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 (73):

ALLIN: A tool for annotation of a protein alignment combined with structural visualization
Picollo, Alessandra; Pusch, Michael
JOURNAL OF GENERAL PHYSIOLOGY, 157, 2025
DOI: 10.1085/jgp.202413635

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), 600, 2022
DOI: 10.1113/JP282737

BK Channel in the Physiology and in the Cancer of Pancreatic Duct: Impact and Reliability of BK Openers
Zuccolini, Paolo and Gavazzo, Paola and Pusch, Michael
frontiers in pharmacology, 13, 2022
DOI: 10.3389/fphar.2022.906608

Molecular determinants underlying volume-regulated anion channel subunit-dependent oxidation sensitivity
Bertelli S.; Zuccolini P.; Gavazzo P.; Pusch M.
journal of physiology (lond., print), 600, 2022
DOI: 10.1113/JP283321

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

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)issn: 1421-9778s. karger, 55, 2021
DOI: 10.33594/000000376

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)issn: 1523-4681blackwell science, inc., 36, 2021
DOI: 10.1002/jbmr.4322

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.
cellsissn: 2073-4409molecular diversity preservation international, 10, 2021
DOI: 10.3390/cells10020374

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)issn: 1540-7748rockefeller university press, 153, 2021
DOI: 10.1085/jgp.202012583

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 biochemistryissn: 1015-8987s. karger, 55, 2021
DOI: 10.33594/000000329

An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies
Morales, Fernando; Pusch, Michael
Frontiers In Neurology, 10, 2020
DOI: 10.3389/fneur.2019.01404

Intracellular CLC Transporters - From Kidney Stones to Intellectual Disability
Pusch, Michael; Picollo, Alessandra; Bertelli, Sara; Zifarelli, Giovanni; Palmer, Elizabeth E.; Kalscheuer, Vera
Biophysical Journal, 118, 2020

Molecular Mechanisms Underlying Oxidation Sensitivity of VRAC
Bertelli, Sara; Pusch, Michael
Biophysical Journal, 118, 2020

ROLE OF INTRACELLULAR CA2+IN THE REGULATION OF THE RENAL CHLORIDE CHANNEL CLC-KA
Gerbino, Andrea; De Zio, Roberta; Russo, Daniela; Milella, Luigi; Milano, Serena; Procino, Giuseppe; Pusch, Michael; Svelto, Maria; Carmosino, Monica
Nephrology Dialysis Transplantation, 35, 2020

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; Carmosino, Monica
Scientific Reports, 10, 2020
DOI: 10.1038/s41598-020-67219-8

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, 39, 2019
DOI: 10.1177/0333102418788336

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.), 20, 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, Gronberg C, Gotfryd K1, Lindahl E, Andersson M, Calloe K, Egea PF, Klaerke DA, Pusch M, Pedersen PA, Zhou ZH, Gourdon P
PLoS biology, 17, 2019
DOI: 10.1371/journal.pbio.3000218

CLC chloride channels and transporters: Structure, function, physiology, and disease
Jentsch TJ, Pusch M
Physiological reviews, 98, 2018
DOI: 10.1152/physrev.00047.2017

Expression of LRRC8/VRAC currents in Xenopus oocytes: Advantages and caveats
Gaitán-Peñas H, Pusch M, Estévez R
International journal of molecular sciences, 19, 2018
DOI: 10.3390/ijms19030719

Cisplatin activates volume sensitive LRRC8 channel mediated currents in Xenopus oocytes
Gradogna A.; Gaitan-Penas H.; Boccaccio A.; Estevez R.; Pusch M.
Channels , 11, 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 , 595, 2017
DOI: 10.1113/JP274795

The human two-pore channel 1 is modulated by cytosolic and luminal calcium
Lagostena L, Festa M, Pusch M, Carpaneto A
Scientific reports , 7, 2017
DOI: 10.1038/srep43900

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, 37, 2016
DOI: 10.1002/humu.22916

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), 111, 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, 7, 2016
DOI: 10.1038/ncomms12795

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, 34, 2016
DOI: 10.1097/HJH.0000000000000876

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, 208, 2016
DOI: 10.1016/j.bpc.2015.06.013

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

ClC-5: Physiological role and biophysical mechanisms
Pusch M.; Zifarelli G.
Cell calcium , 58, 2015
DOI: 10.1016/j.ceca.2014.09.007

Regulatory-auxiliary subunits of CLC chloride channel-transport proteins
Barrallo-Gimeno A.; Gradogna A.; Zanardi I.; Pusch M.; Estevez R.
Journal of physiology , 593, 2015
DOI: 10.1113/JP270057

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 (cambridge. online), 593, 2015
DOI: 10.1113/JP270467

