Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.
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Summary
The results demonstrate that both NFU1 and BOLA3 play essential roles in the production of [Fe-S] centers for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the respiratory chain complexes.
- Type
- article
- Published
- 2011-10-07
- Cited by
- 267
- References
- 35
- Access
- Open access
- OpenAlex
- https://openalex.org/W1967185435
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:22053501
Keywords
Biology, Respiratory chain, Exon, Genetics, Missense mutation
References
- The Metabolic and Molecular Bases of Inherited Disease
- Combining data from genomes, Y2H and 3D structure indicates that BolA is a reductase interacting with a glutaredoxin
- Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins.
- Mechanisms of iron-sulfur protein maturation in mitochondria, cytosol and nucleus of eukaryotes.
- Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect.
- Iron–sulfur cluster biogenesis and human disease
- Mutations in the X‐linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency
- Lipoyl synthase requires two equivalents of S-adenosyl-L-methionine to synthesize one equivalent of lipoic acid.
- Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts.
- Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.
- A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.
- The stationary‐phase morphogene bolA from Escherichia coli is induced by stress during early stages of growth
- Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1α subunit
- Diagnosis of complex I deficiency in patients with lactic acidemia using skin fibroblast cultures.
- Transfer of Iron-Sulfur Cluster from NifU to Apoferredoxin*
- Subcellular compartmentalization of human Nfu, an iron–sulfur cluster scaffold protein, and its ability to assemble a [4Fe–4S] cluster
- Function and biogenesis of iron–sulphur proteins
- Mechanistic investigations of lipoic acid biosynthesis in Escherichia coli: both sulfur atoms in lipoic acid are contributed by the same lipoyl synthase polypeptide.
- Modifications of the Lipoamide-containing Mitochondrial Subproteome in a Yeast Mutant Defective in Cysteine Desulfurase*S
- A Protein Interaction Map of Drosophila melanogaster
Cited by
- Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease
- Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron-sulfur cluster depletion in human skeletal muscle.
- Eisen-Schwefel-Protein-Biogenese: Was Mitochondrien essenziell macht
- Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy
- Dihydrolipoamide Dehydrogenase Deficiency
- Nonketotic hyperglycinemia and epilepsy
- Coenzyme Q10 deficiency in children: Frequent type 2C muscle fibers with normal morphology
- Caractérisation génétique des atteintes hépatiques mitochondriales
- Mammalian iron–sulphur proteins: novel insights into biogenesis and function
- ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder
- The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders
- Cellular iron uptake, trafficking and metabolism: Key molecules and mechanisms and their roles in disease.
- Lipoic acid biosynthesis defects
- The iron-sulfur cluster assembly machineries in plants: current knowledge and open questions
- Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
- The roles of glutaredoxins ligating Fe-S clusters: Sensing, transfer or repair functions?
- The role of mitochondria in cellular iron-sulfur protein biogenesis and iron metabolism.
- Role of creatine as biomarker of mitochondrial diseases.
- Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
- Protein-mediated assembly of succinate dehydrogenase and its cofactors
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