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Identification of telomere dysfunction in FA

Mol Neurodegener. 2015 Jun 10;10(1):22. doi: 10.1186/s13024-015-0019-6.
Here we aimed to investigate both telomere structure and function in FRDA cells. Our results confirmed telomere shortening in FRDA patient leukocytes and identified similar telomere shortening in FRDA patient autopsy cerebellar tissues. However, FRDA fibroblasts showed significantly longer telomeres at early passage, occurring in the absence of telomerase activity, but with activation of an alternative lengthening of telomeres (ALT)-like mechanism. 

Read More: Identification of telomere dysfunction in Friedreich ataxia






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