Spinocerebellar Ataxias

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  Subject Areas on Research

  • Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7. 
  • Changes in protein function underlie the disease spectrum in patients with CHIP mutations. 
  • Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease. 
  • Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP. 
  • Neuro-respiratory pathology in spinocerebellar ataxia. 
  • Nicotinamide Pathway-Dependent Sirt1 Activation Restores Calcium Homeostasis to Achieve Neuroprotection in Spinocerebellar Ataxia Type 7. 
  • Respiratory dysfunction in a mouse model of spinocerebellar ataxia type 7. 
  • Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability. 
  • TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons. 
  • The molecular basis of spinocerebellar ataxia type 48 caused by a de novo mutation in the ubiquitin ligase CHIP. 
  • The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis.