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Publication

Property	Value
Working Groups	RG Cyganek, RG Hasenfuß, RG Wollnik, RG Zimmermann
Subproject	None
Open Access	Yes
Publication Type	Journal Article
Peer Reviewed	Yes
PMID	39003740
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

12259https://www.addgene.org/12259 Addgene identifier (12259, reused)

12260https://www.addgene.org/12260 Addgene identifier (12260, reused)

13512https://www.addgene.org/13512 Addgene identifier (13512, reused)

90227https://www.addgene.org/90227 Addgene identifier (90227, reused)

cell.com...0777-0https://www.cell.com/cell-reports/pdfExtended/S2211-1247(24)00777-0 Article fulltext

sfb1002....ine=16https://sfb1002.med.uni-goettingen.de/production/cellmodel/cell-line/view?tab=internal&line=16 Cell Model Catalogue (UMGi014-C)

sfb1002....ine=29https://sfb1002.med.uni-goettingen.de/production/cellmodel/cell-line/view?tab=internal&line=29 Cell Model Catalogue (UMGi130-A)

sfb1002....ine=50https://sfb1002.med.uni-goettingen.de/production/cellmodel/cell-line/view?tab=internal&line=50 Cell Model Catalogue (UMGi137-A)

sfb1002....ne=450https://sfb1002.med.uni-goettingen.de/production/cellmodel/cell-line/view?tab=gen_mod&line=450 Cell Model Catalogue (UMGi137-A-1)

9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)

0000-0002-5036-0093https://orcid.org/0000-0002-5036-0093 ORCID identifier (Alexandra Viktoria Busley)

0000-0002-1507-0402https://orcid.org/0000-0002-1507-0402 ORCID identifier (Elke Hammer)

0009-0007-5226-9676https://orcid.org/0009-0007-5226-9676 ORCID identifier (Fabian Koitka)

0000-0002-3340-586Xhttps://orcid.org/0000-0002-3340-586X ORCID identifier (Amin Mirzaiebadizi)

0000-0001-6562-7187https://orcid.org/0000-0001-6562-7187 ORCID identifier (Constantin Pape)

0000-0001-7184-5770https://orcid.org/0000-0001-7184-5770 ORCID identifier (Mandy Kleinsorge)

0000-0002-5018-4712https://orcid.org/0000-0002-5018-4712 ORCID identifier (Melanie Engler)

0000-0003-3204-1598https://orcid.org/0000-0003-3204-1598 ORCID identifier (Ion Cristian Cirstea)

0000-0001-7065-5027https://orcid.org/0000-0001-7065-5027 ORCID identifier (Lothar Gremer)

0000-0002-0065-7366https://orcid.org/0000-0002-0065-7366 ORCID identifier (Dieter Willbold)

0000-0003-4372-1521https://orcid.org/0000-0003-4372-1521 ORCID identifier (Janine Altmüller)

0000-0003-3953-6235https://orcid.org/0000-0003-3953-6235 ORCID identifier (Felix Marbach)

0000-0002-5942-361Xhttps://orcid.org/0000-0002-5942-361X ORCID identifier (Gerd Hasenfuß)

0000-0003-1190-4040https://orcid.org/0000-0003-1190-4040 ORCID identifier (Wolfram Hubertus Zimmermann)

0000-0002-2034-8894https://orcid.org/0000-0002-2034-8894 ORCID identifier (Mohammad Reza Ahmadian)

0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364 ORCID identifier (Bernd Wollnik)

0000-0001-9120-1382https://orcid.org/0000-0001-9120-1382 ORCID identifier (Lukas Cyganek)

PXD038417http://proteomecentral.proteomexchange.org/cgi/GetDataset?ID=PXD038417 Pride proteome dataset (PXD038417)

PXD038425http://proteomecentral.proteomexchange.org/cgi/GetDataset?ID=PXD038425 Pride proteome dataset (PXD038425)

535https://sfb1002.med.uni-goettingen.de/production/literature/publications/535 Published Data Registry entry (CRC 1002)

646https://prod.mbexc.uni-goettingen.de/literature/publications/646 Published Data Registry entry (MBExC, preprint)

1/482https://mbexc.uni-goettingen.de/archive/1/482 Research Data Archive (supplemental material)

02nv7yv05https://ror.org/02nv7yv05 ROR identifier (02nv7yv05, Forschungszentrum Jülich)

01s1h3j07https://ror.org/01s1h3j07 ROR identifier (01s1h3j07, Fraunhofer Institute for Translational Medicine and Pharmacology)

031t5w623https://ror.org/031t5w623 ROR identifier (031t5w623, German Centre for Cardiovascular Research)

038t36y30https://ror.org/038t36y30 ROR identifier (038t36y30, Heidelberg University)

024z2rq82https://ror.org/024z2rq82 ROR identifier (024z2rq82, Heinrich Heine University Düsseldorf)

04p5ggc03https://ror.org/04p5ggc03 ROR identifier (04p5ggc03, Max Delbrück Center for Molecular Medicine)

