ABCMdb

PMID: 25118695

Chuang CY, Chen LY, Fu RH, Chen SM, Ho MH, Huang JM, Hsu CC, Wang CC, Chen MS, Tsai RT
Involvement of the carboxyl-terminal region of the yeast peroxisomal half ABC transporter Pxa2p in its interaction with Pxa1p and in transporter function.
PLoS One. 2014 Aug 13;9(8):e104892. doi: 10.1371/journal.pone.0104892. eCollection 2014., [PubMed]

Sentences

No. Mutations Sentence Comment

81 ABCD1 p.Leu684Pro ABCD1 p.Trp679Arg We indeed found ALD disease-related point mutations in the CT2 of ALDP: W679R and L684P. Login to comment 170 ABCD1 p.Leu684Pro ABCD1 p.Trp679Arg The conserved amino acids (Y726 and F731) in the CT2 of Pxa2p corresponded to the point mutations W679R and L684P in ALD. Login to comment 199 ABCD1 p.Leu684Pro ABCD1 p.Trp679Arg The mutations Y726L and F731A in the CT2 of Pxa2p, shown in the present study to disrupt Pxa1_NBD/Pxa2_NBD interaction, correspond to the mutations W679R and L684P in the CT2 of human ALDP. Login to comment 200 ABCD1 p.Trp679Arg From the records in the human X-ALD database (http://www.x-ald.nl/), we found that W679R was the first missense mutation discovered in exon 10 of the ALDP gene [37]. Login to comment 203 ABCD1 p.Leu684Pro An L684P mutation was recorded only in unpublished data by Dr. S.J.S. Steinberg. Login to comment 215 ABCD1 p.Leu684Pro ABCD1 p.Trp679Arg doi:10.1371/journal.pone.0104892.g009 Y726L and F731A in Pxa2p on its protein interaction with Pxa1p may provide a significant reference for ALDP protein with W679R and L684P mutations. Login to comment 216 ABCD1 p.Leu684Pro ABCD1 p.Trp679Arg Thus, the effects of the W679R and L684P mutations in ALDP on protein-protein interaction are worth determining in future. Login to comment 346 ABCD1 p.Trp679Arg Korenke GC, Krasemann E, Meier V, Beuche W, Hunneman DH, et al. (1998) First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy. Login to comment