Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy
Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Coulter-Mackie, Marion B. [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2014transfer abstract |
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| Umfang: |
5 |
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| Übergeordnetes Werk: |
Enthalten in: Measles transmission during a large outbreak in California - Worden, Lee ELSEVIER, 2019, Orlando, Fla |
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| Übergeordnetes Werk: |
volume:111 ; year:2014 ; number:4 ; pages:462-466 ; extent:5 |
| Links: |
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| DOI / URN: |
10.1016/j.ymgme.2014.02.010 |
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| 245 | 1 | 0 | |a Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy |
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| 520 | |a Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a recombinant human antiquitin cDNA with expression in E. coli at either 30°C or 37°C. One mutation, p.C450S, demonstrated substantial activity after expression at both temperatures, potentially contributing to milder biochemical and clinical phenotypes. The p.Q425R mutation yielded no activity at either temperature. The other two mutations yielded significant enzymatic activity at 30°C and markedly reduced activity at 37°C. For these latter three mutations, the markedly reduced or absent enzymatic activity resulting from expression at 37°C may be consistent with pathogenicity. | ||
| 520 | |a Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a recombinant human antiquitin cDNA with expression in E. coli at either 30°C or 37°C. One mutation, p.C450S, demonstrated substantial activity after expression at both temperatures, potentially contributing to milder biochemical and clinical phenotypes. The p.Q425R mutation yielded no activity at either temperature. The other two mutations yielded significant enzymatic activity at 30°C and markedly reduced activity at 37°C. For these latter three mutations, the markedly reduced or absent enzymatic activity resulting from expression at 37°C may be consistent with pathogenicity. | ||
| 700 | 1 | |a Tiebout, Sylvia |4 oth | |
| 700 | 1 | |a van Karnebeek, Clara |4 oth | |
| 700 | 1 | |a Stockler, Sylvia |4 oth | |
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10.1016/j.ymgme.2014.02.010 doi GBVA2014018000023.pica (DE-627)ELV022980202 (ELSEVIER)S1096-7192(14)00074-2 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 44.75 bkl Coulter-Mackie, Marion B. verfasserin aut Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy 2014transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a recombinant human antiquitin cDNA with expression in E. coli at either 30°C or 37°C. One mutation, p.C450S, demonstrated substantial activity after expression at both temperatures, potentially contributing to milder biochemical and clinical phenotypes. The p.Q425R mutation yielded no activity at either temperature. The other two mutations yielded significant enzymatic activity at 30°C and markedly reduced activity at 37°C. For these latter three mutations, the markedly reduced or absent enzymatic activity resulting from expression at 37°C may be consistent with pathogenicity. Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a recombinant human antiquitin cDNA with expression in E. coli at either 30°C or 37°C. One mutation, p.C450S, demonstrated substantial activity after expression at both temperatures, potentially contributing to milder biochemical and clinical phenotypes. The p.Q425R mutation yielded no activity at either temperature. The other two mutations yielded significant enzymatic activity at 30°C and markedly reduced activity at 37°C. For these latter three mutations, the markedly reduced or absent enzymatic activity resulting from expression at 37°C may be consistent with pathogenicity. Tiebout, Sylvia oth van Karnebeek, Clara oth Stockler, Sylvia oth Enthalten in Academic Press Worden, Lee ELSEVIER Measles transmission during a large outbreak in California 2019 Orlando, Fla (DE-627)ELV003843262 volume:111 year:2014 number:4 pages:462-466 extent:5 https://doi.org/10.1016/j.ymgme.2014.02.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.75 Infektionskrankheiten parasitäre Krankheiten Medizin VZ AR 111 2014 4 462-466 5 045F 610 |
