Nicole Schmitt

Summary

Affiliation: University of Copenhagen
Country: Denmark

Publications

  1. ncbi request reprint Long QT 1 mutation KCNQ1A344V increases local anesthetic sensitivity of the slowly activating delayed rectifier potassium current
    Cornelia C Siebrands
    Department of Anesthesiology, University Medical Center Hamburg Eppendorf, Germany
    Anesthesiology 105:511-20. 2006
  2. ncbi request reprint The novel C-terminal KCNQ1 mutation M520R alters protein trafficking
    Nicole Schmitt
    Department of Biomedical Sciences, The Danish National Research Foundation Centre for Cardiac Arrhythmia, The Panum Institute, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark
    Biochem Biophys Res Commun 358:304-10. 2007
  3. doi request reprint Genetic modifier of the QTc interval associated with early-onset atrial fibrillation
    Laura Andreasen
    Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark Laboratory for Molecular Cardiology, Rigshospitalet, Copenhagen, Denmark The Ion Channel Group, Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark
    Can J Cardiol 29:1234-40. 2013
  4. doi request reprint A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation
    Morten Salling Olesen
    The Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark
    Cardiovasc Res 98:488-95. 2013
  5. ncbi request reprint KCNQ1 mutation Q147R is associated with atrial fibrillation and prolonged QT interval
    Alicia Lundby
    Danish National Research Foundation Centre for Cardiac Arrhythmia, Department of Biomedical Sciences, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Heart Rhythm 4:1532-41. 2007
  6. ncbi request reprint Investigations of the Navβ1b sodium channel subunit in human ventricle; functional characterization of the H162P Brugada syndrome mutant
    Lei Yuan
    Danish National Research Foundation Centre for Cardiac Arrhythmia DARC, Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
    Am J Physiol Heart Circ Physiol 306:H1204-12. 2014
  7. pmc Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation
    Morten S Olesen
    The Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark
    BMC Med Genet 13:24. 2012
  8. ncbi request reprint Modulation of ERG channels by XE991
    Pernille Elmedyb
    Department of Medical Physiology, The Panum Institute, The University of Copenhagen, Denmark
    Basic Clin Pharmacol Toxicol 100:316-22. 2007
  9. doi request reprint Trafficking of the IKs -complex in MDCK cells: site of subunit assembly and determinants of polarized localization
    Jens Peter David
    The Ion Channel Group, Danish National Foundation Centre for Cardiac Arrhythmia, Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2200, Denmark
    Traffic 14:399-411. 2013
  10. ncbi request reprint Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome
    Kirstine Calloe
    Danish National Research Foundation Centre for Cardiac Arrhythmia and Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
    Circ Arrhythm Electrophysiol 6:177-84. 2013

