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

Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.

Human molecular genetics - 15 Nov 2015

Varghese Febin, Atcheson Erwan, Bridges Hannah R, Hirst Judy

Abstract excerpt

Dysfunctions in mitochondrial complex I (NADH:ubiquinone oxidoreductase) are both genetically and clinically highly diverse and a major cause of human mitochondrial diseases. The genetic determinants of individual clinical cases are increasingly being described, but how these genetic defects affect complex I on the molecular and cellular level, and have different clinical consequences in different individuals, is...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Electron Transport Complex I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Flavins

Share to Mitochondrial Diseases

Share to Models, Molecular

Share to NADH Dehydrogenase

Share to Protein Subunits

Share to Yarrowia

Source

Open in PubMed Open full text

Identifiers

PMID: 26345448
DOI: 10.1093/hmg/ddv344
PMCID: PMC4614703

Genes

NDUFV1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.PMID 26345448Read ↗

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

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

Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency.Semantic proximity Read ↗

Application of the yeast Yarrowia lipolytica as a model to analyse human pathogenic mutations in mitochondrial complex I (NADH:ubiquinone oxidoreductase).Semantic proximity Read ↗

Analysis of compound heterozygous and homozygous mutations found in peripheral subunits of human respiratory Complex I, NDUFS1, NDUFS2, NDUFS8 and NDUFV1, by modeling in the E. coli enzyme.Semantic proximity Read ↗

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.Semantic proximity Read ↗

Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae.Semantic proximity Read ↗

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.Semantic proximity Read ↗

Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.Semantic proximity Read ↗

Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.Semantic proximity Read ↗

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

Mitochondrial complex I-linked disease.Semantic proximity Read ↗

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