ABCD1 p.Ser213Cys
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PMID: 15128429
[PubMed]
Ding C et al: "Simultaneous quantitative and allele-specific expression analysis with real competitive PCR."
No.
Sentence
Comment
132
The ddNTPs/dNTP mixtures are: ddATP/ddCTP/ddGTP/dTTP for interleukin 6 and ABCD1 Q672X, ddTTP/ddCTP/ddGTP/dATP for lexA, and ddATP/ddCTP/ddTTP/dGTP for ABCD-1 S108W and S213C.
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ABCD1 p.Ser213Cys 15128429:132:169
status: NEW
PMID: 11063720
[PubMed]
Unterrainer G et al: "Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy."
No.
Sentence
Comment
49
Average transfection efficiency was determined in three independent experiments and was 14% for the ALDP-deficient cell line (range 10-17%), 20% for the D194H cell line (range 15-23%), 26% for the S213C cells and 24% for the N148S cell line (range 22-30%).
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ABCD1 p.Ser213Cys 11063720:49:197
status: NEW149 Of the three mutations analysed in transient transfection assays, N148S and S213C are located in transmembrane domains, whereas D194H is in the first cytosolic loop of the ALDP (Fig. 6).
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ABCD1 p.Ser213Cys 11063720:149:76
status: NEW150 In yeast two-hybrid experiments performed with ALDP lacking the N-terminal 361 amino acids, homodimers still formed (13), arguing against the possibility that the three mutations N148S, D194H and S213C interfere with dimerization of ALDP.
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ABCD1 p.Ser213Cys 11063720:150:196
status: NEW155 Missense mutations N148S and S213C are both located within putative transmembrane domains and D194H is located in the first cytosolic loop.
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ABCD1 p.Ser213Cys 11063720:155:29
status: NEW161 12 in ref. 30) were provided by Dr Wanders (Amsterdam) and cell line S213C (31) was obtained from Drs Holzinger and Roscher (Munich).
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ABCD1 p.Ser213Cys 11063720:161:69
status: NEW