Collaborators

Detail Information

Publications30

  1. ncbi request reprint Long QT 1 mutation KCNQ1A344V increases local anesthetic sensitivity of the slowly activating delayed rectifier potassium current
    Cornelia C Siebrands
    Department of Anesthesiology, University Medical Center Hamburg Eppendorf, Germany
    Anesthesiology 105:511-20. 2006
    ..CONCLUSIONS: The results indicate that certain forms of the LQTS may constitute a specific pharmacogenetic risk factor for regional anesthesia...
  2. ncbi request reprint The novel C-terminal KCNQ1 mutation M520R alters protein trafficking
    Nicole Schmitt
    Department of Biomedical Sciences, The Danish National Research Foundation Centre for Cardiac Arrhythmia, The Panum Institute, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark
    Biochem Biophys Res Commun 358:304-10. 2007
    ..These results indicate that the LQT1 mutation M520R leads to ER-retention and dysfunctional trafficking of the mutant channel resulting in haploinsufficiency...
  3. doi request reprint Genetic modifier of the QTc interval associated with early-onset atrial fibrillation
    Laura Andreasen
    Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark Laboratory for Molecular Cardiology, Rigshospitalet, Copenhagen, Denmark The Ion Channel Group, Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark
    Can J Cardiol 29:1234-40. 2013
    ..We investigated whether 8 single nucleotide polymorphisms (SNPs) at loci previously shown to affect QTc interval duration were associated with lone AF...
  4. doi request reprint A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation
    Morten Salling Olesen
    The Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark
    Cardiovasc Res 98:488-95. 2013
    ..Here we aim to determine if mutations in KV4.3 or in the auxiliary subunit K(+) Channel-Interacting Protein (KChIP) 2 are associated with early-onset lone AF...
  5. ncbi request reprint KCNQ1 mutation Q147R is associated with atrial fibrillation and prolonged QT interval
    Alicia Lundby
    Danish National Research Foundation Centre for Cardiac Arrhythmia, Department of Biomedical Sciences, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Heart Rhythm 4:1532-41. 2007
    ..Atrial fibrillation (AF) and long QT syndrome (LQTS) are cardiac arrhythmia disorders that have been related to dysfunction of the voltage-gated potassium channel subunit Kv7.1 encoded by the KCNQ1 gene...
  6. ncbi request reprint Investigations of the Navβ1b sodium channel subunit in human ventricle; functional characterization of the H162P Brugada syndrome mutant
    Lei Yuan
    Danish National Research Foundation Centre for Cardiac Arrhythmia DARC, Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
    Am J Physiol Heart Circ Physiol 306:H1204-12. 2014
    ..This result is an important replication to support the notion that BrS can be linked to the function of Navβ1b and is associated with loss-of-function of the cardiac sodium channel...
  7. pmc Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation
    Morten S Olesen
    The Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark
    BMC Med Genet 13:24. 2012
    ..Gain-of-function mutations in KV7.1, the pore-forming α-subunit of the IKs channel, have been associated with AF. We hypothesized that early-onset lone AF is associated with mutations in the IKs channel regulatory subunit KCNE1...
  8. ncbi request reprint Modulation of ERG channels by XE991
    Pernille Elmedyb
    Department of Medical Physiology, The Panum Institute, The University of Copenhagen, Denmark
    Basic Clin Pharmacol Toxicol 100:316-22. 2007
    ..In conclusion, great care should be taken when choosing the concentration of XE991 to use for experiments on native potassium channels or animal studies in order to be able to conclude on selective KCNQ channel-mediated effects...
  9. doi request reprint Trafficking of the IKs -complex in MDCK cells: site of subunit assembly and determinants of polarized localization
    Jens Peter David
    The Ion Channel Group, Danish National Foundation Centre for Cardiac Arrhythmia, Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2200, Denmark
    Traffic 14:399-411. 2013
    ..1 can be localized apically or basolaterally in different epithelial tissues and offer a solution to divergent literature results regarding the effect of KCNE subunits on the subcellular localization of KV 7.1/KCNE complexes...
  10. ncbi request reprint Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome
    Kirstine Calloe
    Danish National Research Foundation Centre for Cardiac Arrhythmia and Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
    Circ Arrhythm Electrophysiol 6:177-84. 2013
