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The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
TLDR
The association of mtDNA depletion with mutated DGUOK suggests that the salvage-pathway enzymes are involved in the maintenance of balanced mitochondrial dNTP pools. Expand
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
TLDR
Mutations in TK2 represent a new etiology for mitochondrial DNA depletion, underscoring the importance of the mitochondrial dNTP pool in the pathogenesis of mitochondrial depletion. Expand
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.
TLDR
It is speculated that missplicing mutations in mitochondrial aminoacyl-tRNA synthethase genes preferentially affect the brain because of a tissue-specific vulnerability of the splicing machinery. Expand
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.
TLDR
It is proposed that a defect in the last step of mitochondrial dNTP salvage is a novel cause of the mtDNA depletion syndrome. Expand
A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism
TLDR
The importance of the endocytic/lysosomal pathway in the pathogenesis of Parkinson disease and other forms of Parkinsonism is underscored, with a deleterious mutation in DNAJC6 identified in two patients with juvenile Parkinsonism. Expand
Acute infantile liver failure due to mutations in the TRMU gene.
TLDR
There is a window of time whereby patients with TRMU mutations are at increased risk of developing liver failure, and it is proposed that sulfur is a TRMU substrate and its availability is limited during the neonatal period. Expand
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.
TLDR
It is concluded that yeast Nfu1 functions as a late-acting maturation factor for a subset of mitochondrial Fe-S proteins, suggesting that NFU1 performs a specific function in mitochondrialFe-S cluster maturation. Expand
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood
TLDR
LPIN1 should be regarded as a major cause of severe myoglobinuria in early childhood, and the high frequency of the intragenic LPIN1deletion should provide a valuable criterion for fast diagnosis, prior to muscle biopsy. Expand
The H syndrome is caused by mutations in the nucleoside transporter hENT3.
TLDR
The identification of mutations in the SLC29A3 gene in patients with a mild clinical phenotype suggests that this is a largely underdiagnosed condition and strongly suggests that even oligosymptomatic individuals might have the disorder. Expand
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.
TLDR
Using genome-wide SNP homozygosity analysis, a homozygous identity-by-descent region on chromosome 19 was identified and the pathogenic mutation c.1169A>G (p.Asp390Gly) in SARS2 was detected, encoding the mitochondrial seryl-tRNA synthetase. Expand
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