ABCMdb

PMID: 10196381

Netik A, Forss-Petter S, Holzinger A, Molzer B, Unterrainer G, Berger J
Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy.
Hum Mol Genet. 1999 May;8(5):907-13., [PubMed]

Sentences

No. Mutations Sentence Comment

28 ABCD1 p.Ala626Thr ABCD1 p.Ala626Thr To investigate the influence of expression of ALDP and ALDRP on β-oxidation in an ALDP/ALDRP-deficient system, we used SV40-transformed skin fibroblasts from an X-ALD patient with the missense mutation A626T, which lack the punctate immunoreactive staining pattern characteristic for ALDP (23). Login to comment 29 ABCD1 p.Ala626Thr To investigate the influence of expression of ALDP and ALDRP on b2;-oxidation in an ALDP/ALDRP-deficient system, we used SV40-transformed skin fibroblasts from an X-ALD patient with the missense mutation A626T, which lack the punctate immunoreactive staining pattern characteristic for ALDP (23). Login to comment 112 ABCD1 p.Ala626Thr 11 with mutation A626T in ref. Login to comment 113 ABCD1 p.Ala626Thr 11 with mutation A626T in ref. Login to comment