Activity
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3 actions
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| Leukodystrophy - adult onset v0.87 | TACO1 | Seb Lunke Marked gene: TACO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.87 | TACO1 | Seb Lunke Gene: taco1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.87 | TACO1 |
Seb Lunke gene: TACO1 was added gene: TACO1 was added to Leukodystrophy - adult onset. Sources: Literature Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TACO1 were set to 33709035 Phenotypes for gene: TACO1 were set to Leukoencephalopathy, adult onset Review for gene: TACO1 was set to RED Added comment: 50yo female with hom c.676G>T (p.Glu226Ter) variant. Onset of slowly progressive spastic gait and mild cognitive impairment in her 30s. 24yo carrier daughter healthy. Live imaging microscopy in primary fibroblasts showed a mild reduction of optic atrophy gene 1 long forms, which are the active mediators of mitochondrial fusion (figure 1C), however mitochondrial network morphology was comparable to controls, with the highest percentage of cells showing fused and interconnected organelles. Sources: Literature |
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