno A, Ciruela F, Lakadamyali M, Pusch M, Estévez R
Biophysical journal (Online), 2016
DOI: 10.1016/j.bpj.2016.08.030

KCNE1 induces fenestration in the Kv7.1/KCNE1 channel complex that allows for highly specific pharmacological targeting
Wrobel E, Rothenberg I, Krisp C, Hundt F, Fraenzel B, Eckey K, Linders JT, Gallacher DJ, Towart R, Pott L, Pusch M, Yang T, Roden DM, Kurata HT, Schulze-Bahr E, Strutz-Seebohm N, Wolters D, Seebohm G
Nature communications, 2016
DOI: 10.1038/ncomms12795

Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients
Vindas-Smith R.; Fiore M.; Vasquez M.; Cuenca P.; del Valle G.; Lagostena L.; Gaitan-Penas H.; Estevez R.; Pusch M.; Morales F.
Human mutation, 2016
DOI: 10.1002/humu.22916

The biophysics of piezo1 and piezo2 mechanosensitive channels
Soattin L.; Fiore M.; Gavazzo P.; Viti F.; Facci P.; Raiteri R.; Difato F.; Pusch M.; Vassalli M.
Biophysical chemistry (Print), 2016
DOI: 10.1016/j.bpc.2015.06.013

ClC-5: Physiological role and biophysical mechanisms
Pusch M.; Zifarelli G.
Cell calcium (Edinburgh), 2015
DOI: 10.1016/j.ceca.2014.09.007

Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy
Capdevila-Nortes X.; Jeworutzki E.; Elorza-Vidal X.; Barrallo-Gimeno A.; Pusch M.; Estevez R.
Journal of physiology (Camb., Online), 2015
DOI: 10.1113/JP270467

Regulatory-auxiliary subunits of CLC chloride channel-transport proteins
Barrallo-Gimeno A.; Gradogna A.; Zanardi I.; Pusch M.; Estevez R.
Journal of physiology (Lond., Print), 2015
DOI: 10.1113/JP270057

Biophysical properties of acid-sensing ion channels (ASICs)
Grunder S.; Pusch M.
Neuropharmacology, 2015
DOI: 10.1016/j.neuropharm.2014.12.016

Targeting kidney CLC-K channels: Pharmacological profile in a human cell line versus Xenopus oocytes
Imbrici P.; Liantonio A.; Gradogna A.; Pusch M.; Camerino D.C.
Biochimica et biophysica acta. Biomembranes, 2014
DOI: 10.1016/j.bbamem.2014.05.017

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations
Arnedo, Tanit; Aiello, Chiara; Jeworutzki, Elena; Dentici, Maria Lisa; Uziel, Graziella; Simonati, Alessandro; Pusch, Michael; Bertini, Enrico; Estevez, Raul
Neurogenetics (Oxf., Print), 2014
DOI: 10.1007/s10048-013-0381-x

Functional Analyses of Mutations in HEPACAM Causing Megalencephalic Leukoencephalopathy
Arnedo T.; Lopez-Hernandez T.; Jeworutzki E.; Capdevila-Nortes X.; Sirisi S.; Pusch M.; Estevez R.
Human mutation, 2014
DOI: 10.1002/humu.22622

GlialCAM, a CLC-2 Cl- Channel Subunit, Activates the Slow Gate of CLC Chloride Channels
Jeworutzki, Elena; Lagostena, Laura; Elorza-Vidal, Xabier; Lopez-Hernandez, Tania; Estevez, Raul; Pusch, Michael
Biophysical journal (Print), 2014
DOI: 10.1016/j.bpj.2014.07.040

I-J loop involvement in the pharmacological profile of CLC-K channels expressed in Xenopus oocytes
Gradogna, Antonella; Imbrici, Paola; Zifarelli, Giovanni; Liantonio, Antpnella; Camerino, Diana Conte; Pusch, Michael
Biochimica et biophysica acta. Biomembranes, 2014
DOI: 10.1016/j.bbamem.2014.07.021

Structural basis of PI(4,5)P-2-dependent regulation of GluA1 by phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP5K2A)
Seebohm, Guiscard; Wrobel, Eva; Pusch, Michael; Dicks, Markus; Terhag, Jan; Matschke, Veronika; Rothenberg, Ina; Ursu, Oana N.; Hertel, Fabian; Pott, Lutz; Lang, Florian; Schulze-Bahr, Eric; Hollmann, Michael; Stoll, Raphael; Strutz-Seebohm, Nathalie
Pflügers Archiv, 2014
DOI: 10.1007/s00424-013-1424-8

