ABCMdb

PMID: 17092750

Kemp S, Wanders RJ
X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment.
Mol Genet Metab. 2007 Mar;90(3):268-76. Epub 2006 Nov 7., [PubMed]

Sentences

No. Mutations Sentence Comment

56 ABCD1 p.Gly512Ser ABCD1 p.Ser606Leu ATP-binding and ATPase activity has been demonstrated for ALDP [17], and Roerig and coworkers demonstrated that two disease causing missense mutations located in the ATP-binding domain resulted in either decreased ATP-binding capacity (Ser606Leu), or reduced ATPase activity (Gly512Ser) [18]. Login to comment 57 ABCD1 p.Gly512Ser ABCD1 p.Ser606Leu ATP-binding and ATPase activity has been demonstrated for ALDP [17], and Roerig and coworkers demonstrated that two disease causing missense mutations located in the ATP-binding domain resulted in either decreased ATP-binding capacity (Ser606Leu), or reduced ATPase activity (Gly512Ser) [18]. Login to comment