ABCMdb

PMID: 9051655

Yamada T, Shinnoh N, Kobayashi T
Protease inhibitors suppress the degradation of mutant adrenoleukodystrophy proteins but do not correct impairment of very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.
Neurochem Res. 1997 Mar;22(3):233-7., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCD1 p.Arg660Trp ABCD1 p.Gly512Ser We investigated the stability of mutant ALDP and found from pulse-chase experiments that the respective half-lives of the normal and mutant #140 (Gly512Ser) and #249 (Arg660Trp) were 72.6, 32.1 and 26.1 min, indicative that mutant ALDPs are less stable than normal ones. Login to comment 19 ABCD1 p.Arg660Trp ABCD1 p.Gly512Ser Two, #240 and #249, respectively had the missense mutations Gly512Ser (G1920A) and Arg660Trp (C2364T). Login to comment 37 ABCD1 p.Arg660Trp ABCD1 p.Gly512Ser Normal and mutant (Gly512Ser or Arg660Trp) ALDP cDNAs synthesized by reverse-transcription and PCR were inserted into the expression vector, pCAGGS (8). Login to comment 82 ABCD1 p.Arg660Trp ABCD1 p.Gly512Ser Gly512Ser and Arg660Trp mutations in their patients resulted in a complete lack of immunoreactivity, as they did in our patients (2). Login to comment 94 ABCD1 p.Gly512Ser For example, Gly512Ser mutation, which is localized in the ATP-binding domain, may critically affect such functions. Login to comment