Original papers since
2013 (for
older publications see here):
Coppola MA, Gavazzo P, Zanardi I, Tettey-Matey A, Liantonio A, Fong P, Pusch M.
2023. Distinct ClC-6 and ClC-7 Cl- sensitivities provide insight into ClC-7’s role in lysosomal Cl- homeostasis.
J Physiol doi: 10.1113/JP285431
Remigante A, Spinelli S, Zuccolini P, Gavazzo P, Marino A, Pusch M, Morabito R, Dossena S.
2023. Melatonin protects Kir2.1 function in an oxidative stress-related model of aging neuroglia.
Biofactors doi: 10.1002/biof.2024
Zuccolini P, Barbieri R, Sbrana F, Picco C, Gavazzo P, Pusch M.
2023. IK channel-independent effects of clotrimazole and senicapoc on cancer cells viability and migration.
Int J Mol Sci doi: 10.3390/ijms242216285
Haufe Y, Kuruva V, Samanani Z, Lokaj G, Kamnesky G, Shadamarshan P, Shahoei R, Katz D, Sampson JM, Pusch M, Brik A, Nicke A, Leffler AE..
2023. Basic Residues at Position 11 of α-Conotoxin LvIA Influence Subtype Selectivity between α3β2 and α3β4 Nicotinic Receptors via an Electrostatic Mechanism.
ACS Chem Neurosc doi: 10.1021/acschemneuro.3c00506
Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, Hashem MO, Stamberger H, Weckhuysen S, Vanlander A, Ceulemans B, Rajagopalan S, Nunn K, Arpin S, Raynaud M, Motter CS, Ward-Melver C, Janssens K, Meuwissen M, Beysen D, Dikow N, Grimmel M, Haack TB, Clement E, McTague A, Hunt D, Townshend S, Ward M, Richards LJ, Simons C, Costain G, Dupuis L, Mendoza-Londono R, Dudding-Byth T, Boyle J, Saunders C, Fleming E, El Chehadeh S, Spitz MA, Piton A, Gerard B, Abi Warde MT, Rea G, McKenna C, Douzgou S, Banka S, Akman C, Bain JM, Sands TT, Wilson GN, Silvertooth EJ, Miller L, Lederer D, Sachdev R, Macintosh R, Monestier O, Karadurmus D, Collins F, Carter M, Rohena L, Willemsen MH, Ockeloen CW, Pfundt R, Kroft SD, Field M, Laranjeira FER, Fortuna AM, Soares AR, Michaud V, Naudion S, Golla S, Weaver DD, Bird LM, Friedman J, Clowes V, Joss S, Pölsler L, Campeau PM, Blazo M, Bijlsma EK, Rosenfeld JA, Beetz C, Powis Z, McWalter K, Brandt T, Torti E, Mathot M, Mohammad SS, Armstrong R, Kalscheuer VM
2022. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry doi: 10.1038/s41380-022-01852-9
Bertelli S, Zuccolini P, Gavazzo P, Pusch M.
2022. Molecular determinants underlying volume-regulated anion channel subunit-dependent oxidation sensitivity.
J Physiol doi: 10.1113/JP283321
Zifarelli G, Pusch M, Fong P.
2022. Altered voltage-dependence of slowly activating chloride-proton antiport by late endosomal ClC-6 explains distinct neurological disorders. J Physiol doi: 10.1113/JP282737
Nappi M, Barrese V, Carotenuto L, Lesca G, Labalme A, Ville D, Smol T, Rama M, Dieux-Coeslier A, Rivier-Ringenbach C, Soldovieri MV, Ambrosino P, Mosca I, Pusch M, Miceli F, Taglialatela M.
2022. Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy. PNAS 119:e2116887119. doi: 10.1073/pnas.2116887119.
Zuccolini P, Ferrera L, Remigante A, Picco C, Barbieri R, Bertelli S, Moran O, Gavazzo P, Pusch M.
2022. The VRAC blocker DCPIB directly gates the BK channels and increases intracellular Ca2+ in Melanoma and Pancreatic Duct Adenocarcinoma (PDAC) cell lines. Br J Pharmacol 13:6144, doi: 10.1111/bph.15810
Remigante A, Zuccolini P, Barbieri R, Ferrera L, Morabito R, Gavazzo P, Pusch M, Picco C.
