Gene Information from Publications |
| Publication Link |
Summary of findings |
| 18039713 |
The N-terminal part of TWINKLE is required for efficient binding to single-stranded DNA. |
| 17420318 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17921179 |
study reports a new phenotype in two siblings with compound heterozygous Twinkle mutations (A318T and Y508C), characterized by severe early onset encephalopathy and signs of liver involvement |
| 17722119 |
Identifying other Twinkle mutations in mitochondrial DNA depletion and/or autosomal dominant progressive external ophthalmoplegia and studying their impact on proteins should help in understanding why some mutations are recessive and others are dominant. |
| 17614276 |
Direct sequencing showed a heteroplasmic mutation at nucleotide 7506 in the dihydrouridine stem of the tRNA(Ser(UCN)) gene. |
| 17614277 |
We report a Spanish family showing a mild phenotype characterized by autosomal dominant ocular myopathy and morphological signs of mitochondrial dysfunction, that harboured a novel(p.R357P) mutation in the hot-spot linker region of the twinkle protein. |
| 17620490 |
This finding broadens the clinical spectrum of Twinkle gene mutations and further implicates loss of mitochondrial DNA integrity in the pathogenesis of Parkinson disease. |
| 15668446 |
A novel heterozygous A to G transition at nucleotide 955 of C10Orf2 (Twinkle)ws found in siblings with sensory ataxic neuropathy. |
| 12163192 |
Twinkle appears to be the most common gene associated with adPEO in Australian families. |
| 15181170 |
mechanism whereby mutations in twinkle result in progressive accumulation of multiple mtDNA deletions in post- mitotic tissues |
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