Atxn1l

Summary

Gene Symbol: Atxn1l
Description: ataxin 1-like
Alias: AW558552, Boat, C330011L24Rik, D6Mgi37, D8Ertd587e, ataxin-1-like, brother of ataxin-1
Species: mouse
Products:     Atxn1l

Top Publications

  1. Bowman A, Lam Y, Jafar Nejad P, Chen H, Richman R, Samaco R, et al. Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. Nat Genet. 2007;39:373-9 pubmed
    ..interactions that modify the toxicity of ATXN1, we generated a targeted duplication of the mouse ataxin-1-like (Atxn1l, also known as Boat) locus, a highly conserved paralog of SCA1, and tested the role of this protein in SCA1 ..
  2. Lee Y, Fryer J, Kang H, Crespo Barreto J, Bowman A, Gao Y, et al. ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization. Dev Cell. 2011;21:746-57 pubmed publisher
    ..of CAG repeats in ATAXIN1 (ATXN1) causes Spinocerebellar ataxia type 1, the functions of ATXN1 and ATAXIN1-Like (ATXN1L) remain poorly understood...
  3. Mizutani A, Wang L, Rajan H, Vig P, Alaynick W, Thaler J, et al. Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1. EMBO J. 2005;24:3339-51 pubmed
    ..that the cytotoxicity caused by ataxin-1 is modulated by association with a related protein, Brother of ataxin-1 (Boat)...
  4. Crespo Barreto J, Fryer J, Shaw C, Orr H, Zoghbi H. Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. PLoS Genet. 2010;6:e1001021 pubmed publisher
    ..Altogether, these data provide evidence that partial loss of Atxn1 function contributes to SCA1 pathogenesis and raise the possibility that loss-of-function mechanisms contribute to other dominantly inherited neurodegenerative diseases. ..
  5. Kahle J, Souroullas G, Yu P, Zohren F, Lee Y, Shaw C, et al. Ataxin1L is a regulator of HSC function highlighting the utility of cross-tissue comparisons for gene discovery. PLoS Genet. 2013;9:e1003359 pubmed publisher
    ..Observing that the ataxia-associated gene Ataxin-1-like (Atxn1L) was highly expressed in HSCs, we examined its role in HSC function through in vitro and in vivo assays...