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Huntingtons sjukdom - ännu ett galet protein?

[Huntington disease--yet another mad protein?]

På svenska

Author

Summary, in English

Huntington's disease is an autosomal dominant neurodegenerative disorder caused by an expanded CAG repeat. It is characterized by motor and cognitive disturbances, as well as cellular dysfunction and loss in the basal ganglia and the cerebral cortex. The mutant protein huntingtin aggregates in cells. The toxicity of mutant huntingtin, or the loss of its normal function, causes disruption of cellular functions such as protein and calcium metabolism, transmitter release, mitochondria and gene transcription. Recent findings in basic research open up new possibilities for novel therapies.

Publishing year

2001

Language

Swedish

Pages

5756-5761

Publication/Series

Läkartidningen

Volume

98

Issue

50

Document type

Journal article

Publisher

Swedish Medical Association

Topic

  • Neurosciences

Status

Published

Research group

  • Translational Neuroendocrinology

ISBN/ISSN/Other

  • ISSN: 0023-7205