ABCD1 p.Gly607Asp
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PMID: 22045812
[PubMed]
Hillebrand M et al: "Identification of a new fatty acid synthesis-transport machinery at the peroxisomal membrane."
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231
We analyzed, whether five missense mutations in the ABCD1 gene known to be associated with near normal ALDP protein amounts (G116R, S514N, G607D, G629H, and T693M) would induce edgetic perturbations by altering ALDP homo-oligomerization or the interaction of ALDP with FASN, ACLY, or FATP4 (Fig. 5).
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ABCD1 p.Gly607Asp 22045812:231:139
status: NEW227 We analyzed, whether five missense mutations in the ABCD1 gene known to be associated with near normal ALDP protein amounts (G116R, S514N, G607D, G629H, and T693M) would induce edgetic perturbations by altering ALDP homo-oligomerization or the interaction of ALDP with FASN, ACLY, or FATP4 (Fig. 5).
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ABCD1 p.Gly607Asp 22045812:227:139
status: NEW229 Conversely, S514N and G607D increased the BRET ratio for the interaction of ALDP with FASN, whereas G116R had the same effect on the interaction between ALDP and ACLY.
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ABCD1 p.Gly607Asp 22045812:229:139
status: NEW