ABCMdb

ABCD1 p.Arg74Trp

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Publications

PMID: 21476988 [PubMed] Zhang X et al: "Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression."

No. Sentence Comment

153 Approximately 60% of X-ALD ABCD1 mutations are missense mutations, 65% of which result in no detectable ALDP, based on IF (immunofluorescence), indicating that they affect protein Table 1 Quantification of ALDP levels in X-ALD fibroblasts ALDP Mutation IF Immunoblot (% of control) p.Arg74Trp Absent 7.5 + - 0.6 p.Arg104Cys Reduced 35 + - 3.0 p.Ser149Asn Present 77 + - 3.0 p.Asp194His Present 60 + - 13.6 p.Leu220Pro Reduced 21.8 + - 5.4 p.Arg389His Present 40.6 + - 3.6 p.Arg554His Absent 1.0 + - 0.5 p.Ser606Leu Present 25 + - 1.5 p.Glu609Gly Absent 2.1 + - 1.3 p.Glu609Lys Absent 1.8 + - 0.9 p.Ala616Thr Absent 4.3 + - 1.7 p.Leu654Pro Absent 1.5 + - 1.3 p.Arg660Trp Absent 1.6 + - 0.8 p.His667Asp Absent 2.9 + - 1.0 p.Arg113fs Absent - Figure 3 Interaction of mammalian ABCD proteins with Arabidopsis Pex19 in vivo Tobacco plants stably expressing CFP-SKL were co-transfected with 35S::ABCD-YFP fusions andNLS-Pex19constructs.Leafepidermalcellswereimagedusingconfocalmicroscopy:(A-D) ALDP-YFP plus NLS-HsPex19; (E-H) ALDP-YFP plus NLS-AtPex19_1; (I-L) ALDR-YFP plus NLS-AtPex19_1. Login to comment
154 Approximately 60% of X-ALD ABCD1 mutations are missense mutations, 65% of which result in no detectable ALDP, based on IF (immunofluorescence), indicating that they affect protein Table 1 Quantification of ALDP levels in X-ALD fibroblasts ALDP Mutation IF Immunoblot (% of control) p.Arg74Trp Absent 7.5 + - 0.6 p.Arg104Cys Reduced 35 + - 3.0 p.Ser149Asn Present 77 + - 3.0 p.Asp194His Present 60 + - 13.6 p.Leu220Pro Reduced 21.8 + - 5.4 p.Arg389His Present 40.6 + - 3.6 p.Arg554His Absent 1.0 + - 0.5 p.Ser606Leu Present 25 + - 1.5 p.Glu609Gly Absent 2.1 + - 1.3 p.Glu609Lys Absent 1.8 + - 0.9 p.Ala616Thr Absent 4.3 + - 1.7 p.Leu654Pro Absent 1.5 + - 1.3 p.Arg660Trp Absent 1.6 + - 0.8 p.His667Asp Absent 2.9 + - 1.0 p.Arg113fs Absent - Figure 3 Interaction of mammalian ABCD proteins with Arabidopsis Pex19 in vivo Tobacco plants stably expressing CFP-SKL were co-transfected with 35S::ABCD-YFP fusions andNLS-Pex19constructs.Leafepidermalcellswereimagedusingconfocalmicroscopy:(A-D) ALDP-YFP plus NLS-HsPex19; (E-H) ALDP-YFP plus NLS-AtPex19_1; (I-L) ALDR-YFP plus NLS-AtPex19_1. Login to comment

PMID: 14533738 [PubMed] Landgraf P et al: "Targeting of the human adrenoleukodystrophy protein to the peroxisomal membrane by an internal region containing a highly conserved motif."

No. Sentence Comment

127 Construct name n Strictly peroxisomal targeting (%) 1 ± 281 ALDP-GFP1 361 313 (86.7) * 1 ± 164 ALDP-GFP1 331 277 (83.7) * 1 ± 110 ALDP-GFP1 132 108 (81.8) * 282 ± 745 ALDP-GFP 218 0 (0) * 67 ± 164 ALDP-GFP 176 90 (51.1) 67 ± 134 ALDP-GFP 275 0 (0) * 78 ± 164 ALDP-GFP2 247 2 (0.8) * 87 ± 164 ALDP-GFP2 206 1 (0.5) * 67 ± 164 ALDP(F71S)-GFP3 363 143 (39.4) 67 ± 164 ALDP(F71V)-GFP3 203 90 (44.3) 67 ±; 164 ALDP(R74W)-GFP3 218 89 (40.8) 67 ± 164 ALDP(R74G)-GFP3 277 123 (44.4) 67 ± 164 ALDP(L78F)-GFP3 315 103 (32.7) * 67 ± 164 ALDP(L81V)-GFP3 363 199 (54.8) 67 ± 164 ALDP(P84A)-GFP3 413 196 (47.5) 67 ± 164 ALDP-delLLR-GFP4 224 0 (0) * Total number of cells (n) analysed that were transfected with various ALDP-GFP fusion constructs. Login to comment

