{"entity": "researcher", "timestamp": "2026-09-23T18:49:36.708Z", "family": "Jans", "given": "Daniel C", "initials": "DC", "orcid": "0000-0002-6356-9742", "affiliations": [], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/9ff40f8719c944e6b0ff27ded3b05a27.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/9ff40f8719c944e6b0ff27ded3b05a27"}}, "publications": [{"entity": "publication", "iuid": "ae10dde75f17468cb23f7cc1868588e2", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/ae10dde75f17468cb23f7cc1868588e2.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/ae10dde75f17468cb23f7cc1868588e2"}}, "title": "ATP1A3 dysfunction causes motor hyperexcitability and afterhyperpolarization loss in a dystonia model.", "authors": [{"family": "Akkuratov", "given": "Evgeny E", "initials": "EE", "orcid": "0000-0002-2552-9512", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/abd9e4662bb543eebb0451af868bc319.json"}}, {"family": "Sorrell", "given": "Francesca", "initials": "F"}, {"family": "Picton", "given": "Laurence D", "initials": "LD"}, {"family": "Sousa", "given": "Vasco C", "initials": "VC", "orcid": "0000-0003-3575-0875", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f8257f3d6561484d8f1a2e88ede975b9.json"}}, {"family": "Paucar", "given": "Martin", "initials": "M", "orcid": "0000-0003-3735-1480", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d09ae68f3253456bae5112ee04a3b542.json"}}, {"family": "Jans", "given": "Daniel", "initials": "D", "orcid": "0000-0002-6356-9742", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9ff40f8719c944e6b0ff27ded3b05a27.json"}}, {"family": "Svensson", "given": "Lill-Britt", "initials": "LB"}, {"family": "Lindskog", "given": "Maria", "initials": "M", "orcid": "0000-0001-9484-1983", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/de1f718eadcd41b7b3d5834bf34886b1.json"}}, {"family": "Fritz", "given": "Nicolas", "initials": "N", "orcid": "0000-0002-9722-7425", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c191a09238064a52b559e43ee867de61.json"}}, {"family": "Liebmann", "given": "Thomas", "initials": "T"}, {"family": "Sillar", "given": "Keith T", "initials": "KT"}, {"family": "Rosewich", "given": "Hendrik", "initials": "H", "orcid": "0000-0003-4692-5511", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d75db0ebcee1483496fb5067e27fe10c.json"}}, {"family": "Svenningsson", "given": "Per", "initials": "P", "orcid": "0000-0001-6727-3802", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b01bbacfa24e4b9794734bf1121d1c38.json"}}, {"family": "Brismar", "given": "Hjalmar", "initials": "H", "orcid": "0000-0003-0578-4003", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/04321d9fb805493db538489927a42c8f.json"}}, {"family": "Miles", "given": "Gareth B", "initials": "GB"}, {"family": "Aperia", "given": "Anita", "initials": "A"}], "type": "journal article", "published": "2025-04-03", "journal": {"title": "Brain", "issn": "1460-2156", "volume": "148", "issue": "4", "pages": "1099-1105", "issn-l": "0006-8950"}, "abstract": "Mutations in the gene encoding the alpha3 Na+/K+-ATPase isoform (ATP1A3) lead to movement disorders that manifest with dystonia, a common neurological symptom with many different origins, but for which the underlying molecular mechanisms remain poorly understood. We have generated an ATP1A3 mutant mouse that displays motor impairments and a hyperexcitable motor phenotype compatible with dystonia. We show that neurons harbouring this mutation are compromised in their ability to extrude raised levels of intracellular sodium, highlighting a profound deficit in neuronal sodium homeostasis. We show that the spinal motor network in ATP1A3 mutant mice has a reduced responsiveness to activity-dependent rises in intracellular sodium and that this is accompanied by loss of the Na+/K+-ATPase-mediated afterhyperpolarization in motor neurons. Taken together, our data support that the alpha3 Na+/K+-ATPase is important for cellular and spinal motor network homeostasis. These insights suggest that it may be useful to consider ways to compensate for this loss of a critical afterhyperpolarization-dependent control of neuronal excitability when developing future therapies for dystonia.", "doi": "10.1093/brain/awae373", "pmid": "39533828", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC11967811"}, {"db": "pii", "key": "7896743"}], "notes": [], "created": "2026-09-23T12:29:54.670Z", "modified": "2026-09-23T14:47:46.364Z"}, {"entity": "publication", "iuid": "026e176cc2744047a1ae797684e42264", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/026e176cc2744047a1ae797684e42264.