Gene Symbol: Atxn1l
Description: ataxin 1-like
Alias: AW558552, Boat, C330011L24Rik, D6Mgi37, D8Ertd587e, ataxin-1-like, brother of ataxin-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 ..
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...
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)...
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. ..
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...