Thermal Sensitivity of CLC andTMEM16 Chloride Channelsand Transporters.
Pusch, Michael; Zifarelli, Giovanni
Current topics in membranes, 2014
DOI: 10.1016/B978-0-12-800181-3.00008-7

A single point mutation reveals gating of the human ClC-5 Cl-/H+ antiporter
De Stefano S, Pusch M, Zifarelli G
Journal of physiology (Lond., Print), 2013
DOI: 10.1113/jphysiol.2013.260240

An optical assay of the transport activity of ClC-7
Zanardi I, Zifarelli G, Pusch M
Scientific reports (Nature Publishing Group), 2013
DOI: 10.1038/srep01231

Alkaline pH block of CLC-K kidney chloride channels mediated by a pore lysine residue
Gradogna A, Pusch M
Biophysical journal (Print), 2013
DOI: 10.1016/j.bpj.2013.05.044

Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin
Ruivo R, Bellenchi GC, Chen X, Zifarelli G, Sagné C, Debacker C, Pusch M, Supplisson S, Gasnier B.
Proceedings of the National Academy of Sciences of the United States of America, 2012

The Arabidopsis central vacuole as an expression system for intracellular transporters: functional characterization of the Cl-/H+ exchanger CLC-7
Costa A; Gutla PVK; Boccaccio A; Scholz-Starke J; Festa M; Basso B; Zanardi I; Pusch M; Lo Schiavo F; Gambale F; Carpaneto A
Journal of physiology (Lond., Print), 2012
DOI: 10.1113/jphysiol.2012.230227

GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a CIC-2 Cl- Channel Auxiliary Subunit
Jeworutzki E; López-Hernández T; Capdevila-Nortes X; Bengtsson L; Sirisi S; Montolio M; Zifarelli G; Arnedo T; Müller CS; Schulte U; Nunes V; Martínez A; Jentsch TJ; Gasull X; Pusch M; Estévez R
Neuron (Camb. Mass.), 2012
DOI: 10.1016/j.neuron.2011.12.039

On the mechanism of gating charge movement of ClC-5, a human Cl(-)/H(+) antiporter
Zifarelli G., De Stefano S., Zanardi I., Pusch M.
Biophysical journal (Print), 2012
DOI: 10.1016/j.bpj.2012.03.067

Dissecting a regulatory calcium-binding site of CLC-K kidney chloride channels
Gradogna A; Fenollar-Ferrer C; Forrest LR, Pusch M
The Journal of general physiology, 2012
DOI: 10.1085/jgp.201210878

A Kick-Start for CLC Antiporters' Pharmacology
Zifarelli G, Pusch M
Chemistry & biology (Print), 2012
DOI: 10.1016/j.chembiol.2012.10.009

Structural basis of slow activation gating in the cardiac I Ks channel complex
Strutz-Seebohm N, Pusch M, Wolf S, Stoll R, Tapken D, Gerwert K, Attali B, Seebohm G
Cellular physiology and biochemistry, 2011

Extracellular Determinants of Anion Discrimination of the Cl-/H+ Antiporter Protein CLC-5
De Stefano S, Pusch M, Zifarelli G
The Journal of biological chemistry (Print), 2011
DOI: 10.1074/jbc.M111.272815

CLC transport proteins in plants
Zifarelli G, Pusch M.
FEBS letters (Print), 2010

The role of protons in fast and slow gating of the Torpedo chloride channel ClC-0.
Zifarelli G, Pusch M.
European biophysics journal, 2010

A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels
Gradogna A, Babini E, Picollo A, Pusch M
The Journal of general physiology, 2010
DOI: 10.1085/jgp.201010455

Identification of sites responsible for the potentiating effect of niflumic acid on ClC-Ka kidney chloride channels.
Zifarelli G, Liantonio A, Gradogna A, Picollo A, Gramegna G, De Bellis M, Murgia AR, Babini E, Camerino DC, Pusch M
British journal of pharmacology, 2010
DOI: 10.1111/j.1476-5381.2010.00822.x

Relaxing messages from the sarcolemma
Zifarelli G., Pusch M.

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations
Pangrazio A, Pusch M, Caldana E, Frattini A, Lanino E, Tamhankar PM, Phadke S, Lopez AG, Orchard P, Mihci E, Abinun M, Wright M, Vettenranta K, Bariae I, Melis D, Tezcan I, Baumann C, Locatelli F, Zecca M, Horwitz E, Mansour LS, Van Roij M, Vezzoni P, Vil
Human mutation, 2010
DOI: 10.1002/humu.21167

Molecular pharmacology of kidney and inner ear CLC-K chloride channels
Gradogna A., Pusch M.

It's the proton also in ClC-2.
Pusch M. Zifarelli G.