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/026e176cc2744047a1ae797684e42264"}}, "title": "A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy.", "authors": [{"family": "Ygberg", "given": "Sofia", "initials": "S", "orcid": "0000-0002-3854-2716", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0b032359f6bf48be84cbb595142d9382.json"}}, {"family": "Akkuratov", "given": "Evgeny E", "initials": "EE", "orcid": "0000-0002-2552-9512", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/abd9e4662bb543eebb0451af868bc319.json"}}, {"family": "Howard", "given": "Rebecca J", "initials": "RJ", "orcid": "0000-0003-2049-3378", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5ce04593b5b24aaa8978fda1447dd0bf.json"}}, {"family": "Taylan", "given": "Fulya", "initials": "F", "orcid": "0000-0002-2907-0235", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fc9bc4b87d0f43b9a0528e936921e5ae.json"}}, {"family": "Jans", "given": "Daniel C", "initials": "DC", "orcid": "0000-0002-6356-9742", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9ff40f8719c944e6b0ff27ded3b05a27.json"}}, {"family": "Mahato", "given": "Dhani R", "initials": "DR"}, {"family": "Katz", "given": "Adriana", "initials": "A"}, {"family": "Kinoshita", "given": "Paula F", "initials": "PF"}, {"family": "Portal", "given": "Benjamin", "initials": "B"}, {"family": "Nennesmo", "given": "Inger", "initials": "I"}, {"family": "Lindskog", "given": "Maria", "initials": "M", "orcid": "0000-0001-9484-1983", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/de1f718eadcd41b7b3d5834bf34886b1.json"}}, {"family": "Karlish", "given": "Steven J D", "initials": "SJD"}, {"family": "Andersson", "given": "Magnus", "initials": "M"}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}}, {"family": "Brismar", "given": "Hjalmar", "initials": "H", "orcid": "0000-0003-0578-4003", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/04321d9fb805493db538489927a42c8f.json"}}, {"family": "Aperia", "given": "Anita", "initials": "A"}], "type": "case reports", "published": "2021-12-00", "journal": {"title": "J Biol Chem", "issn": "1083-351X", "volume": "297", "issue": "6", "pages": "101355", "issn-l": "0021-9258"}, "abstract": "The ion pump Na+,K+-ATPase is a critical determinant of neuronal excitability; however, its role in the etiology of diseases of the central nervous system (CNS) is largely unknown. We describe here the molecular phenotype of a Trp931Arg mutation of the Na+,K+-ATPase catalytic \u03b11 subunit in an infant diagnosed with therapy-resistant lethal epilepsy. In addition to the pathological CNS phenotype, we also detected renal wasting of Mg2+. We found that membrane expression of the mutant \u03b11 protein was low, and ion pumping activity was lost. Arginine insertion into membrane proteins can generate water-filled pores in the plasma membrane, and our molecular dynamic (MD) simulations of the principle states of Na+,K+-ATPase transport demonstrated massive water inflow into mutant \u03b11 and destabilization of the ion-binding sites. MD simulations also indicated that a water pathway was created between the mutant arginine residue and the cytoplasm, and analysis of oocytes expressing mutant \u03b11 detected a nonspecific cation current. Finally, neurons expressing mutant \u03b11 were observed to be depolarized compared with neurons expressing wild-type protein, compatible with a lowered threshold for epileptic seizures. The results imply that Na+,K+-ATPase should be considered a neuronal locus minoris resistentia in diseases associated with epilepsy and with loss of plasma membrane integrity.", "doi": "10.1016/j.jbc.2021.101355", "pmid": "34717959", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8637647"}, {"db": "pii", "key": "S0021-9258(21)01161-3"}], "notes": [], "created": "2026-09-23T10:14:51.669Z", "modified": "2026-09-23T14:51:35.637Z"}, {"entity": "publication", "iuid": "be6db8cdc6054b1b8b4b6ac5ed169c13", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/be6db8cdc6054b1b8b4b6ac5ed169c13.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/be6db8cdc6054b1b8b4b6ac5ed169c13"}}, "title": "Defective membrane insertion of mutant Na,K\u2010ATPase, a cause of fatal epilepsy", "authors": [{"family": "Howard", "given": "Rebecca", "initials": "R", "orcid": "0000-0003-2049-3378", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5ce04593b5b24aaa8978fda1447dd0bf.json"}}, {"family": "Ygberg", "given": "Sofia", "initials": "S", "orcid": "0000-0002-3854-2716", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0b032359f6bf48be84cbb595142d9382.json"}}, {"family": "Andersson", "given": "Magnus", "initials": "M"}, {"family": "Akkuratov", "given": "Evgeny", "initials": "E", "orcid": "0000-0002-2552-9512", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/abd9e4662bb543eebb0451af868bc319.json"}}, {"family": "Jans", "given": "Daniel", "initials": "D", "orcid": "0000-0002-6356-9742", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9ff40f8719c944e6b0ff27ded3b05a27.json"}}, {"family": "Brismar", "given": "Hjalmar", "initials": "H", "orcid": "0000-0003-0578-4003", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/04321d9fb805493db538489927a42c8f.json"}}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}}, {"family": "Aperia", "given": "Anita", "initials": "A"}], "type": "journal-article", "published": "2020-04-00", "journal": {"title": "The