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Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis.
LRPPRC and SLIRP Interact in a Ribonucleoprotein Complex That Regulates Posttranscriptional Gene Expression in Mitochondria
- F. Sasarman, C. Brunel-Guitton, H. Antonicka, T. Wai, E. Shoubridge
- BiologyMolecular biology of the cell
- 15 April 2010
The PPR family protein LRPPRC functions in posttranscriptional mitochondrial gene expression as part of an RNP complex with SLIRP, a stem-loop RNA-binding protein, to regulate the stability and handling of mature mRNAs.
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.
COX15 is established as an additional cause, along with SCO2, of fatal infantile, hypertrophic cardiomyopathy associated with isolated COX deficiency, and results suggest that reduced availability of heme A stalls the assembly of COX.
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases and molecular modeling predicts that the C-terminal region of the gene product folds similarly to TonB, a bacterial protein involved in energy transduction for cobalamin uptake.
The mitochondrial RNA-binding protein GRSF1 localizes to RNA granules and is required for posttranscriptional mitochondrial gene expression.
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome
This work has identified a specific defect in the synthesis of the mitochondrial DNA-encoded COX I subunit in a pedigree segregating late-onset Leigh syndrome and cytochrome c oxidase (COX) deficiency and identified a homozygous single-base-pair insertion in CCDC44, encoding a member of a large family of hypothetical proteins containing a conserved DUF28 domain.
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.
It is shown that mutations in this gene can cause nearly the full range of clinical phenotypes associated with early onset isolated COX deficiency, including anemia, sensorineural deafness and fatal infantile hypertrophic cardiomyopathy.
The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.
- H. Antonicka, F. Sasarman, N. Kennaway, E. Shoubridge
- Biology, MedicineHuman molecular genetics
- 1 June 2006
Investigating the molecular basis for tissue specificity in patients with a fatal hepatopathy due to mutations in the mitochondrial translation elongation factor EFG1 revealed unique, tissue-specific patterns in the nature and severity of the defect, indicating that the relative abundance of these factors is an important determinant of translation efficiency.
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
Identification and Characterization of a Common Set of Complex I Assembly Intermediates in Mitochondria from Patients with Complex I Deficiency*
A possible assembly pathway for the complex is proposed, which differs significantly from that proposed for Neurospora, the current model for complex I assembly, and suggests that these are intermediates in the assembly of the holoenzyme complex.