Discover Community Create You

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

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

17 Jan 2022

Abstract excerpt

Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 (PYROXD2; previously called YueF) is a mitochondrial inner membrane/matrix-residing protein and is reported to regulate mitochondrial function. The clinical importance of PYROXD2 has been unclear, and little is known of the protein’s precise biological function. In the present paper, we report biallelic variants in PYROXD2 identified by genome sequencing in a...

Read the complete abstract on PubMed

Topics

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

Share to Cancer, Hypoxia, and Metabolism
Share to GDF15 and Related Biomarkers
Share to Mitochondrial Function and Pathology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35055180
DOI: 10.3390/ijms23020986

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial FunctionPMID 35055180Read ↗

Severe neonatal-onset PYROXD1-related myopathy with a novel homozygous missense variant: expanding the phenotypic spectrum.Semantic proximity Read ↗

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and SudanSemantic proximity Read ↗

NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment.Semantic proximity Read ↗

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.Semantic proximity Read ↗

WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case reportSemantic proximity Read ↗

Molecular and clinical spectra of FBXL4 deficiency.Semantic proximity Read ↗

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

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial diseaseSemantic proximity Read ↗

ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.Semantic proximity Read ↗

Emerging Roles of NDUFS8 Located in Mitochondrial Complex I in Different Diseases.Semantic proximity Read ↗

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.Semantic proximity Read ↗

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.Semantic proximity Read ↗

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