FASEB Journal", "issn": "0892-6638", "volume": "34", "issue": "S1", "pages": "1-1", "issn-l": "0892-6638"}, "abstract": null, "doi": "10.1096/fasebj.2020.34.s1.05054", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T09:51:52.175Z", "modified": "2026-09-23T15:02:52.978Z"}, {"entity": "publication", "iuid": "3a06258fee124daf873a20ae441a72a8", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/3a06258fee124daf873a20ae441a72a8.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/3a06258fee124daf873a20ae441a72a8"}}, "title": "Correlative STED super-resolution light and electron microscopy on resin sections", "authors": [{"family": "Wurm", "given": "Christian A", "initials": "CA"}, {"family": "Schwarz", "given": "Heinz", "initials": "H"}, {"family": "Jans", "given": "Daniel C", "initials": "DC", "orcid": "0000-0002-6356-9742", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9ff40f8719c944e6b0ff27ded3b05a27.json"}}, {"family": "Riedel", "given": "Dietmar", "initials": "D"}, {"family": "Humbel", "given": "Bruno M", "initials": "BM"}, {"family": "Jakobs", "given": "Stefan", "initials": "S", "orcid": "0000-0002-8028-3121", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0e9f29133f814265b81c9763d0780b68.json"}}], "type": "journal-article", "published": "2019-09-11", "journal": {"title": "J. Phys. D: Appl. Phys.", "issn": "0022-3727", "volume": "52", "issue": "37", "pages": "374003", "issn-l": null}, "abstract": null, "doi": "10.1088/1361-6463/ab2b31", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-09-23T12:49:25.585Z", "modified": "2026-09-23T12:49:25.678Z"}, {"entity": "publication", "iuid": "5f2dde9c9b2a42ea9a2cc35bf973b0c2", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/5f2dde9c9b2a42ea9a2cc35bf973b0c2.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/5f2dde9c9b2a42ea9a2cc35bf973b0c2"}}, "title": "Multifocus structured illumination microscopy for fast volumetric super-resolution imaging.", "authors": [{"family": "Abrahamsson", "given": "Sara", "initials": "S"}, {"family": "Blom", "given": "Hans", "initials": "H"}, {"family": "Agostinho", "given": "Ana", "initials": "A", "orcid": "0000-0001-6270-7384", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/16a9e7e5cd0245db94d3b0fb0e1fd58a.json"}}, {"family": "Jans", "given": "Daniel C", "initials": "DC", "orcid": "0000-0002-6356-9742", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9ff40f8719c944e6b0ff27ded3b05a27.json"}}, {"family": "Jost", "given": "Aurelie", "initials": "A"}, {"family": "M\u00fcller", "given": "Marcel", "initials": "M"}, {"family": "Nilsson", "given": "Linnea", "initials": "L", "orcid": "0000-0001-7887-7978", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2270bd45d70049eabfee68d8df850fc6.json"}}, {"family": "Bernhem", "given": "Kristoffer", "initials": "K", "orcid": "0000-0003-3669-9848", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ba3c7a36a8204919a67539b8631ca566.json"}}, {"family": "Lambert", "given": "Talley J", "initials": "TJ"}, {"family": "Heintzmann", "given": "Rainer", "initials": "R"}, {"family": "Brismar", "given": "Hjalmar", "initials": "H", "orcid": "0000-0003-0578-4003", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/04321d9fb805493db538489927a42c8f.json"}}], "type": "journal article", "published": "2017-09-01", "journal": {"title": "Biomed Opt Express", "issn": "2156-7085", "volume": "8", "issue": "9", "pages": "4135-4140", "issn-l": "2156-7085"}, "abstract": "We here report for the first time the synergistic implementation of structured illumination microscopy (SIM) and multifocus microscopy (MFM). This imaging modality is designed to alleviate the problem of insufficient volumetric acquisition speed in super-resolution biological imaging. SIM is a wide-field super-resolution technique that allows imaging with visible light beyond the classical diffraction limit. Employing multifocus diffractive optics we obtain simultaneous wide-field 3D imaging capability in the SIM acquisition sequence, improving volumetric acquisition speed by an order of magnitude. Imaging performance is demonstrated on biological specimens.", "doi": "10.1364/BOE.8.004135", "pmid": "28966852", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC5611928"}, {"db": "pii", "key": "294866"}, {"db": "figshare", "key": "10.6084/m9.figshare.4928747"}], "notes": [], "created": "2018-12-05T12:09:26.279Z", "modified": "2026-09-23T14:53:58.516Z"}]}