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Publication
Property Value
Working Groups RG Cyganek, RG Hasenfuß, RG Wollnik, RG Zimmermann
Subproject None
Open Access Open Access  Yes
Publication Type Journal Article
Peer Reviewed Yes
PMID PubMed ID  39003740
DOI DOI  10.1016/j.celrep.2024.114448
Publication Year 2024
Title Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome
Journal Cell Reports
ISSN 2211-1247
eISSN 2211-1247
URL  http://dx.doi.org/10.1016/j.celrep.2024.114448
Pages 114448
Issue 7
Volume 43
Journal Abbreviation Cell Rep
Authors Busley AV, Gutiérrez-Gutiérrez O, Hammer E, Koitka F, Mirzaiebadizi A, Steinegger M, Pape C, Böhmer L, Schroeder H, Kleinsorge M, Engler M, Cirstea IC, Gremer L, Willbold D, Altmüller J, Marbach F, Hasenfuss G, Zimmermann WH, Reza Ahmadian M, Wollnik B, Cyganek L
First Author Busley AV
Last Author Cyganek L

 External Resources

 12259 Addgene identifier (12259, reused)

 12260 Addgene identifier (12260, reused)

 13512 Addgene identifier (13512, reused)

 90227 Addgene identifier (90227, reused)

 cell.com...0777-0 Article fulltext

 sfb1002....ine=16 Cell Model Catalogue (UMGi014-C)

 sfb1002....ine=29 Cell Model Catalogue (UMGi130-A)

 sfb1002....ine=50 Cell Model Catalogue (UMGi137-A)

 sfb1002....ne=450 Cell Model Catalogue (UMGi137-A-1)

 9606 NCBI taxonomy (human, Homo sapiens)

 0000-0002-5036-0093 ORCID identifier (Alexandra Viktoria Busley)

 0000-0002-1507-0402 ORCID identifier (Elke Hammer)

 0009-0007-5226-9676 ORCID identifier (Fabian Koitka)

 0000-0002-3340-586X ORCID identifier (Amin Mirzaiebadizi)

 0000-0001-6562-7187 ORCID identifier (Constantin Pape)

 0000-0001-7184-5770 ORCID identifier (Mandy Kleinsorge)

 0000-0002-5018-4712 ORCID identifier (Melanie Engler)

 0000-0003-3204-1598 ORCID identifier (Ion Cristian Cirstea)

 0000-0001-7065-5027 ORCID identifier (Lothar Gremer)

 0000-0002-0065-7366 ORCID identifier (Dieter Willbold)

 0000-0003-4372-1521 ORCID identifier (Janine Altmüller)

 0000-0003-3953-6235 ORCID identifier (Felix Marbach)

 0000-0002-5942-361X ORCID identifier (Gerd Hasenfuß)

 0000-0003-1190-4040 ORCID identifier (Wolfram Hubertus Zimmermann)

 0000-0002-2034-8894 ORCID identifier (Mohammad Reza Ahmadian)

 0000-0003-2589-0364 ORCID identifier (Bernd Wollnik)

 0000-0001-9120-1382 ORCID identifier (Lukas Cyganek)

 PXD038417 Pride proteome dataset (PXD038417)

 PXD038425 Pride proteome dataset (PXD038425)

 535 Published Data Registry entry (CRC 1002)

 646 Published Data Registry entry (MBExC, preprint)

 1/482 Research Data Archive (supplemental material)

 02nv7yv05 ROR identifier (02nv7yv05, Forschungszentrum Jülich)

 01s1h3j07 ROR identifier (01s1h3j07, Fraunhofer Institute for Translational Medicine and Pharmacology)

 031t5w623 ROR identifier (031t5w623, German Centre for Cardiovascular Research)

 038t36y30 ROR identifier (038t36y30, Heidelberg University)

 024z2rq82 ROR identifier (024z2rq82, Heinrich Heine University Düsseldorf)

 04p5ggc03 ROR identifier (04p5ggc03, Max Delbrück Center for Molecular Medicine)

 03av75f26 ROR identifier (03av75f26, Max Planck Institute for Multidisciplinary Sciences)

 05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)

 04h9pn542 ROR identifier (04h9pn542, Seoul National University)

 032000t02 ROR identifier (032000t02, Universität Ulm)

 05mxhda18 ROR identifier (05mxhda18, University Hospital Cologne)

 021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)

 01y9bpm73 ROR identifier (01y9bpm73, University of Göttingen)

 00r1edq15 ROR identifier (00r1edq15, University of Greifswald)

 CVCL_D615 SciCrunch identifier (RRID:CVCL_D615, Expi293F)

