ABCA3 p.Glu690Asp
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PMID: 18676873
[PubMed]
Matsumura Y et al: "Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease."
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24
On the other hand, patients with the common missense mutation E292V and a second, specific mutation such as E690K or T1114M develop pediatric interstitial lung disease (pILD), the phenotype of which is milder than that of fatal surfactant deficiency, suggesting that the E292V ABCA3 mutation is responsible for the development of pILD (4).
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ABCA3 p.Glu690Asp 18676873:24:272
status: NEW29 The plasmid pEGFPN1-ABCA3 (17), which encodes ABCA3 protein fused with enhanced green fluorescent protein (GFP) at the COOH terminus (ABCA3-GFP), and its mutants containing pILD mutations (E292V, E690K, and T1114M) and other site-directed mutations (E292D, E292K, T1114S, E690D, and E690R) were generated as described previously and used for transient transfection experiment.
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ABCA3 p.Glu690Asp 18676873:29:272
status: NEW214 Accordingly, Glu690 was substituted with Asp and Arg, which are negatively and positively charged, respectively.
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ABCA3 p.Glu690Asp 18676873:214:13
status: NEW247 A: 20,000-g membrane fraction prepared from HEK-293 cells stably expressing the WT ABCA3-GFP (lanes 3 and 4), E690K (lanes 5 and 6), E690D (lanes 7 and 8), E690R (lanes 9 and 10), or untransfected HEK-293 cells (lanes 1 and 2) was incubated with 10 M 8-azido-[␣-32 P]ATP in the absence or presence of 0.4 mM Vi and 3 mM MgCl2 for 10 min at 37°C. Protein was photoaffinity labeled with UV irradiation after removal of unbound ATP, electrophoresed on SDS-PAGE, and transferred to a PVDF membrane. Membrane was analyzed by autoradiography (top) and IB using anti-GFP antibody (bottom).
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ABCA3 p.Glu690Asp 18676873:247:133
status: NEW211 Accordingly, Glu690 was substituted with Asp and Arg, which are negatively and positively charged, respectively.
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ABCA3 p.Glu690Asp 18676873:211:13
status: NEW244 A: 20,000-g membrane fraction prepared from HEK-293 cells stably expressing the WT ABCA3-GFP (lanes 3 and 4), E690K (lanes 5 and 6), E690D (lanes 7 and 8), E690R (lanes 9 and 10), or untransfected HEK-293 cells (lanes 1 and 2) was incubated with 10 òe;M 8-azido-[ॷ-32 P]ATP in the absence or presence of 0.4 mM Vi and 3 mM MgCl2 for 10 min at 37&#b0;C. Protein was photoaffinity labeled with UV irradiation after removal of unbound ATP, electrophoresed on SDS-PAGE, and transferred to a PVDF membrane. Membrane was analyzed by autoradiography (top) and IB using anti-GFP antibody (bottom).
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ABCA3 p.Glu690Asp 18676873:244:133
status: NEW