title: Vascular endothelial growth factor ameliorates the ataxic phenotype in a mouse model of spinocerebellar ataxia type 1.
abstract: Spinocerebellar ataxia type 1 (SCA1) is an adult-onset, dominantly inherited neurodegenerative disease caused by expansion of a glutamine repeat tract in ataxin-1 (ATXN1). Although the precise function of ATXN1 remains elusive, it seems to be involved in transcriptional repression. We find that mutant ATXN1 represses transcription of the neurotrophic and angiogenic factor vascular endothelial growth factor (VEGF). Genetic overexpression or pharmacologic infusion of recombinant VEGF mitigates SCA1 pathogenesis, suggesting a new therapeutic strategy for this disease.
authors: Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
authors: Marija
authors: M
authors: Cvetanovic
authors: Jay M
authors: JM
authors: Patel
authors: Hugo H
authors: HH
authors: Marti
authors: Ameet R
authors: AR
authors: Kini
authors: Puneet
authors: P
authors: Opal
mesh_terms: D000818:Animals; D000067696:Ataxin-1; D000067528:Ataxins; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D020754:Spinocerebellar Ataxias / Q000188:drug therapy* / Q000473:pathology / Q000503:physiopathology*; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics / Q000378:metabolism* / Q000627:therapeutic use*
chemical_list: C000593749:ATXN1 protein, human; D000067696:Ataxin-1; D000067528:Ataxins; C000593750:Atxn1 protein, mouse; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D042461:Vascular Endothelial Growth Factor A