Article
Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice.
Nature genetics - 1 Nov 1998
Pennacchio L A, Bouley D M, Higgins K M, Scott M P, Noebels J L, Myers R M
Abstract excerpt
Loss-of-function mutations in the gene (CSTB) encoding human cystatin B, a widely expressed cysteine protease inhibitor, are responsible for a severe neurological disorder known as Unverricht-Lundborg disease (EPM1). The primary cellular events and mechanisms underlying the disease are unknown. W...
Topics
- Amino Acid Sequence
- Animals
- Apoptosis
- Ataxia
- Base Sequence
- Cerebellum
- Corneal Opacity
- Cystatin B
- Cystatins
- Cysteine Proteinase Inhibitors
- DNA Primers
- Disease Models, Animal