Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome.

Cell reports - 23 Jul 2024

Busley Alexandra Viktoria, Gutiérrez-Gutiérrez Óscar, Hammer Elke, Koitka Fabian, Mirzaiebadizi Amin, Steinegger Martin, Pape Constantin, Böhmer Linda, Schroeder Henning, Kleinsorge Mandy, Engler Melanie, Cirstea Ion Cristian, Gremer Lothar, Willbold Dieter, Altmüller Janine, Marbach Felix, Hasenfuss Gerd, Zimmermann Wolfram-Hubertus, Ahmadian Mohammad Reza, Wollnik Bernd, Cyganek Lukas

Abstract excerpt

Noonan syndrome patients harboring causative variants in LZTR1 are particularly at risk to develop severe and early-onset hypertrophic cardiomyopathy. In this study, we investigate the mechanistic consequences of a homozygous variant LZTR1L580P by using patient-specific and CRISPR-Cas9-corrected induced pluripotent stem cell (iPSC) cardiomyocytes. Molecular, cellular, and functional phenotyping in combination...

Topics

Join the communities discussing this publication.

Cardiomyopathy, Hypertrophic
CRISPR-Cas Systems
Induced Pluripotent Stem Cells
Myocytes, Cardiac

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Noonan Syndrome

Protein Multimerization

Source

Identifiers

PMID: 39003740
DOI: 10.1016/j.celrep.2024.114448

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome.PMID 39003740Read ↗

LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndromeSemantic proximity Read ↗

Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy.Semantic proximity Read ↗

Dysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome-like phenotypes in mice.Semantic proximity Read ↗

<i>LMNA</i> Haploinsufficiency in Human iPSC-Derived Cardiac Organoids Reveals Early Fibrotic Signaling as a Therapeutically Targetable ProcessSemantic proximity Read ↗

LZTR1-Related Hypertrophic Cardiomyopathy Without Typical Noonan Syndrome Features.Semantic proximity Read ↗

Noonan syndrome-associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish.Semantic proximity Read ↗

LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapySemantic proximity Read ↗

Alteration of myocardial structure and function in RAF1-associated Noonan syndrome: Insights from cardiac disease modeling based on patient-derived iPSCsSemantic proximity Read ↗

Genetic Mutations Underlying Growth Impairment and Cardiomyopathies in Children: Molecular Mechanisms, Clinical Implications and Targeted Therapies.Semantic proximity Read ↗

A highly penetrant <i>LMNA</i> R541C variant associated with dilated cardiomyopathy leads to dysregulation in metabolism and proliferation pathways in stem cell-derived cardiomyocytesSemantic proximity Read ↗

Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability.Semantic proximity Read ↗

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.