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  1. Article: ATP1A3

    Immanneni, Chetan / Calame, Daniel / Jiao, Song / Emrick, Lisa T / Holmgren, Miguel / Yano, Sho T

    Neurology. Genetics

    2024  Volume 10, Issue 3, Page(s) e200150

    Abstract: Background and objectives: Heterozygous pathogenic variants in : Methods: We describe the phenotype of an individual with de novo occurrence of a novel heterozygous : Results: The proband is a 7-year-old boy who has had 2 lifetime episodes of ... ...

    Abstract Background and objectives: Heterozygous pathogenic variants in
    Methods: We describe the phenotype of an individual with de novo occurrence of a novel heterozygous
    Results: The proband is a 7-year-old boy who has had 2 lifetime episodes of paroxysmal weakness, encephalopathy, and ataxia not triggered by fever. He had speech regression and intermittent hand tremors after the second episode but otherwise spontaneously recovered after episodes and is at present developmentally appropriate. The p.V130del variant was identified on clinical trio exome sequencing, which did not reveal any other variants possibly associated with the phenotype. p.V130del eliminated ATP1A3 function in cell survival complementation assay. In
    Discussion: This individual's phenotype expands the clinical spectrum of
    Language English
    Publishing date 2024-04-25
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2818607-2
    ISSN 2376-7839
    ISSN 2376-7839
    DOI 10.1212/NXG.0000000000200150
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  2. Article: Some aspects of the life of SARS-CoV-2 ORF3a protein in mammalian cells.

    Jiao, Song / Miranda, Pablo / Li, Yan / Maric, Dragan / Holmgren, Miguel

    Heliyon

    2023  Volume 9, Issue 8, Page(s) e18754

    Abstract: The accessory protein ORF3a, from SARS-CoV-2, plays a critical role in viral infection and pathogenesis. Here, we characterized ORF3a assembly, ion channel activity, subcellular localization, and interactome. At the plasma membrane, ORF3a exists mostly ... ...

    Abstract The accessory protein ORF3a, from SARS-CoV-2, plays a critical role in viral infection and pathogenesis. Here, we characterized ORF3a assembly, ion channel activity, subcellular localization, and interactome. At the plasma membrane, ORF3a exists mostly as monomers and dimers, which do not alter the native cell membrane conductance, suggesting that ORF3a does not function as a viroporin at the cell surface. As a membrane protein, ORF3a is synthesized at the ER and sorted via a canonical route. ORF3a overexpression induced an approximately 25% increase in cell death. By developing an APEX2-based proximity labeling assay, we uncovered proteins proximal to ORF3a, suggesting that ORF3a recruits some host proteins to weaken the cell. In addition, it exposed a set of mitochondria related proteins that triggered mitochondrial fission. Overall, this work can be an important instrument in understanding the role of ORF3a in the virus pathogenicity and searching for potential therapeutic treatments for COVID-19.
    Language English
    Publishing date 2023-08-01
    Publishing country England
    Document type Journal Article
    ZDB-ID 2835763-2
    ISSN 2405-8440
    ISSN 2405-8440
    DOI 10.1016/j.heliyon.2023.e18754
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  3. Article ; Online: Disease mutations of human α3 Na

    Moreno, Cristina / Jiao, Song / Yano, Sho / Holmgren, Miguel

    PNAS nexus

    2022  Volume 1, Issue 4, Page(s) pgac205

    Abstract: ... ...

    Abstract Na
    Language English
    Publishing date 2022-10-08
    Publishing country England
    Document type Journal Article
    ISSN 2752-6542
    ISSN (online) 2752-6542
    DOI 10.1093/pnasnexus/pgac205
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  4. Article ; Online: Molecular determinants for cold adaptation in an Antarctic Na

    Galarza-Muñoz, Gaddiel / Soto-Morales, Sonia I / Jiao, Song / Holmgren, Miguel / Rosenthal, Joshua J C

    Proceedings of the National Academy of Sciences of the United States of America

    2023  Volume 120, Issue 41, Page(s) e2301207120

    Abstract: Enzymes from ectotherms living in chronically cold environments have evolved structural innovations to overcome the effects of temperature on catalysis. Cold adaptation of soluble enzymes is driven by changes within their primary structure or the aqueous ...

