Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

doi:10.1016/j.ajhg.2017.08.015

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

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

American journal of human genetics - 5 Oct 2017

Feichtinger René G, Oláhová Monika, Kishita Yoshihito, Garone Caterina, Kremer Laura S, Yagi Mikako, Uchiumi Takeshi, Jourdain Alexis A, Thompson Kyle, D'Souza Aaron R, Kopajtich Robert, Alston Charlotte L, Koch Johannes, Sperl Wolfgang, Mastantuono Elisa, Strom Tim M, Wortmann Saskia B, Meitinger Thomas, Pierre Germaine, Chinnery Patrick F, Chrzanowska-Lightowlers Zofia M, Lightowlers Robert N, DiMauro Salvatore, Calvo Sarah E, Mootha Vamsi K, Moggio Maurizio, Sciacco Monica, Comi Giacomo P, Ronchi Dario, Murayama Kei, Ohtake Akira, Rebelo-Guiomar Pedro, Kohda Masakazu, Kang Dongchon, Mayr Johannes A, Taylor Robert W, Okazaki Yasushi, Minczuk Michal, Prokisch Holger

Abstract excerpt

Complement component 1 Q subcomponent-binding protein (C1QBP; also known as p32) is a multi-compartmental protein whose precise function remains unknown. It is an evolutionary conserved multifunctional protein localized primarily in the mitochondrial matrix and has roles in inflammation and infection processes, mitochondrial ribosome biogenesis, and regulation of apoptosis and nuclear transcription. It has an...

Read the complete abstract on PubMed

Topics

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiomyopathies

Share to Electron Transport

Share to Embryo, Mammalian

Share to Fibroblasts

Share to Mitochondrial Diseases

Share to Mitochondrial Proteins

Share to Oxidative Phosphorylation

Share to Sequence Homology

Source

Open in PubMed Open full text

Identifiers

PMID: 28942965
DOI: 10.1016/j.ajhg.2017.08.015
PMCID: PMC5630164

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.PMID 28942965Read ↗

Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.Semantic proximity Read ↗

Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.Semantic proximity Read ↗

Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.Semantic proximity Read ↗

Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.Semantic proximity Read ↗

Role of C1QBP/p32 and its Therapeutic Potential in Breast Carcinoma and other CancersSemantic proximity Read ↗

Cardiomyocyte-specific loss of mitochondrial p32/C1qbp causes cardiomyopathy and activates stress responses.Semantic proximity Read ↗

Systematic Multiomics Analysis of Alterations in C1QBP mRNA Expression and Relevance for Clinical Outcomes in CancersSemantic proximity Read ↗

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.Semantic proximity Read ↗

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.Semantic proximity Read ↗

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.Semantic proximity Read ↗

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.Semantic proximity Read ↗

Primary and secondary CoQ(10) deficiencies in humans.Semantic proximity Read ↗

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