PCBP1 regulates alternative splicing of AARS2 in congenital cardiomyopathy.

doi:10.1038/s44161-026-00798-3

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

Community

Back to search

Article

PCBP1 regulates alternative splicing of AARS2 in congenital cardiomyopathy.

Nature cardiovascular research - 1 Apr 2026

Lu Yao Wei, Liang Zhuomin, Dorr Kerry, Ruiz Samantha, Huang Xiaoran, Fangnibo Hanvi Denise, Juntilla Sheri M, Beutner Gisela, Lyu Shuhan, Guo Haipeng, Fernandes Tiago, Espinoza-Lewis Ramon A, Wang Tingting, Li Kathryn, Li Xue, Bir Singh Gurinder, Wang Yi, Deng Rui, Cowan Douglas, Mably John D, Pu William T, Huang Jessie, Porter George A, Conlon Frank, Chen Hong, Wang Da-Zhi

Abstract excerpt

Mutations in the AARS2 gene are linked to infantile cardiomyopathy; however, the underlying molecular mechanism remains unknown. Here we report that PCBP1, a poly(rC) binding protein, interacts with the AARS2 transcript to mediate its alternative splicing. Cardiomyocyte-specific deletion of Pcbp1 in mice impairs normal splicing and causes premature termination of Aars2, leading to defects in heart development and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiomyopathies

Share to Heterogeneous-Nuclear Ribonucleoproteins

Share to Mitochondria, Heart

Share to Myocytes, Cardiac

Share to Oxidative Phosphorylation

Share to RNA-Binding Proteins

Share to Unfolded Protein Response

Source

Open in PubMed Open full text

Identifiers

PMID: 42010330
DOI: 10.1038/s44161-026-00798-3
PMCID: PMC13095664

Genes

AARS2
PCBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PCBP1 regulates alternative splicing of AARS2 in congenital cardiomyopathy.PMID 42010330Read ↗

PCBP1 regulates alternative splicing of AARS2 in congenital cardiomyopathySemantic proximity Read ↗

Loss-of-function of RNA-binding protein PRRC2B causes translational defects and cardiovascular malformationSemantic proximity Read ↗

CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathySemantic proximity Read ↗

FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System.Semantic proximity Read ↗

Biallelic variants in<i>DAP3</i>result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotypeSemantic proximity Read ↗

RBPMS regulates cardiomyocyte contraction and cardiac function through RNA alternative splicingSemantic proximity Read ↗

Alternative translation initiation augments the human mitochondrial proteome.Semantic proximity Read ↗

Mammalian Pabpc4 is non-essential for development, but has roles in growth, post-natal survival and haematopoiesisSemantic proximity Read ↗

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.Semantic proximity Read ↗

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Distinct roles of IDR and CCD domains control PABPN1 aggregation and enable therapeutic rescueSemantic proximity Read ↗

Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.Semantic proximity Read ↗

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