03av75f26https://ror.org/03av75f26 ROR identifier (03av75f26, Max Planck Institute for Multidisciplinary Sciences)

05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)

04h9pn542https://ror.org/04h9pn542 ROR identifier (04h9pn542, Seoul National University)

032000t02https://ror.org/032000t02 ROR identifier (032000t02, Universität Ulm)

05mxhda18https://ror.org/05mxhda18 ROR identifier (05mxhda18, University Hospital Cologne)

021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)

01y9bpm73https://ror.org/01y9bpm73 ROR identifier (01y9bpm73, University of Göttingen)

00r1edq15https://ror.org/00r1edq15 ROR identifier (00r1edq15, University of Greifswald)

CVCL_D615https://scicrunch.org/resolver/CVCL_D615 SciCrunch identifier (RRID:CVCL_D615, Expi293F)

CVCL_0063https://scicrunch.org/resolver/CVCL_0063 SciCrunch identifier (RRID:CVCL_0063, HEK293T)

CVCL_3285https://scicrunch.org/resolver/CVCL_3285 SciCrunch identifier (RRID:CVCL_3285, HFF-1)

SCR_023662https://scicrunch.org/resolver/SCR_023662 SciCrunch identifier (RRID:SCR_023662, AlphaFold Protein Structure Database)

SCR_019690https://scicrunch.org/resolver/SCR_019690 SciCrunch identifier (RRID:SCR_019690, Bio-Rad Chemidoc XRS Gel Imaging System)

SCR_007358https://scicrunch.org/resolver/SCR_007358 SciCrunch identifier (RRID:SCR_007358, CellProfiler)

SCR_015935https://scicrunch.org/resolver/SCR_015935 SciCrunch identifier (RRID:SCR_015935, CRISPOR)

SCR_010973https://scicrunch.org/resolver/SCR_010973 SciCrunch identifier (RRID:SCR_010973, GenomeStudio)

SCR_002798https://scicrunch.org/resolver/SCR_002798 SciCrunch identifier (RRID:SCR_002798, GraphPad Prism)

SCR_003032https://scicrunch.org/resolver/SCR_003032 SciCrunch identifier (RRID:SCR_003032, Cytoscape)

SCR_016386https://scicrunch.org/resolver/SCR_016386 SciCrunch identifier (RRID:SCR_016386, Illumina HiSeq 3000/HiSeq 4000 System)

SCR_014210https://scicrunch.org/resolver/SCR_014210 SciCrunch identifier (RRID:SCR_014210, Image Lab Software)

SCR_003070https://scicrunch.org/resolver/SCR_003070 SciCrunch identifier (RRID:SCR_003070, ImageJ)

SCR_017551https://scicrunch.org/resolver/SCR_017551 SciCrunch identifier (RRID:SCR_017551, LabChart Reader)

SCR_001622https://scicrunch.org/resolver/SCR_001622 SciCrunch identifier (RRID:SCR_001622, MATLAB)

SCR_010777https://scicrunch.org/resolver/SCR_010777 SciCrunch identifier (RRID:SCR_010777, MutationTaster)

SCR_013189https://scicrunch.org/resolver/SCR_013189 SciCrunch identifier (RRID:SCR_013189, PolyPhen)

SCR_003485https://scicrunch.org/resolver/SCR_003485 SciCrunch identifier (RRID:SCR_003485, Reactome)

SCR_012813https://scicrunch.org/resolver/SCR_012813 SciCrunch identifier (RRID:SCR_012813, SIFT)

SCR_020563https://scicrunch.org/resolver/SCR_020563 SciCrunch identifier (RRID:SCR_020563, Thermo Scientific Dionex Ultimate 3000 system)

SCR_002380https://scicrunch.org/resolver/SCR_002380 SciCrunch identifier (RRID:SCR_002380, UniProt)

SCR_018876https://scicrunch.org/resolver/SCR_018876 SciCrunch identifier (RRID:SCR_018876, Zeiss Axio Imager 2)

cell.com...c1.pdfhttps://www.cell.com/cms/10.1016/j.celrep.2024.114448/attachment/ce7638e3-bdbb-4525-9afb-3c0d322f9fe5/mmc1.pdf Supplemental material

colab.re....ipynbhttps://colab.research.google.com/github/sokrypton/ColabFold/blob/main/AlphaFold2.ipynb Supplemental material (code, reused)

mbexc.de...drome/https://mbexc.de/mutation-induced-lztr1-polymerization-provokes-cardiac-pathology-in-recessive-noonan-syndrome/ Website entry (mbexc.de)

Linked Antibodies

PID	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

Technical Support: menoci@medizin.uni-goettingen.de

Department of Medical Informatics
University Medical Center Göttingen
Imprint

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External Resources

Linked Antibodies

Technical support

Links

Spokesperson

Prof. Dr. Tobias Moser

Spokesperson of Cluster of Excellence