Conversion of the 2 Cl(-)/1 H(+) antiporter ClC-5 in a NO(3)(-)/H(+) antiporter by a single point mutation.
Giovanni Zifarelli; Michael Pusch
EMBO journal (Print), 2009
DOI: 10.1038/emboj.2008.284

Intracellular regulation of human ClC-5 by adenine nucleotides.
Giovanni Zifarelli; Michael Pusch
EMBO reports (Print), 2009

Molecular switch for CLC-K Cl- channel block/activation: optimal pharmacophoric requirements towards high affinity ligands.
Liantonio A, Picollo A, Carbonara G, Fracchiolla G, Tortorella P, Loiodice F, Laghezza A, Babini E, Zifarelli G, Pusch M, Conte Camerino D.
Proceedings of the National Academy of Sciences of the United States of America, 2008

Determinants of anion-proton coupling in mammalian endosomal CLC proteins.
Anselm A. Zdebik; Giovanni Zifarelli; Eun-Yeong Bergsdorf; Paolo Soliani; Olaf Scheel; Thomas J. Jentsch; Michael Pusch
The Journal of biological chemistry (Print), 2008
DOI: 10.1074/jbc.M708368200

The muscle chloride channel ClC-1 is not directly regulated by intracellular ATP.
Zifarelli G, Pusch M.
The Journal of general physiology, 2008

Buffered diffusion around a spherical proton pumping cell: a theoretical analysis.
Zifarelli G, Soliani P, Pusch M.
Biophysical journal (Print), 2008

Intracellular proton regulation of ClC-0.
Zifarelli G, Murgia AR, Soliani P, Pusch M.
The Journal of general physiology, 2008

Divergent Sodium Channel Defects in Familial Hemiplegic Migraine.
Kristopher M. Kahlig; Thomas H. Rhodes; Michael Pusch; Tobias Freilinger; Jose´ M. Pereira-Monteiro; Michel D. Ferrari; Arn M. J. M. van den Maagdenberg; Martin Dichgans; Alfred L. George, Jr
Proceedings of the National Academy of Sciences of the United States of America, 2008
DOI: 10.1073/pnas.0711717105

Molecular switch for CLC-K Cl- channel block/activation: Optimal pharmacophoric requirements towards high-affinity ligands
Liantonio A1, Picollo A, Carbonara G, Fracchiolla G, Tortorella P, Loiodice F, Laghezza A, Babini E, Zifarelli G, Pusch M, Camerino DC
Proceedings of the National Academy of Sciences of the United States of America, 2008
DOI: 10.1073/pnas.0708977105

Niflumic acid inhibits chloride conductance of rat skeletal muscle by directly inhibiting the CLC-1 channel and by increasing intracellular calcium.
Liantonio A, Giannuzzi V, Picollo A, Babini E, Pusch M, Conte Camerino D
British journal of pharmacology, 2007
DOI: 10.1038/sj.bjp.0706954

Myotonia-related mutations in the distal C-terminus of ClC-1 and ClC-0 chloride channels affect the structure of a poly-proline helix.
Macías M.J., Teijido O., Zifarelli G., Martin P., Ramirez-Espain X., Zorzano A., Palacín M., Pusch M., Estévez R.
Biochemical journal (Lond., 1984), 2007

The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957.
Vanmolkot KR, Babini E, de Vries B, Stam AH, Freilinger T, Terwindt GM, Norris L, Haan J, Frants RR, Ramadan NM, Ferrari MD, Pusch M, van den Maagdenberg AM, Dichgans M.
Human mutation, 2007

CLC chloride channels and transporters in physiology and pathophysiology.
Giovanni Zifarelli; Michael Pusch
Reviews of physiology, biochemistry and pharmacology, 2007
DOI: 10.1007/11220060605

Mechanism of Interaction of Niflumic Acid with Heterologously Expressed Kidney CLC-K Chloride Channels.
Picollo A, Liantonio A, Babini E, Camerino DC, Pusch M
The journal of membrane biology (Print), 2007
DOI: 10.1007/s00232-007-9034-z

Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine
Boukje de Vries; Tobias Freilinger; Kaate R.J. Vanmolkot; Jan B. Koenderink; Anine H. Stam; Gisela M. Terwindt; Elena Babini; Eelke H. van den Boogerd; Jeroen J.M.W. van den Heuvel; Rune R. Frants; Joost Haan; Michael Pusch; Arn M.J.M. van den Maagdenberg; Michel D. Ferrari; Martin Dichgans
Neurology, 2007
DOI: 10.1212/01.wnl.0000295670.01629.5a

Strong modulation by RFamide neuropeptides of the ASIC1b/3 heteromer in competition with extracellular calcium.
Chen X., Paukert M., Kadurin I., Pusch M., Grunder S.
Neuropharmacology, 2006

