Accumulation of mutant neuroserpin precedes development of clinical symptoms in familial encephalopathy with neuroserpin inclusion bodies.

@article{Galliciotti2007AccumulationOM,
  title={Accumulation of mutant neuroserpin precedes development of clinical symptoms in familial encephalopathy with neuroserpin inclusion bodies.},
  author={Giovanna Galliciotti and Markus Glatzel and Jochen Kinter and Serguei Kozlov and Paolo Cinelli and Thomas R{\"u}licke and Peter Sonderegger},
  journal={The American journal of pathology},
  year={2007},
  volume={170 4},
  pages={1305-13}
}
Intracellular protein deposition due to aggregation caused by conformational alteration is the hallmark of a number of neurodegenerative disorders, including Parkinson's disease, tauopathies, Huntington's disease, and familial encephalopathy with neuroserpin inclusion bodies. The latter is an autosomal dominant disorder caused by point mutations in neuroserpin resulting in its destabilization. Mutant neuroserpin polymerizes and forms intracellular aggregates that eventually lead to… CONTINUE READING

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