Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome.

@article{Huebner2006MiceLT,
  title={Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome.},
  author={Angela J Huebner and Philipp Mann and Elvira Rohde and Angela M Kaindl and Martin Witt and Paul Verkade and Sibylle Jakubiczka and Mario Menschikowski and Gisela Stoltenburg-Didinger and Katrin K{\"o}hler},
  journal={Molecular and cellular biology},
  year={2006},
  volume={26 5},
  pages={1879-87}
}
Triple A syndrome is a human autosomal recessive disorder characterized by adrenal insufficiency, achalasia, alacrima, and neurological abnormalities affecting the central, peripheral, and autonomic nervous systems. In humans, this disease is caused by mutations in the AAAS gene, which encodes ALADIN, a protein that belongs to the family of WD-repeat proteins and localizes to nuclear pore complexes. To analyze the function of the gene in the context of the whole organism and in an attempt to… CONTINUE READING

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