 CVCL_0063 SciCrunch identifier (RRID:CVCL_0063, HEK293T)

 CVCL_3285 SciCrunch identifier (RRID:CVCL_3285, HFF-1)

 SCR_023662 SciCrunch identifier (RRID:SCR_023662, AlphaFold Protein Structure Database)

 SCR_019690 SciCrunch identifier (RRID:SCR_019690, Bio-Rad Chemidoc XRS Gel Imaging System)

 SCR_007358 SciCrunch identifier (RRID:SCR_007358, CellProfiler)

 SCR_015935 SciCrunch identifier (RRID:SCR_015935, CRISPOR)

 SCR_010973 SciCrunch identifier (RRID:SCR_010973, GenomeStudio)

 SCR_002798 SciCrunch identifier (RRID:SCR_002798, GraphPad Prism)

 SCR_003032 SciCrunch identifier (RRID:SCR_003032, Cytoscape)

 SCR_016386 SciCrunch identifier (RRID:SCR_016386, Illumina HiSeq 3000/HiSeq 4000 System)

 SCR_014210 SciCrunch identifier (RRID:SCR_014210, Image Lab Software)

 SCR_003070 SciCrunch identifier (RRID:SCR_003070, ImageJ)

 SCR_017551 SciCrunch identifier (RRID:SCR_017551, LabChart Reader)

 SCR_001622 SciCrunch identifier (RRID:SCR_001622, MATLAB)

 SCR_010777 SciCrunch identifier (RRID:SCR_010777, MutationTaster)

 SCR_013189 SciCrunch identifier (RRID:SCR_013189, PolyPhen)

 SCR_003485 SciCrunch identifier (RRID:SCR_003485, Reactome)

 SCR_012813 SciCrunch identifier (RRID:SCR_012813, SIFT)

 SCR_020563 SciCrunch identifier (RRID:SCR_020563, Thermo Scientific Dionex Ultimate 3000 system)

 SCR_002380 SciCrunch identifier (RRID:SCR_002380, UniProt)

 SCR_018876 SciCrunch identifier (RRID:SCR_018876, Zeiss: Axio Imager 2)

 cell.com...c1.pdf Supplemental material

 colab.re....ipynb Supplemental material (code, reused)

 mbexc.de...drome/ Website entry (mbexc.de)

Linked Antibodies

PID AG Type Antigen symbol Antibody Registry ID Name
primary-0102 primary ACTN2 AB_476766 Anti-α-Actinin (Sarcomeric) antibody
primary-0313 primary FLAG AB_262044 Monoclonal ANTI-FLAG® M2 antibody
primary-0472 primary TRA-1-60 AB_778563 Anti-TRA-1-60 (R) antibody [TRA-1-60]
primary-0473 primary TRA-1-60 AB_1645379 Alexa Fluor® 488 Mouse anti-Human TRA-1-60 Antigen
primary-0815 primary VCL AB_477629 Monoclonal Anti-Vinculin antibody
primary-1155 primary Oct3 AB_2784442 Oct3/4 Antibody, anti-human/mouse, REAfinity
primary-1157 primary AB_2536677 Nanog Monoclonal Antibody (23D2-3C6)
primary-1159 primary MYL2 AB_2147453 Myosin Light Chain 2/MLC-2V Polyclonal antibody
primary-1160 primary MRAS AB_10950895 MRAS Polyclonal antibody
primary-1163 primary RAS10 AB_2121151 Anti-Ras-Antikörper, Klon RAS10
primary-1306 primary AB_1549585 HA-Tag (C29F4) Rabbit mAb
primary-1640 primary AB_2810125 6x-His Tag Recombinant Rabbit Monoclonal Antibody (RM146)
primary-1641 primary LZTR1 AB_3076250 Anti-LZTR1 antibody [EPR25253-51]
primary-1642 primary AB_331783 Myc-Tag (9B11) Mouse mAb
primary-1643 primary RIT1 AB_882379 Anti-RIT1/RIT antibody
secondary-0032 secondary AB_143165 Goat anti-Rabbit IgG (H+L) Cross-Adsorbed Secondary Antibody, Alexa Fluor 488
secondary-0491 secondary AB_2536180 Donkey anti-Mouse IgG (H+L) Highly Cross-Adsorbed Secondary Antibody, Alexa Fluor 555
secondary-1161 secondary AB_2722659 Kaninchen-IgG, HRP-verknüpfter Vollantikörper
secondary-1162 secondary AB_772210 Maus-IgG, HRP-verknüpfter Vollantikörper