PMID: 19451134

Futter M, Diekmann H, Schoenmakers E, Sadiq O, Chatterjee K, Rubinsztein DC
Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors.
J Med Genet. 2009 Jul;46(7):438-46. Epub 2009 May 17., [PubMed]
Sentences
No. Mutations Sentence Comment
130 ABCA1 p.Leu317Ala
X
ABCA1 p.Leu317Ala 19451134:130:188
status: NEW
view ABCA1 p.Leu317Ala details
 To determine whether any of these NR binding motifs could mediate the interaction between huntingtin and the LXR LBD, we made a series of leucine to alanine point mutations (L211A, L297A, L317A and L326A). Login to comment 155 ABCA1 p.Leu317Ala
X
ABCA1 p.Leu317Ala 19451134:155:232
status: NEW
view ABCA1 p.Leu317Ala details
 (A) Immunoprecipitation of Myc-tagged LXR and (B) activity of an LXRE-luciferase reporter expressed in SK-N-SH cells or HEK cells, respectively, in combination with individual Leu to Ala FLAG-huntingtin 1-588 mutants (L211A, L297A, L317A, L326A), a mutant with all five NR binding motifs mutated (quadruple) or a deletion mutant missing the region containing the five motifs (deletion). Login to comment