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Academic Journal

Dual role of the S5 segment in type 1 ryanodine receptor channel gating.

  • Authors : Murayama T; Department of Cellular and Molecular Pharmacology, Juntendo University Graduate School of Medicine, Tokyo, 113-8421, Japan. .; Otori Y

Subjects: Ryanodine Receptor Calcium Release Channel*/Ryanodine Receptor Calcium Release Channel*/Ryanodine Receptor Calcium Release Channel*/metabolism ; Ryanodine Receptor Calcium Release Channel*/Ryanodine Receptor Calcium Release Channel*/Ryanodine Receptor Calcium Release Channel*/genetics ; Ion Channel Gating*

  • Source: Communications biology [Commun Biol] 2024 Sep 18; Vol. 7 (1), pp. 1108. Date of Electronic Publication: 2024 Sep 18.Publisher: Nature Publishing Group UK Country of Publication: England NLM ID: 101719179 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Modified N-linked glycosylation status predicts trafficking defective human Piezo1 channel mutations.

  • Authors : Li JV; Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Sydney, Australia.; Ng CA

Subjects: Ion Channel Gating* ; Mechanotransduction, Cellular* ; Mutation*

  • Source: Communications biology [Commun Biol] 2021 Sep 06; Vol. 4 (1), pp. 1038. Date of Electronic Publication: 2021 Sep 06.Publisher: Nature Publishing Group UK Country of Publication: England NLM ID: 101719179 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K V 4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.

  • Authors : Zanni G; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, B. Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.; Hsiao CT

Subjects: Ion Channel Gating*; Mutation/Mutation/Mutation/*genetics ; Shal Potassium Channels/Shal Potassium Channels/Shal Potassium Channels/*genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2021 May 07; Vol. 22 (9). Date of Electronic Publication: 2021 May 07.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.

  • Authors : Zhao J; Department of Physics, Université de Montréal, Montréal, QC H3C 3J7, Canada.; Petitjean D

Subjects: Ion Channel Gating* ; Mutation*; Ataxia/Ataxia/Ataxia/*genetics Episodic Ataxia, Type 1

  • Source: International journal of molecular sciences [Int J Mol Sci] 2020 Oct 14; Vol. 21 (20). Date of Electronic Publication: 2020 Oct 14.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Identification of a proton sensor that regulates conductance and open time of single hERG channels.

  • Authors : Wilson SL; School of Physiology, Pharmacology & Neuroscience, University of Bristol, Bristol, BS8 1TD, UK.; Covance, Wooley Road, Alconbury, Huntingdon, Cambridgeshire, PE28 4HS, UK.

Subjects: Mutation* ; Protons*; ERG1 Potassium Channel/ERG1 Potassium Channel/ERG1 Potassium Channel/*genetics

  • Source: Scientific reports [Sci Rep] 2019 Dec 27; Vol. 9 (1), pp. 19825. Date of Electronic Publication: 2019 Dec 27.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Activation Stoichiometry and Pore Architecture of TRPA1 Probed with Channel Concatemers.

  • Authors : Ye W; Department of Biological Sciences, University of Southern California, Los Angeles, CA, 90089, USA. .; Department of Physiology, University of California, San Francisco, CA, 94158, USA. .

Subjects: Ion Channel Gating* ; Mutation*; Aspartic Acid/Aspartic Acid/Aspartic Acid/*metabolism

  • Source: Scientific reports [Sci Rep] 2018 Nov 20; Vol. 8 (1), pp. 17104. Date of Electronic Publication: 2018 Nov 20.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Integrative Study of the Structural and Dynamical Properties of a KirBac3.1 Mutant: Functional Implication of a Highly Conserved Tryptophan in the Transmembrane Domain.

  • Authors : Fagnen C; IMPMC, UMR 7590, CNRS, Muséum National d'Histoire Naturelle, Sorbonne Université, 75005 Paris, France.; Laboratoire de Biologie et Pharmacologie Appliquée, Ecole Normale Supérieure Paris-Saclay, 4 Ave. des Sciences, 91190 Gif-sur-Yvette, France.

Subjects: Conserved Sequence*; Mutation/Mutation/Mutation/*genetics ; Potassium Channels, Inwardly Rectifying/Potassium Channels, Inwardly Rectifying/Potassium Channels, Inwardly Rectifying/*chemistry

  • Source: International journal of molecular sciences [Int J Mol Sci] 2021 Dec 29; Vol. 23 (1). Date of Electronic Publication: 2021 Dec 29.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.

  • Authors : Pattnaik BR; Department of Pediatrics, University of Wisconsin, Madison, Wisconsin, United States of America ; Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, United States of America

Subjects: Mutation/Mutation/Mutation/*genetics ; Potassium Channels, Inwardly Rectifying/Potassium Channels, Inwardly Rectifying/Potassium Channels, Inwardly Rectifying/*chemistry ; Potassium Channels, Inwardly Rectifying/Potassium Channels, Inwardly Rectifying/Potassium Channels, Inwardly Rectifying/*genetics Snowflake vitreoretinal degeneration

  • Source: PloS one [PLoS One] 2013 Aug 19; Vol. 8 (8), pp. e71744. Date of Electronic Publication: 2013 Aug 19 (Print Publication: 2013).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Modeling NaV1.1/SCN1A sodium channel mutations in a microcircuit with realistic ion concentration dynamics suggests differential GABAergic mechanisms leading to hyperexcitability in epilepsy and hemiplegic migraine.

  • Authors : Lemaire L; Inria Sophia Antipolis Méditerranée Research Centre, MathNeuro Team, Valbonne-Sophia Antipolis, France.; Université Côte d'Azur, Nice, France.

Subjects: Models, Neurological* ; Mutation*; Epilepsy/Epilepsy/Epilepsy/*genetics Migraine, Familial Hemiplegic, 3

  • Source: PLoS computational biology [PLoS Comput Biol] 2021 Jul 27; Vol. 17 (7), pp. e1009239. Date of Electronic Publication: 2021 Jul 27 (Print Publication: 2021).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238922 Publication Model: eCollection Cited Medium: Internet

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