    ..5 are associated with Brugada syndrome. We found novel mutations in SCN5A in 2 different families diagnosed with Brugada syndrome and investigated how those affected Na(V)1.5 channel function...
  11. doi request reprint Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation
    Morten S Olesen
    Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark Laboratory for Molecular Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark Electronic address
    Heart Rhythm 11:246-51. 2014
    ..Atrial fibrillation (AF) is the most common cardiac arrhythmia. Currently, 14 genes important for ion channel function, intercellular signaling, and homeostatic control have been associated with AF...
  12. doi request reprint Genetic variation in KCNA5: impact on the atrial-specific potassium current IKur in patients with lone atrial fibrillation
    Ingrid E Christophersen
    Danish National Research Foundation Centre for Cardiac Arrhythmia and Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3, Copenhagen N, Denmark
    Eur Heart J 34:1517-25. 2013
    ..Three studies have identified loss-of-function mutations in KCNA5 in patients with idiopathic AF. We hypothesized that early-onset lone AF is associated with high prevalence of genetic variants in KCNA5 and KCNAB2...
  13. ncbi request reprint Functional properties of human neuronal Kv11 channels
    Karoline Einarsen
    The Danish National Research Foundation Centre for Cardiac Arrhythmia, Department of Biomedical Sciences, The Panum Institute, University of Copenhagen, Blegdamsvej 3, 2200, Copenhagen N, Denmark
    Pflugers Arch 458:689-700. 2009
    ..The different current characteristics of the isoforms presented in this work may contribute to the regulation of neuronal excitability...
  14. pmc Specific sorting and post-Golgi trafficking of dendritic potassium channels in living neurons
    Camilla Stampe Jensen
    From the Department of Biomedical Sciences, University of Copenhagen, Blegdamsvej 3, DK 2200 Copenhagen N, Denmark
    J Biol Chem 289:10566-81. 2014
    ..1 trafficking. These findings reveal that the sorting of ion channels at the Golgi apparatus and their subsequent trafficking by unique molecular mechanisms are crucial for their specific localizations within dendrites. ..
  15. doi request reprint KCNE3 mutation V17M identified in a patient with lone atrial fibrillation
    Alicia Lundby
    The Danish National Research Foundation Centre for Cardiac Arrhythmia, The Panum Institute, University of Copenhagen, Copenhagen N, Denmark
    Cell Physiol Biochem 21:47-54. 2008
    ..In this study we aim for the functional assessment of a mutation in KCNE3 identified in a proband with early-onset lone AF...
  16. ncbi request reprint Requirement of subunit co-assembly and ankyrin-G for M-channel localization at the axon initial segment
    Hanne B Rasmussen
    Department of Medical Physiology, The Panum Institute, University of Copenhagen, Blegdamsvej 3, DK 2200 Copenhagen N, Denmark
    J Cell Sci 120:953-63. 2007
    ..By contrast, deletion of the ankyrin-G-binding motif in KCNQ3 significantly reduces AIS enrichment of the complex, implicating KCNQ3 as a major determinant of M channel localization to the AIS...
  17. ncbi request reprint Characterizations of a loss-of-function mutation in the Kir3.4 channel subunit
    Kirstine Calloe
    The Danish National Research Foundation Centre for Cardiac Arrhythmia, Department of Biomedical Sciences, 12 5 10, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark
    Biochem Biophys Res Commun 364:889-95. 2007
    ..4-G247R is compensated in vivo. This may explain the lack of clear clinical manifestations and further studies are necessary to elucidate if mutations in Kir3.4 are predisposing AF...
  18. ncbi request reprint The acrylamide (S)-1 differentially affects Kv7 (KCNQ) potassium channels
    Bo Hjorth Bentzen
    The Danish National Research Foundation Centre for Cardiac Arrhythmia and Department of Medical Physiology, The Panum Institute, University of Copenhagen, Blegdamsvej 3, DK 2200 Copenhagen N, Denmark
    Neuropharmacology 51:1068-77. 2006
    ..In conclusion, (S)-1 differentially affects the Kv7 channel subtypes and is dependent on a single tryptophan for the current enhancing effect in Kv7.4...
  19. doi request reprint Genetic variation in the two-pore domain potassium channel, TASK-1, may contribute to an atrial substrate for arrhythmogenesis
    Bo Liang
    Danish National Research Foundation Centre for Cardiac Arrhythmia, University of Copenhagen, Copenhagen, Denmark
    J Mol Cell Cardiol 67:69-76. 2014
    ....
  20. pmc Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A
    Kirstine Calloe
