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

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.

American journal of human genetics - 7 Oct 2011

Cameron Jessie M, Janer Alexandre, Levandovskiy Valeriy, Mackay Nevena, Rouault Tracey A, Tong Wing-Hang, Ogilvie Isla, Shoubridge Eric A, Robinson Brian H

Abstract excerpt

Severe combined deficiency of the 2-oxoacid dehydrogenases, associated with a defect in lipoate synthesis and accompanied by defects in complexes I, II, and III of the mitochondrial respiratory chain, is a rare autosomal recessive syndrome with no obvious causative gene defect. A candidate locus...

Read the complete abstract on PubMed

Topics

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

Share to Cytosol
Share to Electron Transport

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Fibroblasts

Share to Iron-Sulfur Proteins

Share to Mitochondria

Share to Mitochondrial Proteins

Share to Oxidoreductases

Source

Open in PubMed Open full text

Identifiers

PMID: 21944046
DOI: 10.1016/j.ajhg.2011.08.011
PMCID: PMC3188835

Genes

BOLA3
NFU1
ISCU

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21944046-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.PMID 21944046Read ↗

Assembly of the [4Fe-4S] cluster of NFU1 requires the coordinated donation of two [2Fe-2S] clusters from the scaffold proteins, ISCU2 and ISCA1.Semantic proximity Read ↗

BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndromeSemantic proximity Read ↗

NFU1 gene mutation and mitochondrial disorders.Semantic proximity Read ↗

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.Semantic proximity Read ↗

Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.Semantic proximity Read ↗

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.Semantic proximity Read ↗

Single Mutation in the NFU1 Gene Metabolically Reprograms Pulmonary Artery Smooth Muscle Cells.Semantic proximity Read ↗

Exome sequencing identifies <i><scp>NFS</scp>1</i> deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex <scp>II</scp>/<scp>III</scp> deficiencySemantic proximity Read ↗

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.Semantic proximity Read ↗

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.Semantic proximity Read ↗

Mitochondrial iron-sulfur protein biogenesis and human disease.Semantic proximity Read ↗

Understanding the molecular basis for multiple mitochondrial dysfunctions syndrome 1 (MMDS1): impact of a disease-causing Gly189Arg substitution on NFU1.Semantic proximity Read ↗

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