    Abstract Enzymes from ectotherms living in chronically cold environments have evolved structural innovations to overcome the effects of temperature on catalysis. Cold adaptation of soluble enzymes is driven by changes within their primary structure or the aqueous milieu. For membrane-embedded enzymes, like the Na
    MeSH term(s) Acclimatization/genetics ; Amino Acids ; Antarctic Regions ; Lipid Bilayers ; Sodium-Potassium-Exchanging ATPase/metabolism ; Octopodiformes/enzymology ; Animals
    Chemical Substances Amino Acids ; Lipid Bilayers ; Sodium-Potassium-Exchanging ATPase (EC 7.2.2.13)
    Language English
    Publishing date 2023-10-02
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 209104-5
    ISSN 1091-6490 ; 0027-8424
    ISSN (online) 1091-6490
    ISSN 0027-8424
    DOI 10.1073/pnas.2301207120
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1148: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (1.OG)
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  5. Article ; Online: Deglycosylation of Shaker K

    Lopez-Rodriguez, Angelica / Holmgren, Miguel

    The Journal of general physiology

    2018  Volume 150, Issue 7, Page(s) 1025–1034

    Abstract: Most membrane proteins are subject to posttranslational glycosylation, which influences protein function, folding, solubility, stability, and trafficking. This modification has been proposed to protect proteins from proteolysis and modify protein-protein ...

    Abstract Most membrane proteins are subject to posttranslational glycosylation, which influences protein function, folding, solubility, stability, and trafficking. This modification has been proposed to protect proteins from proteolysis and modify protein-protein interactions. Voltage-activated ion channels are heavily glycosylated, which can result in up to 30% of the mature molecular mass being contributed by glycans. Normally, the functional consequences of glycosylation are assessed by comparing the function of fully glycosylated proteins with those in which glycosylation sites have been mutated or by expressing proteins in model cells lacking glycosylation enzymes. Here, we study the functional consequences of deglycosylation by PNGase F within the same population of voltage-activated potassium (K
    MeSH term(s) Animals ; Glycosylation ; Ion Channel Gating ; Membrane Potentials ; Mice ; Protein Domains ; Protein Processing, Post-Translational ; Shaker Superfamily of Potassium Channels/chemistry ; Shaker Superfamily of Potassium Channels/metabolism ; Xenopus
    Chemical Substances Shaker Superfamily of Potassium Channels
    Language English
    Publishing date 2018-06-07
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Intramural
    ZDB-ID 3118-5
    ISSN 1540-7748 ; 0022-1295
    ISSN (online) 1540-7748
    ISSN 0022-1295
    DOI 10.1085/jgp.201711958
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  6. Article ; Online: Comparative description of the mRNA expression profile of Na

    Jiao, Song / Johnson, Kory / Moreno, Cristina / Yano, Sho / Holmgren, Miguel

    The Journal of comparative neurology

    2021  Volume 530, Issue 3, Page(s) 627–647

    Abstract: Mutations in genes encoding ... ...

    Abstract Mutations in genes encoding Na
    MeSH term(s) Animals ; Membrane Proteins/metabolism ; Mice ; Nerve Tissue Proteins/metabolism ; Neurons/metabolism ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Protein Serine-Threonine Kinases ; RNA, Messenger/metabolism ; Receptors, Cell Surface/metabolism ; Sodium/metabolism ; Sodium-Potassium-Exchanging ATPase/genetics ; Sodium-Potassium-Exchanging ATPase/metabolism
    Chemical Substances Kirrel3 protein, mouse ; Membrane Proteins ; Nerve Tissue Proteins ; Protein Isoforms ; RNA, Messenger ; Receptors, Cell Surface ; Sorcs3 protein, mouse ; Sodium (9NEZ333N27) ; Snrk protein, mouse (EC 2.7.1.-) ; Protein Serine-Threonine Kinases (EC 2.7.11.1) ; Sodium-Potassium-Exchanging ATPase (EC 7.2.2.13)
    Language English
    Publishing date 2021-09-15
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Intramural
    ZDB-ID 3086-7
    ISSN 1096-9861 ; 0021-9967 ; 0092-7317
    ISSN (online) 1096-9861
    ISSN 0021-9967 ; 0092-7317
    DOI 10.1002/cne.25234
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    Ub I Zs.66: Show issues Location:
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  7. Article ; Online: Transient Electrical Currents Mediated by the Na

    Moreno, Cristina / Yano, Sho / Bezanilla, Francisco / Latorre, Ramon / Holmgren, Miguel

    Biophysical journal

    2020  Volume 119, Issue 2, Page(s) 236–242

    Abstract: ... The ... ...

    Abstract The Na
    MeSH term(s) Biophysics ; Humans ; Ions/metabolism ; Kinetics ; Potassium/metabolism ; Sodium/metabolism ; Sodium-Potassium-Exchanging ATPase/metabolism
    Chemical Substances Ions ; Sodium (9NEZ333N27) ; Sodium-Potassium-Exchanging ATPase (EC 7.2.2.13) ; Potassium (RWP5GA015D)
    Language English
    Publishing date 2020-06-12
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 218078-9
    ISSN 1542-0086 ; 0006-3495
    ISSN (online) 1542-0086
    ISSN 0006-3495
    DOI 10.1016/j.bpj.2020.06.006
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 235: Show issues Location:
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    Zs.MO 2: Show issues

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  8. Article ; Online: Voltage-dependent dynamics of the BK channel cytosolic gating ring are coupled to the membrane-embedded voltage sensor.