PMID: 24480483 [PubMed] Engelen M et al: "X-linked adrenoleukodystrophy in women: a cross-sectional cohort study."

No. Sentence Comment

141 Table 1 Summary of symptoms and signs of all the female participating in the study Family Age (years) Urinary incontinence Faecal incontinence Gait disorder Sensory complaints Sensory disturbance Spasticity Weakness Pathological reflexes EDSS Mutation ABCD1 protein A 44 No No Yes No No No No Yes 1.0 p.Pro480Thr Absent A 56 Yes Yes No No No No No Yes 1.5 p.Pro480Thr Absent AA 45 No No No No No No No No 0 p.Arg660Trp Absent AA 59 Yes No Yes No No No Yes Yes 3.5 p.Arg660Trp Absent AA 75 Yes No Yes No Yes Yes Yes Yes 6.0 p.Arg660Trp Absent B 42 Yes Yes Yes No Yes Yes Yes Yes 4.0 p.Leu220Pro Reduced B 44 No No No No No No No No 0 p.Leu220Pro Reduced B 44 No No No No No No No No 0 p.Leu220Pro Reduced B 51 No No No Yes Yes No No No 1.0 p.Leu220Pro Reduced B 59 No No No Yes Yes No Yes No 2.0 p.Leu220Pro Reduced C 44 No No No No No No No No 0 p.Gln133* Absent D 38 Yes Yes Yes No Yes Yes Yes Yes 6.0 p.Leu654Pro Absent D 57 Yes No Yes Yes Yes No No Yes 5.5 p.Leu654Pro Absent E 31 No No No No No No No No 0 p.Arg74Trp Absent E 37 No No No No No No No No 0 p.Arg74Trp Absent E 60 No No Yes No Yes Yes Yes Yes 5.5 p.Arg74Trp Absent F 35 No No No No No No No No 0 p.Met1Val Absent G 42 No Yes No No No No No No 1.0 p.Ala245Asp Present H 61 Yes Yes Yes Yes Yes No No Yes 3.5 exon8-10del Absent I 71 No No No No Yes No No Yes 2.0 p.Glu609Lys Absent J 42 No No No No Yes No No Yes 1.5 p.Glu90* Absent K 31 No No No No No No No No 0 p.Pro543Leu Absent K 48 Yes No No No Yes No No Yes 2.5 p.Pro543Leu Absent K 57 No No Yes Yes Yes No Yes Yes 3.5 p.Pro543Leu Absent K 60 Yes No No No Yes No No Yes 3.5 p.Pro543Leu Absent L 51 Yes No Yes No Yes Yes Yes Yes 6.5 p.Ile657del Absent M 22 No No No No No No No No 0 p.Ser149Asn Reduced M 40 No No No No No No No No 0 p.Ser149Asn Reduced N 29 No No No No No No No No 0 p.Arg389His Reduced N 45 Yes No No Yes No No No No 2.0 p.Arg389His Reduced N 57 Yes Yes Yes Yes Yes No No No 3.5 p.Arg389His Reduced N 70 No No Yes No Yes No Yes Yes 3.5 p.Arg389His Reduced O 40 Yes Yes Yes Yes Yes No No Yes 3.5 p.Glu609Lys Absent P 59 Yes Yes Yes Yes Yes Yes Yes Yes 6.0 p.Leu215* Absent Q 39 No Yes Yes No Yes No No No 3.0 p.Val208Trpfs Absent R 28 No No No No No No No No 0 p.Pro480Thr Absent S 35 No No No No No No No No 0 p.His283Tyr Reduced (continued) Correlation studies of X-inactivation with asymptomatic or symptomatic status The distribution of ABCD1 allele-specific expression (which will be referred to as the pattern of X-inactivation) is shown in Fig. 5A. Login to comment