Huntingtons sjukdom - ännu ett galet protein?
[Huntington disease--yet another mad protein?]
Författare
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.
Avdelning/ar
Publiceringsår
2001
Språk
Svenska
Sidor
5756-5761
Publikation/Tidskrift/Serie
Läkartidningen
Volym
98
Issue
50
Dokumenttyp
Artikel i tidskrift
Förlag
Swedish Medical Association
Ämne
- Neurosciences
Status
Published
Forskningsgrupp
- Translational Neuroendocrinology
ISBN/ISSN/Övrigt
- ISSN: 0023-7205