    Danish National Research Foundation Centre for Cardiac Arrhythmia, Department of Biomedical Sciences, University of Copenhagen, Blegdamsvej 3, DK 2200 Copenhagen N, Denmark
    Can J Physiol Pharmacol 89:723-36. 2011
    ..Mutations in the SCN5A gene have been linked to Brugada syndrome (BrS), conduction disease, Long QT syndrome (LQT3), atrial fibrillation (AF), and to pre- and neonatal ventricular arrhythmias...
  21. ncbi request reprint KCNQ channels are involved in the regulatory volume decrease response in primary neonatal rat cardiomyocytes
    Kirstine Calloe
    The Danish National Research Foundation Centre for Cardiac Arrhythmia and Department of Biomedical Sciences, The Panum Institute, Blegdamsvej 3, DK 2200 Copenhagen N, Denmark
    Biochim Biophys Acta 1773:764-73. 2007
    ....
  22. pmc Structural basis for K(V)7.1-KCNE(x) interactions in the I(Ks) channel complex
    Alicia Lundby
    Danish National Research Foundation Centre for Cardiac Arrhythmia, Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark
    Heart Rhythm 7:708-13. 2010
    ..Here we review recent studies in this area and discuss potential roles for multiple KCNE(x) subunits in I(Ks) generation and modulation as well as the clinical relevance of the new information...
  23. ncbi request reprint Functional assessment of compound mutations in the KCNQ1 and KCNH2 genes associated with long QT syndrome
    Morten Grunnet
    Department of Medical Physiology, The Panum Institute, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark
    Heart Rhythm 2:1238-49. 2005
    ..We investigated the clinical and electrophysiologic phenotype of individual mutations and the compound mutations in a family in which different genotypes could be found...
  24. ncbi request reprint Mutations in the Kv1.5 channel gene KCNA5 in cardiac arrest patients
    Nathalie H Nielsen
    Copenhagen Heart Arrhythmia Research Centre, Panum Institute, University of Copenhagen, Denmark
    Biochem Biophys Res Commun 354:776-82. 2007
    ..5 mutations did not show any apparent electrophysiological phenotype, it is possible that they may influence other cellular mechanisms responsible for proper electrical behaviour of native cardiomyocytes...
  25. doi request reprint In vivo phosphoproteomics analysis reveals the cardiac targets of β-adrenergic receptor signaling
    Alicia Lundby
    Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3b, DK 2200 Copenhagen, Denmark
    Sci Signal 6:rs11. 2013
    ....
  26. pmc KCNQ1 channels sense small changes in cell volume
    Morten Grunnet
    Department of Medical Physiology, The Panum Institute, University of Copenhagen, Blegdamsvej 3, DK 2200 Copenhagen N, Denmark
    J Physiol 549:419-27. 2003
    ..From our results we propose that KCNQ1 and KCNQ4 channels play an important role in cell volume control, e.g. during transepithelial transport of salt and water...
  27. doi request reprint Contribution of Kv7 channels to basal coronary flow and active response to ischemia
    Saereh Khanamiri
    Department of Biomedical Sciences, Faculty of Health and Medical Sciences, Danish National Research Foundation Centre for Cardiac Arrhythmia, The Panum Institute, University of Copenhagen, 12 5 14, Blegdamsvej 3, 2200 Copenhagen N, Denmark
    Hypertension 62:1090-7. 2013
    ..Kv7 blockers also attenuated the ischemia-induced increase in coronary perfusion in Langendorff studies. Overall, these data establish Kv7 channels as crucial regulators of coronary flow at resting and after hypoxic insult. ..
  28. pmc Phosphorylation of connexin43 on serine 306 regulates electrical coupling
    Kristina Procida
    Danish National Research Foundation Centre for Cardiac Arrhythmia at Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark
    Heart Rhythm 6:1632-8. 2009
    ..Three new phosphorylation sites (S296, S297, S306) have been identified on Cx43; two of these sites (S297 and S306) are dephosphorylated during ischemia. The functional significance of these new sites is currently unknown...
  29. ncbi request reprint Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations
    Liora Shamgar
    Department of Physiology and Pharmacology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Circ Res 98:1055-63. 2006
    ....
  30. ncbi request reprint Local anesthetic interaction with human ether-a-go-go-related gene (HERG) channels: role of aromatic amino acids Y652 and F656
    Cornelia C Siebrands
    Department of Anesthesiology and Institute for Neural Signal Transduction, Hamburg, Germany
    Anesthesiology 103:102-12. 2005
    ..The aim of this study was to determine the effect of the mutations Y652A and F656A in the putative drug binding region of HERG on the inhibition by bupivacaine, ropivacaine, and mepivacaine...