2021. NS-11021 Modulates Cancer-Associated Processes Independently of BK Channels in Melanoma and Pancreatic Duct Adenocarcinoma Cell Lines. Cancers 13:6144, doi: 10.3390/cancers13236144
Remigante A, Spinelli S, Trichilo V, Loddo S, Sarikas A, Pusch M, Dossena S, Marino A, Morabito R.
2021. d-Galactose induced early aging in human erythrocytes: Role of band 3 protein.
J Cell Physiol doi: 10.1002/jcp.30632
Auffenberg E, Hedrich UBS, Barbieri R, Miely D, Groschup B, Wuttke TV, Vogel N, Lührs P, Zanardi I, Bertelli S, Spielmann N, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Pusch M, Dichgans M, Lerche H, Gavazzo P, Plesnila N, Freilinger T.
2021. Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model.
J Clin Invest doi: 10.1172/JCI142202
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: 10.3390/ijms22168359
Leray X, Conti R, Li Y, Debacker C, Castelli F, Fenaille F, Zdebik AA, Pusch M, Gasnier B.
2021. Arginine-selective modulation of the lysosomal transporter PQLC2 through a gate-tuning mechanism.
PNAS doi: doi: 10.1073/pnas.2025315118
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
Jeworutzki E, Tüttelmann F, Rothenberg I, Pusch M, Schreiber JA, Kliesch S, Wünsch B, Strutz-Seebohm N, Seebohm G.
2021. Can unlikely Neanderthal chloride channel CLC-2 gene variants provide insights in modern human infertility?
Cell Physiol Biochem doi: 10.33594/000000376
Rössler U, Hennig AF, Stelzer N, Bose S, Kopp J, Søe K, Cyganek L, Zifarelli G, Ali S, von der Hagen M, Strässler ET, Hahn G, Pusch M, Stauber T, Izsvák Z, Gossen M, Stachelscheid H, Kornak U.
2021. Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis.
J Bone Miner Res doi: 10.1002/jbmr.4322
Zifarelli G, Zuccolini P, Bertelli S, Pusch M.
2021. The Joy of Markov Models: Channel Gating and Transport Cycling Made Easy.
The Biophysicist doi: 10.35459/tbp.2019.000125
Brenes O, Barbieri R, Vásquez M, Vindas-Smith R, Roig J, Romero A, Del Valle G, Bermúdez-Guzmán L, Bertelli S, Pusch M*, Morales F*.
2021. Functional and structural characterization of ClC-1 and Nav 1.4 channels resulting from CLCN1 and SCN4A mutations identified alone and coexisting in myotonic patients.
Cells doi: 10.3390/cells10020374
Pusch M, Zifarelli G.
2020. Large transient capacitive currents in wild-type lysosomal Cl(-)/H(+) antiporter ClC-7 and residual transport activity in the proton glutamate mutant E312A.
J Gen Physiol 10:10268;
doi: 10.1085/jgp.202012583
Gerbino A, De Zio R, Russo D, Milella L, Milano S, Procino G, Pusch M, Svelto M, Carmosino M.
2020. Role of PKC in the regulation of the human kidney chloride channel ClC-Ka.
Sci Rep 10:10268;
doi: 10.1038/s41598-020-67219-8
Barbieri R, Bertelli S, Pusch M, Gavazzo P.
2019. Late sodium current blocker GS967 inhibits persistent currents induced by familial hemiplegic migraine type 3 mutations of the SCN1A gene.
J Headache Pain
doi: 10.1186/s10194-019-1056-2
Wang K, Preisler SS, Zhang L, Cui Y, Missel JW, Grønberg C, Gotfryd K, Lindahl E, Andersson M, Calloe K,
Egea PF, Klaerke DA, Pusch M, Pedersen PA, Zhou ZH, Gourdon P.
2019. Structure of the human ClC-1 chloride channel.
Plos Biol
doi: 10.1371/journal.pbio.3000218
Bertelli S, Barbieri R, Pusch M, Gavazzo P.
2018. Gain of function of sporadic/familial hemiplegic migraine-causing SCN1A mutations: Use of an optimized cDNA.
Cephalalgia
doi: 10.1177/0333102418788336
Gradogna A, Gavazzo P, Boccaccio A, Pusch M.
2017. Subunit-dependent oxidative stress sensitivity of LRRC8 volume-regulated anion channel.
J Physiol 595:6719-6733;
doi: 10.1113/JP274795
Lagostena L, Festa M, Pusch M, Carpaneto A.
