ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
Disease: Cerebellar Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.100 AlteredExpression phenotype BEFREE Here we investigated the ability of caffeine to alleviate behavioral deficits and cerebellar neuropathology in transgenic mice with a severe ataxia resulting from expression of a truncated fragment of polyglutamine-expanded ataxin-3 in Purkinje cells. 28032667 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.100 AlteredExpression phenotype BEFREE Machado-Joseph disease (MJD), the most common dominantly inherited ataxia worldwide, is caused by a polyglutamine (polyQ) expansion in the deubiquitinating (DUB) enzyme ataxin-3. 20940148 2011