ABCMdb

ABCD1 p.Glu609Gly

None has been submitted yet.

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
169 Results are means + - S.D.; n = 3. significantly in response to low temperature in ten wild-type control lines tested (see Supplementary Figure S3A at http://www.BiochemJ.org/bj/436/bj4360547add.htm); however, increased expression levels of ALDP were found in several of the X-ALD fibroblasts investigated: p.Arg74Cys, p.Arg104Cys, p.Arg554His, p.Glu609Gly, p.Ala616Thr, p.Leu654Pro and p.Arg660Trp (Figures 4A and 4B). Login to comment
172 ALDP was increased from 2-4% to ~20% of wild-type levels in cell lines bearing the mutations p.Glu609Gly, p.Ala616Thr and p.Arg660Trp, from 1 to 10% in p.Glu609Lys and p.Arg554His cells and from 45 to 75% in the p.Asp194His cell line (Figure 4A). Login to comment
173 VLCFA β-oxidation was measured in cells that were cultured at 30◦ C for 72 h, but in only one case (p.Ala616Thr) was the capacity to degrade VLCFA restored to near-control levels (Figure 4C). Login to comment
176 Lines bearing the p.Glu609Gly and p.Asp194His mutations did not show any correction of the C26:0/C22:0 ratio (Figure 4D). 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
170 Results are means + - S.D.; n = 3. significantly in response to low temperature in ten wild-type control lines tested (see Supplementary Figure S3A at http://www.BiochemJ.org/bj/436/bj4360547add.htm); however, increased expression levels of ALDP were found in several of the X-ALD fibroblasts investigated: p.Arg74Cys, p.Arg104Cys, p.Arg554His, p.Glu609Gly, p.Ala616Thr, p.Leu654Pro and p.Arg660Trp (Figures 4A and 4B). Login to comment
177 Lines bearing the p.Glu609Gly and p.Asp194His mutations did not show any correction of the C26:0/C22:0 ratio (Figure 4D). Login to comment

PMID: 7825602 [PubMed] Ligtenberg MJ et al: "Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein."

No. Sentence Comment

85 The mutation T1045C created a novel HpaII site, which was confirmed Table 2 Mutations in the Putative ALD Gene in Patients Studied Genomic- Kindred Type of Mutation and Amino Acid Genomic-PCR Mutation Reference cDNA Alterationa Alterationb Exonc Primers Detectiond Phenotype' Number Missense: C696Tf ................ R104C (R) 1 303F + 821R 303F, 821R AMN 17 G832A ................ S149N (N) 1 702F + 1145R 702F, 931R AMN 8 G841C ................ R152P (K) 1 702F + 1145R 702F, 931R ChALD 27 G874Af ................ R163H (R) 1 702F + 931R 702F, 931R SympCar 14 G966C ................ D194H (D) 1 685F + 1145R 914F, 1145R ChALD 12 T1045C ................ L220P (L) 1 914F + 1145R HpaII AMN 7 G1182A ................. G266R (G) 1 702F + 1231R 914F,1231R AMN 24 G1552A ................. R389H (R) 3 1479F + 1861R 1479F,1752R AMN 20 (2X): G2211A................. E609K(E) 8 544F*+ 1078R*h 544F*, 876R* AMN 13,18 A2212G ................ E609G (E) 8 544F*+ 1078R*h 544F*, 876R* ChALD 5 C2235Tf................ R617C (R) 8 544F* + 2742R 544F*, 876R* ChALD 23 C2364Tf................ R660W (R) 9 544F* + 2742R 2312F, 1078R* AMN 21 Amino acid deletion: del 2355-2357 ........... del 1657(V) 9 849F* + 2478Rh 2312F,1078R* ChALD 6 Nonsense: C783Tf ................ Q133h 1 702F + 931R 702F, 931R ChALD 26 G797A ................ W137h 1 685F +1145R 702F,931R ChALD 10 C855T ................ Q157h 1 702F + 1145R 702F,931R AMN 9 C929A ................ Y181h 1 702F + 1145R HpaIl ChALD 15 Frameshift: delC442 ................ A19> 1 303F + 821R 303F,593R ChALD 2 del C663 ................ G92> 1 303F + 840R 576F, 821R ChALD 22 dell71-1178 ........... F261> 1 702F + 1231R 914F,1231R ChALD 28 (4X): del 1801-1802 ........... E471> 5 1781F + 1861R Polyacrylamide gel ChALD, AMN 3,4,16,25 alt 1989-2377 ........... P534> 6-9 1890F +2669R 1890F,1078R* AMN 11 Splice defect: de12021-2054 ........... R545> SA 7 1880F +2132R 1880F,2114R ChALD 1 ins 8 bp 2251f ............ R622> SA 9 849F* + 1078R*h 849F*, 1078R* AMN 19 a Nucleotide numbers refer to Mosser et al. (1993), EMBL database Z21876. Login to comment

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

No. Sentence Comment

163 Table 1 Continued Family Age (years) Urinary incontinence Faecal incontinence Gait disorder Sensory complaints Sensory disturbance Spasticity Weakness Pathological reflexes EDSS Mutation ABCD1 protein S 76 Yes No Yes No Yes No No Yes 2.0 p.His283Tyr Reduced T 51 Yes Yes Yes No Yes No Yes Yes 4.0 p.Gln177* Absent U 47 Yes Yes No No Yes No No No 2.0 p.Arg464* Absent V 56 Yes No Yes No Yes No Yes Yes 2.5 p.Asp442Glyfs Absent W 45 Yes Yes Yes Yes Yes No No Yes 3.5 p.Ala616Thr Absent W 65 No Yes No No No No No No 2.0 p.Ala616Thr Absent X 47 Yes No Yes No No No No Yes 2.5 p.Arg113Alafs Absent Y 24 No No No No No No No No 0 p.Glu609Gly a Absent a Z 50 No No No No Yes No No Yes 2.0 p.Ser633Argfs Absent Age = age at examination; urinary incontinence = urge incontinence; faecal incontinence = soiling and urge incontinence; gait = gait disorder, for instance unable to run; sensory complaints = numbness or tingling; sensory disturbance = sensory symptoms on neurological examinations; spasticity = spasticity of the lower extremities; weakness = paresis of the lower extremities, Pathological reflexes: pathological reflexes in the lower extremities, EDSS = expanded disability status scale; mutation = mutation in ABCD1; ABCD1 protein = effect of mutation in ABCD1 on ABCD1 protein as determined by immunoblot. Login to comment