2017. The human two-pore channel 1 is modulated by cytosolic and luminal calcium.
Sci Rep
doi: 10.1038/srep43900
Gradogna A, Gaitán-Peñas H, Boccaccio A, Estévez R, Pusch M.
2017. Cisplatin activates volume sensitive LRRC8 channel mediated currents in Xenopus oocytes.
Channels (Austin) doi: 10.1080/19336950.2017.128471.
Full text access.
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.
2016. KCNE1 induces fenestration in the Kv7.1/KCNE1 channel complex that allows for highly specific pharmacological targeting.
Nat Commun
10.1038/ncomms12795
Gaitán-Peñas H, Gradogna A, Laparra-Cuervo L, Solsona C, Fernández-Dueñas V, Barrallo-Gimeno A, Ciruela F, Lakadamyali M, Pusch M, Estévez R.
2016. Investigation of LRRC8-mediated volume-regulated anion currents in Xenopus oocytes. Biophys J
111:1429-1443. doi: 10.1016/j.bpj.2016.08.030
Liantonio A, Imbrici P, Camerino GM, Fracchiolla G, Carbonara G, Giannico D, Gradogna A, Mangiatordi GF, Nicolotti O, Tricarico D, Pusch M, Camerino DC.
2016. Kidney CLC-K chloride channels inhibitors: structure-based studies and efficacy in hypertension and associated CLC-K polymorphisms. J Hypertens doi: 10.1097/HJH.0000000000000876
Vindas-Smith R, Fiore M, Vásquez M, Cuenca P, Del Valle G, Lagostena L, Gaitán-Peñas H, Estevez R, Pusch M, Morales F.
2015. Identification and functional characterization of CLCN1 mutations found in nondystrophic myotonia patients. Hum Mutat, doi: 10.1002/humu.22916
Capdevila-Nortes X, Jeworutzki E, Elorza-Vidal X, Barrallo-Gimeno A, Pusch M, Estévez R.
2015. Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy. J Physiol593:4165-4180
Jeworutzki E, Lagostena L, Elorza-Vidal X, López-Hernández T, Estévez R, Pusch M.
2014. GlialCAM, a CLC-2 Cl(-) channel subunit, activates the slow gate of CLC chloride channels. Biophys J 107:1105-1116
Gradogna A, Imbrici P, Zifarelli G, Liantonio A, Camerino DC, Pusch M.
2014. I-J loop involvement in the pharmacological profile of CLC-K channels expressed in Xenopus oocytes. Biochim Biophys Acta 1838:2745-2756
Arnedo T, López-Hernández T, Jeworutzki E, Capdevila-Nortes X, Sirisi S, Pusch M, Estévez R.
2014. Functional Analyses of Mutations in HEPACAM Causing Megalencephalic Leukoencephalopathy. Hum Mutat 2014 Jul 18.
Imbrici P, Liantonio A, Gradogna A, Pusch M, Camerino DC.
2014. Targeting kidney CLC-K channels: Pharmacological profile in a human cell line versus Xenopus oocytes.
Biochim Biophys Acta
1838:2484-2491
Seebohm
G, Wrobel E, Pusch M, Dicks M, Terhag J, Matschke V, Rothenberg I, Ursu
ON, Hertel F, Pott L, Lang F, Schulze-Bahr E, Hollmann M, Stoll R,
Strutz-Seebohm N.
2014. Structural basis of PI(4,5)P2-dependent regulation of GluA1 by
phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP5K2A). Pflugers Arch
Arnedo T,
Aiello C, Jeworutzki E, Dentici ML, Uziel G, Simonati A, Pusch M,
Bertini E, Estévez R.
2013. Expanding the spectrum of megalencephalic leukoencephalopathy
with subcortical cysts in two patients with GLIALCAM mutations. Neurogenetics
De
Stefano S, Pusch
M, Zifarelli G.
2013. A single point mutation reveals gating of the human CLC-5
Cl(-)/H(+) antiporter. J
Physiol 591:5879-93 Zanardi
I, Zifarelli G, Pusch M.
2013. An optical assay of the transport activity of ClC-7. Sci Rep 3:1231
Gradogna
A, Pusch M.
2013. Alkaline pH block of CLC-K kidney chloride channels mediated by a
pore lysine residue.
Biophys J 105:80-90