Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.

@article{Zhong2011DisruptionOT,
  title={Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.},
  author={Franklin L. Zhong and Sharon A Savage and Marina Shkreli and Neelam Giri and Lea Jessop and Timothy S. Myers and Renee Y. Chen and Blanche P Alter and Steven E. Artandi},
  journal={Genes & development},
  year={2011},
  volume={25 1},
  pages={
          11-6
        }
}
Dyskeratosis congenita (DC) is a genetic disorder of defective tissue maintenance and cancer predisposition caused by short telomeres and impaired stem cell function. Telomerase mutations are thought to precipitate DC by reducing either the catalytic activity or the overall levels of the telomerase complex. However, the underlying genetic mutations and the mechanisms of telomere shortening remain unknown for as many as 50% of DC patients, who lack mutations in genes controlling telomere… CONTINUE READING

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