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 , 15, 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, 35, 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, 107, 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, 1838, 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, 466, 2014
DOI: 10.1007/s00424-013-1424-8

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, 1838, 2014
DOI: 10.1016/j.bbamem.2014.05.017

Thermal Sensitivity of CLC andTMEM16 Chloride Channelsand Transporters.
Pusch, Michael; Zifarelli, Giovanni
Current topics in membranes, 74, 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, 591, 2013
DOI: 10.1113/jphysiol.2013.260240

Alkaline pH block of CLC-K kidney chloride channels mediated by a pore lysine residue
Gradogna A, Pusch M
Biophysical journal, 105, 2013

An optical assay of the transport activity of ClC-7
Zanardi I, Zifarelli G, Pusch M
Scientific reports, 3, 2013

GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a CIC-2 Cl- Channel Auxiliary Subunit
Jeworutzki E; Lopez-Hernandez T; Capdevila-Nortes X; Bengtsson L; Sirisi S; Montolio M; Zifarelli G; Arnedo T; Muller CS; Schulte U; Nunes V; Martinez A; Jentsch TJ; Gasull X; Pusch M; Estevez R
Neuron, 73, 2012

Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin
Ruivo R, Bellenchi GC, Chen X, Zifarelli G, Sagne' C, Debacker C, Pusch M, Supplisson S, Gasnier B.
Proceedings of the National Academy of Sciences of the United States of America, 109, 2012

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, 102, 2012
DOI: 10.1016/j.bpj.2012.03.067

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, 590, 2012
DOI: 10.1113/jphysiol.2012.230227

Extracellular Determinants of Anion Discrimination of the Cl-/H+ Antiporter Protein CLC-5
De Stefano S, Pusch M, Zifarelli G
Journal of biological chemistry, 286, 2011
DOI: 10.1074/jbc.M111.272815

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, 27, 2011

A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels
Gradogna A, Babini E, Picollo A, Pusch M
Journal of general physiology, 136, 2010
DOI: 10.1085/jgp.201010455

CLC transport proteins in plants
Zifarelli G, Pusch M
Febs letters, 584, 2010

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, 160, 2010
DOI: 10.1111/j.1476-5381.2010.00822.x

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
Human mutation, 31, 2010

Relaxing messages from the sarcolemma
Zifarelli G, Pusch M
Journal of general physiology, 136, 2010

The role of protons in fast and slow gating of the Torpedo chloride channel ClC-0.
Zifarelli G, Pusch M
European biophysics journal with biophysics letters, 39, 2010

Conversion of the 2 Cl(-)/1 H(+) antiporter ClC-5 in a NO(3)(-)/H(+) antiporter by a single point mutation.
Zifarelli G, Pusch M
Embo journal, 28, 2009
DOI: 10.1038/emboj.2008.284

Intracellular regulation of human ClC-5 by adenine nucleotides.
Zifarelli G, Pusch M
Embo reports, 10, 2009

It's the proton also in ClC-2.
Pusch M, Zifarelli G
Journal of physiology, 587, 2009

Buffered diffusion around a spherical proton pumping cell: a theoretical analysis.
Zifarelli G, Soliani P, Pusch M.
Biophysical journal, 94, 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
Journal of biological chemistry, 283, 2008
DOI: 10.1074/jbc.M708368200

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, 105, 2008
DOI: 10.1073/pnas.0711717105

Intracellular proton regulation of ClC-0.
Zifarelli G, Murgia AR, Soliani P, Pusch M.
Journal of general physiology, 132, 2008

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, 105, 2008
DOI: 10.1073/pnas.0708977105

The muscle chloride channel ClC-1 is not directly regulated by intracellular ATP.
Zifarelli G, Pusch M.
Journal of general physiology, 131, 2008

CLC chloride channels and transporters in physiology and pathophysiology.
Giovanni Zifarelli; Michael Pusch
Reviews of physiology, biochemistry and pharmacology, 158, 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.
Journal of membrane biology, 45, 2007
DOI: 10.1007/s00232-007-9034-z

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, 403, 2007

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, 150, 2007
DOI: 10.1038/sj.bjp.0706954

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
Neurology, 69, 2007
DOI: 10.1212/01.wnl.0000295670.01629.5a

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, 28, 2007

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., Conte Camerino D.
Molecular pharmacology, 69, 2006
DOI: 10.1124/mol.105.017384

Channel or transporter? The CLC saga continues.
Pusch, M., Zifarelli G., Murgia A.R., Picollo A., Babini E.
Experimental physiology, 91, 2006
DOI: 10.1113/expphysiol.2005.031799

Proton sensing of CLC-0 mutant E166D.
Traverso S., Zifarelli G., Aiello R., Pusch M.
Journal of General Physiology, 127, 2006

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, 50, 2006