Activation and inhibition of kidney CLC-K chloride channels by fenamates
Liantonio A, Picollo A, Babini E, Carbonara G, Fracchiolla G, Loiodice F, Tortorella V, Pusch M, Camerino DC
Molecular pharmacology (Print), 2006
DOI: 10.1124/mol.105.017384

Channel or transporter? The CLC saga continues
Pusch M, Zifarelli G, Murgia AR, Picollo A, Babini E
Experimental physiology (Print), 2006
DOI: 10.1113/expphysiol.2005.031799

Proton sensing of CLC-0 mutant E166D.
Traverso S., Zifarelli G., Aiello R., Pusch M.

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.
Martin Dichgans; Tobias Freilinger; Gertrud Eckstein; Elena Babini; Bettina Lorenz-Depiereux; Saskia Biskup; Michel D Ferrari; Jürgen Herzog; Arn M J M van den Maagdenberg; Michael Pusch; Tim M Strom
Lancet (Br. ed.), 2005
DOI: 10.1016/S0140-6736(05)66786-4

Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5.
Alessandra Picollo; Michael Pusch
Nature (Lond.), 2005
DOI: 10.1038/nature03720

Molecular determinants of KCNQ (Kv7) K+ channel sensitivity to the anticonvulsant retigabine.
Anne Schenzer; Thomas Friedrich; Michael Pusch; Paul Saftig; Thomas J. Jentsch; Joachim Grötzinger; Michael Schwake
The Journal of neuroscience, 2005
DOI: 10.1523/JNEUROSCI.0128-05.2005

Unique structure and function of chloride transporting CLC proteins
Pusch M., Jentsch T.J.
IEEE transactions on nanobioscience, 2005

A Two-Holed Story: Structural Secrets About ClC Proteins Become Unraveled?
Babini E., Pusch M.
News in physiological sciences, 2004

Molecular determinants of differential pore blocking of kidney CLC-K chloride channels
Alessandra Picollo; Antonella Liantonio; Maria Paola Didonna; Laura Elia; Diana Conte Camerino; Michael Pusch
EMBO reports (Print), 2004
DOI: 10.1038/sj.embor.7400169

Conformational changes in the pore of ClC-0.
Accardi A. 1, Pusch M. 1

Convervation of chloride channel structure revealed by an inhibitor binding site in ClC-1.
Estevez R. 1, Schroeder B.C. 1, Accardi A. 2, Jentsch T.J. 1, Pusch M. 2
Neuron (Camb. Mass.), 2003

Structural requisites of 2-(p-chlorophenoxy)propionic acid analogues for activity on native rat skeletal muscle chloride conductance and on heterologously expressed ClC-1.
Liantonio A., De Luca A., Pierno S., Didonna M.P., Loiodice F., Tortorella P., Antonio L., Bonerba E., Traverso S., Elia L., Picollo A., Pusch M., Conte Camerino D.
British journal of pharmacology, 2003

Molecular modeling of p-chlorophenoxyacetic acid binding to the ClC-0 channel.
Moran O. 1, Traverso S. 1, Elia L. 1, Pusch M. 1
Biochemistry (Easton), 2003

Pharmacologic activation of normal and arrhythmia-associated mutant KCNQ1 potassium channels.
Seebohm G., Pusch M., Chen J., Sanguinetti M.C.
Circulation research, 2003

Tight coupling of rubidium conductance and inactivation in human KCNQ1 potassium channels.
Seebohm G. 1, Sanguinetti M.C. 2, Pusch M. 3

Gating competence of constitutively open ClC-0 mutants revealed by the interaction with a small organic inhibitor.
Traverso S. 1, Elia L. 1, Pusch M. 1

Molecular requisites for drug binding to muscle CLC-1 and renal CLC-K channel revealed by the use of phenoxy-alkyl derivatives of 2-(p-chlorophenoxy) propionic acid
Liantonio A. 1,2, Accardi A. 1, Carbonara G. 2, Fracchiotta G. 2, Loiodice F. 2, Tortorella P. 3, Traverso S. 1, Guida P. 1, Pierno S. 2, De Luca A. 2, Camerino D.C. 2, Pusch M. 1
Molecular pharmacology (Print), 2002

Myotonia caused by mutations in the muscle chloride channel gene CLCN1
Pusch M. 1
Human mutation, 2002

Mechanism of block of single protopores of the Torpedo chloride channel ClC-0 by 2-(p-chlorophenoxy)butyric acid (CPB).
Pusch M. 1, Accardi A. 1, Liantonio A. 2, Ferrera L. 1, De Luca A. 2, Camerino D.C. 2, Conti F. 1