    Miranda, Pablo / Holmgren, Miguel / Giraldez, Teresa

    eLife

    2018  Volume 7

    Abstract: In humans, large conductance voltage- and calcium-dependent potassium (BK) channels are regulated allosterically by transmembrane voltage and intracellular ... ...

    Abstract In humans, large conductance voltage- and calcium-dependent potassium (BK) channels are regulated allosterically by transmembrane voltage and intracellular Ca
    MeSH term(s) Allosteric Regulation ; Animals ; Bacterial Proteins/genetics ; Bacterial Proteins/metabolism ; Binding Sites ; Calcium/metabolism ; Cell Membrane/metabolism ; Cytosol/metabolism ; Fluorescence Resonance Energy Transfer ; Gene Expression ; Genes, Reporter ; Green Fluorescent Proteins/genetics ; Green Fluorescent Proteins/metabolism ; Humans ; Ion Channel Gating/physiology ; Large-Conductance Calcium-Activated Potassium Channels/genetics ; Large-Conductance Calcium-Activated Potassium Channels/metabolism ; Luminescent Proteins/genetics ; Luminescent Proteins/metabolism ; Membrane Potentials/physiology ; Mutation ; Oocytes/cytology ; Oocytes/metabolism ; Patch-Clamp Techniques ; Plasmids/chemistry ; Plasmids/metabolism ; Potassium/metabolism ; Protein Binding ; Recombinant Proteins/genetics ; Recombinant Proteins/metabolism ; Xenopus laevis
    Chemical Substances Bacterial Proteins ; Cyan Fluorescent Protein ; Large-Conductance Calcium-Activated Potassium Channels ; Luminescent Proteins ; Recombinant Proteins ; yellow fluorescent protein, Bacteria ; Green Fluorescent Proteins (147336-22-9) ; Potassium (RWP5GA015D) ; Calcium (SY7Q814VUP)
    Language English
    Publishing date 2018-12-11
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2687154-3
    ISSN 2050-084X ; 2050-084X
    ISSN (online) 2050-084X
    ISSN 2050-084X
    DOI 10.7554/eLife.40664
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  9. Article ; Online: Independent movement of the voltage sensors in K

    Bocksteins, Elke / Snyders, Dirk J / Holmgren, Miguel

    Scientific reports

    2017  Volume 7, Page(s) 41646

    Abstract: Heterotetramer voltage-gated ... ...

    Abstract Heterotetramer voltage-gated K
    MeSH term(s) Amino Acid Sequence ; Cell Line ; Cells, Cultured ; Humans ; Ion Channel Gating ; Membrane Potentials ; Protein Multimerization ; Protein Subunits ; Shab Potassium Channels/chemistry ; Shab Potassium Channels/genetics ; Shab Potassium Channels/metabolism
    Chemical Substances Protein Subunits ; Shab Potassium Channels
    Language English
    Publishing date 2017-01-31
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/srep41646
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  10. Article ; Online: Regulation of Ion Channel and Transporter Function Through RNA Editing.

    Holmgren, Miguel / Rosenthal, Joshua J C

    Current issues in molecular biology

    2014  Volume 17, Page(s) 23–36

    Abstract: A large proportion of the recoding events mediated by RNA editing are in mRNAs that encode ion channels and transporters. The effects of these events on protein function have been characterized in only a few cases. In even fewer instances are the ... ...

    Abstract A large proportion of the recoding events mediated by RNA editing are in mRNAs that encode ion channels and transporters. The effects of these events on protein function have been characterized in only a few cases. In even fewer instances are the mechanistic underpinnings of these effects understood. This review focuses on how RNA editing affects protein function and higher order physiology. In mammals, particular attention is given to the GluA2, an ionotropic glutamate receptor subunit, and K(v) 1.1, a voltage-dependent K+ channel, because they are particularly well understood. In K(v) addition, work on cephalopod K+ channels and Na+/K+-ATPases has also provided important clues on the rules used by RNA editing to regulate excitability. Finally, we discuss some of the emerging targets for editing and how this process may be used to regulate nervous function in response to a variable environment.
    MeSH term(s) Animals ; Gene Expression Regulation ; Humans ; Ion Channels/chemistry ; Ion Channels/genetics ; Ion Channels/metabolism ; Ion Pumps/chemistry ; Ion Pumps/genetics ; Ion Pumps/metabolism ; RNA Editing ; Receptors, Glutamate/chemistry ; Receptors, Glutamate/genetics ; Receptors, Glutamate/metabolism ; Synaptic Transmission
    Chemical Substances Ion Channels ; Ion Pumps ; Receptors, Glutamate
    Language English
    Publishing date 2014-10-27
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2000024-8
    ISSN 1467-3045 ; 1467-3037
    ISSN (online) 1467-3045
    ISSN 1467-3037
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    Zs.A 5122: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
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