ABCMdb

ABCD1 p.Leu78Phe

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Publications

PMID: 21488864 [PubMed] Kemp S et al: "Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance."

No. Sentence Comment

162 For example, the missense mutation p.Leu78Phe significantly reduced the targeting efficiency and an in-frame deletion of three amino acids (p.Arg80_Leu82del) resulted in the mislocalization of ALDP to the nucleus, cytosol and mitochondria (Landgraf et al., 2003). 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

7 The single amino acid substitution L78F resulted in a significant reduction of targeting efficiency. Login to 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
149 The percentage of 67 ± 164 ALDP(L78F)-GFP-transfected cells exhibiting a strictly peroxisomal pattern significantly (p < 0.01) differed as compared to the wild-type 67 ± 164 ALDP-GFP (Table II) suggesting a decrease in targeting efficiency. Login to comment
179 Among several single-amino-acid substitutions of conserved residues only the 67 ± 164 ALDP(L78F)-GFP construct significantly reduced targeting efficiency. Login to comment