A single amino acid deletion in the ER Ca

Mice Animals Membrane Proteins / metabolism Calcium Channels / metabolism Amino Acids / metabolism Mutation Endoplasmic Reticulum / metabolism Stromal Interaction Molecule 1 / genetics Calcium Release Activated Calcium Channels / genetics ORAI1 Protein / metabolism Calcium / metabolism

Journal

Science signaling
ISSN: 1937-9145
Titre abrégé: Sci Signal
Pays: United States
ID NLM: 101465400

Informations de publication

Date de publication:
07 02 2023
Historique:
entrez: 7 2 2023
pubmed: 8 2 2023
medline: 10 2 2023
Statut: ppublish

Résumé

Stormorken syndrome is a multiorgan hereditary disease caused by dysfunction of the endoplasmic reticulum (ER) Ca

Identifiants

DOI: 10.1126/scisignal.add0509 PMID: 36749824
pubmed: 36749824
doi: 10.1126/scisignal.add0509
doi:

Substances chimiques

Membrane Proteins 0
Calcium Channels 0
Amino Acids 0
Stromal Interaction Molecule 1 0
Calcium Release Activated Calcium Channels 0
ORAI1 Protein 0
Calcium SY7Q814VUP
Stim1 protein, mouse 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

eadd0509

Auteurs

Thilini H Gamage (TH)

Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.
ORCID: 0000-0003-1727-2451

Herwig Grabmayr (H)

Institute of Biophysics, Johannes Kepler University Linz, Gruberstrasse 40, 4020 Linz, Austria.
ORCID: 0000-0003-0870-5833

Ferdinand Horvath (F)

Institute of Theoretical Physics, Johannes Kepler University Linz, Altenbergerstrasse 69, 4040 Linz, Austria.
ORCID: 0000-0002-4441-3195

Marc Fahrner (M)

Institute of Biophysics, Johannes Kepler University Linz, Gruberstrasse 40, 4020 Linz, Austria.
ORCID: 0000-0002-2689-0158

Doriana Misceo (D)

Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.
ORCID: 0000-0002-6594-5801

William Edward Louch (WE)

Institute for Experimental Medical Research, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.
ORCID: 0000-0002-0511-6112

Gjermund Gunnes (G)

Faculty of Veterinary Medicine, Norwegian University of Life Sciences, 1430 Ås, Norway.
ORCID: 0000-0002-7900-1027

Helen Pullisaar (H)

Department of Biomaterials, Institute of Clinical Dentistry, University of Oslo, 0455 Oslo, Norway.
ORCID: 0000-0002-5117-4604

Janne Elin Reseland (JE)

Department of Biomaterials, Institute of Clinical Dentistry, University of Oslo, 0455 Oslo, Norway.
ORCID: 0000-0001-5743-4297

Staale Petter Lyngstadaas (SP)

Department of Biomaterials, Institute of Clinical Dentistry, University of Oslo, 0455 Oslo, Norway.
ORCID: 0000-0002-6361-7644

Asbjørn Holmgren (A)

Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.
ORCID: 0000-0003-1434-0957

Silja S Amundsen (SS)

Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.

Petr Rathner (P)

Institute of Organic Chemistry and Institute of Inorganic Chemistry, Johannes Kepler University Linz, Altenbergerstrasse 69, 4040 Linz, Austria.
Institut für Analytische Chemie, University of Vienna, Währinger Straße 38, 1090 Wien, Austria.

Linda Cerofolini (L)

Magnetic Resonance Center, University of Florence and Consorzio Interuniversitario Risonanze Magnetiche di Metalloproteine, 50019 Sesto Fiorentino, Italy.
ORCID: 0000-0002-0795-9594

Enrico Ravera (E)

Magnetic Resonance Center, University of Florence and Consorzio Interuniversitario Risonanze Magnetiche di Metalloproteine, 50019 Sesto Fiorentino, Italy.
Department of Chemistry, Ugo Schiff, University of Florence, 50019 Sesto Fiorentino, Italy.
ORCID: 0000-0001-7708-9208

Heinrich Krobath (H)

Institute of Theoretical Physics, Johannes Kepler University Linz, Altenbergerstrasse 69, 4040 Linz, Austria.
ORCID: 0000-0001-6473-8109

Claudio Luchinat (C)

Department of Chemistry, Ugo Schiff, University of Florence, 50019 Sesto Fiorentino, Italy.
CERM, University of Florence, 50019 Sesto Fiorentino, Italy.
ORCID: 0000-0003-2271-8921

Thomas Renger (T)

Institute of Theoretical Physics, Johannes Kepler University Linz, Altenbergerstrasse 69, 4040 Linz, Austria.
ORCID: 0000-0001-9245-3805

Norbert Müller (N)

Institute of Organic Chemistry and Institute of Inorganic Chemistry, Johannes Kepler University Linz, Altenbergerstrasse 69, 4040 Linz, Austria.
Department of Chemistry, Faculty of Science, University of South Bohemia, Branišovská 1645/31A, 370 05 České Budějovice, Czech Republic.
Institute of Biochemistry, Johannes Kepler University Linz, Altenbergerstrasse 69, 4040 Linz, Austria.
ORCID: 0000-0002-7621-3980

Christoph Romanin (C)

Institute of Biophysics, Johannes Kepler University Linz, Gruberstrasse 40, 4020 Linz, Austria.
ORCID: 0000-0003-3756-4136

Eirik Frengen (E)

Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.
ORCID: 0000-0002-8387-2247

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › A single amino acid deletion in the ER Ca
questionsmedicales.fr › Eucaryotes › Animaux › A single amino acid deletion in the ER Ca
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › A single amino acid deletion in the ER Ca
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux calciques › A single amino acid deletion in the ER Ca
questionsmedicales.fr › Acides aminés, peptides et protéines › Acides aminés › A single amino acid deletion in the ER Ca
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A single amino acid deletion in the ER Ca
questionsmedicales.fr › Cellules › Structures cellulaires › Espace intracellulaire › Cytoplasme › Structures cytoplasmiques › Organites › Réticulum endoplasmique › A single amino acid deletion in the ER Ca
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Molécules d'interaction stromale › Molécule-1 d'interaction stromale › A single amino acid deletion in the ER Ca
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux calciques › Canaux calciques activés par la libération de calcium › A single amino acid deletion in the ER Ca
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux calciques › Canaux calciques activés par la libération de calcium › Protéine ORAI1 › A single amino acid deletion in the ER Ca
questionsmedicales.fr › Facteurs biologiques › Facteurs de la coagulation sanguine › Calcium › A single amino acid deletion in the ER Ca