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10.1016/j.ymgme.2014.02.010 doi GBVA2014018000023.pica (DE-627)ELV022980202 (ELSEVIER)S1096-7192(14)00074-2 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 44.75 bkl Coulter-Mackie, Marion B. verfasserin aut Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy 2014transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a recombinant human antiquitin cDNA with expression in E. coli at either 30°C or 37°C. One mutation, p.C450S, demonstrated substantial activity after expression at both temperatures, potentially contributing to milder biochemical and clinical phenotypes. The p.Q425R mutation yielded no activity at either temperature. The other two mutations yielded significant enzymatic activity at 30°C and markedly reduced activity at 37°C. For these latter three mutations, the markedly reduced or absent enzymatic activity resulting from expression at 37°C may be consistent with pathogenicity. Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a recombinant human antiquitin cDNA with expression in E. coli at either 30°C or 37°C. One mutation, p.C450S, demonstrated substantial activity after expression at both temperatures, potentially contributing to milder biochemical and clinical phenotypes. The p.Q425R mutation yielded no activity at either temperature. The other two mutations yielded significant enzymatic activity at 30°C and markedly reduced activity at 37°C. For these latter three mutations, the markedly reduced or absent enzymatic activity resulting from expression at 37°C may be consistent with pathogenicity. Tiebout, Sylvia oth van Karnebeek, Clara oth Stockler, Sylvia oth Enthalten in Academic Press Worden, Lee ELSEVIER Measles transmission during a large outbreak in California 2019 Orlando, Fla (DE-627)ELV003843262 volume:111 year:2014 number:4 pages:462-466 extent:5 https://doi.org/10.1016/j.ymgme.2014.02.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.75 Infektionskrankheiten parasitäre Krankheiten Medizin VZ AR 111 2014 4 462-466 5 045F 610 |
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10.1016/j.ymgme.2014.02.010 doi GBVA2014018000023.pica (DE-627)ELV022980202 (ELSEVIER)S1096-7192(14)00074-2 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 44.75 bkl Coulter-Mackie, Marion B. verfasserin aut Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy 2014transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a recombinant human antiquitin cDNA with expression in E. coli at either 30°C or 37°C. One mutation, p.C450S, demonstrated substantial activity after expression at both temperatures, potentially contributing to milder biochemical and clinical phenotypes. The p.Q425R mutation yielded no activity at either temperature. The other two mutations yielded significant enzymatic activity at 30°C and markedly reduced activity at 37°C. For these latter three mutations, the markedly reduced or absent enzymatic activity resulting from expression at 37°C may be consistent with pathogenicity. Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a recombinant human antiquitin cDNA with expression in E. coli at either 30°C or 37°C. One mutation, p.C450S, demonstrated substantial activity after expression at both temperatures, potentially contributing to milder biochemical and clinical phenotypes. The p.Q425R mutation yielded no activity at either temperature. The other two mutations yielded significant enzymatic activity at 30°C and markedly reduced activity at 37°C. For these latter three mutations, the markedly reduced or absent enzymatic activity resulting from expression at 37°C may be consistent with pathogenicity. Tiebout, Sylvia oth van Karnebeek, Clara oth Stockler, Sylvia oth Enthalten in Academic Press Worden, Lee ELSEVIER Measles transmission during a large outbreak in California 2019 Orlando, Fla (DE-627)ELV003843262 volume:111 year:2014 number:4 pages:462-466 extent:5 https://doi.org/10.1016/j.ymgme.2014.02.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.75 Infektionskrankheiten parasitäre Krankheiten Medizin VZ AR 111 2014 4 462-466 5 045F 610 |
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10.1016/j.ymgme.2014.02.010 doi GBVA2014018000023.pica (DE-627)ELV022980202 (ELSEVIER)S1096-7192(14)00074-2 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 44.75 bkl Coulter-Mackie, Marion B. verfasserin aut Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy 2014transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a recombinant human antiquitin cDNA with expression in E. coli at either 30°C or 37°C. One mutation, p.C450S, demonstrated substantial activity after expression at both temperatures, potentially contributing to milder biochemical and clinical phenotypes. The p.Q425R mutation yielded no activity at either temperature. The other two mutations yielded significant enzymatic activity at 30°C and markedly reduced activity at 37°C. For these latter three mutations, the markedly reduced or absent enzymatic activity resulting from expression at 37°C may be consistent with pathogenicity. Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a recombinant human antiquitin cDNA with expression in E. coli at either 30°C or 37°C. One mutation, p.C450S, demonstrated substantial activity after expression at both temperatures, potentially contributing to milder biochemical and clinical phenotypes. The p.Q425R mutation yielded no activity at either temperature. The other two mutations yielded significant enzymatic activity at 30°C and markedly reduced activity at 37°C. For these latter three mutations, the markedly reduced or absent enzymatic activity resulting from expression at 37°C may be consistent with pathogenicity. Tiebout, Sylvia oth van Karnebeek, Clara oth Stockler, Sylvia oth Enthalten in Academic Press Worden, Lee ELSEVIER Measles transmission during a large outbreak in California 2019 Orlando, Fla (DE-627)ELV003843262 volume:111 year:2014 number:4 pages:462-466 extent:5 https://doi.org/10.1016/j.ymgme.2014.02.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.75 Infektionskrankheiten parasitäre Krankheiten Medizin VZ AR 111 2014 4 462-466 5 045F 610 |
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10.1016/j.ymgme.2014.02.010 doi GBVA2014018000023.pica (DE-627)ELV022980202 (ELSEVIER)S1096-7192(14)00074-2 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 44.75 bkl Coulter-Mackie, Marion B. verfasserin aut Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy 2014transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a recombinant human antiquitin cDNA with expression in E. coli at either 30°C or 37°C. One mutation, p.C450S, demonstrated substantial activity after expression at both temperatures, potentially contributing to milder biochemical and clinical phenotypes. The p.Q425R mutation yielded no activity at either temperature. The other two mutations yielded significant enzymatic activity at 30°C and markedly reduced activity at 37°C. For these latter three mutations, the markedly reduced or absent enzymatic activity resulting from expression at 37°C may be consistent with pathogenicity. Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a recombinant human antiquitin cDNA with expression in E. coli at either 30°C or 37°C. One mutation, p.C450S, demonstrated substantial activity after expression at both temperatures, potentially contributing to milder biochemical and clinical phenotypes. The p.Q425R mutation yielded no activity at either temperature. The other two mutations yielded significant enzymatic activity at 30°C and markedly reduced activity at 37°C. For these latter three mutations, the markedly reduced or absent enzymatic activity resulting from expression at 37°C may be consistent with pathogenicity. Tiebout, Sylvia oth van Karnebeek, Clara oth Stockler, Sylvia oth Enthalten in Academic Press Worden, Lee ELSEVIER Measles transmission during a large outbreak in California 2019 Orlando, Fla (DE-627)ELV003843262 volume:111 year:2014 number:4 pages:462-466 extent:5 https://doi.org/10.1016/j.ymgme.2014.02.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.75 Infektionskrankheiten parasitäre Krankheiten Medizin VZ AR 111 2014 4 462-466 5 045F 610 |
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We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a recombinant human antiquitin cDNA with expression in E. coli at either 30°C or 37°C. One mutation, p.C450S, demonstrated substantial activity after expression at both temperatures, potentially contributing to milder biochemical and clinical phenotypes. The p.Q425R mutation yielded no activity at either temperature. The other two mutations yielded significant enzymatic activity at 30°C and markedly reduced activity at 37°C. 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overexpression of recombinant human antiquitin in e. coli: partial enzyme activity in selected aldh7a1 missense mutations associated with pyridoxine-dependent epilepsy |
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Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy |
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Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a recombinant human antiquitin cDNA with expression in E. coli at either 30°C or 37°C. One mutation, p.C450S, demonstrated substantial activity after expression at both temperatures, potentially contributing to milder biochemical and clinical phenotypes. The p.Q425R mutation yielded no activity at either temperature. The other two mutations yielded significant enzymatic activity at 30°C and markedly reduced activity at 37°C. For these latter three mutations, the markedly reduced or absent enzymatic activity resulting from expression at 37°C may be consistent with pathogenicity. |
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Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a recombinant human antiquitin cDNA with expression in E. coli at either 30°C or 37°C. One mutation, p.C450S, demonstrated substantial activity after expression at both temperatures, potentially contributing to milder biochemical and clinical phenotypes. The p.Q425R mutation yielded no activity at either temperature. The other two mutations yielded significant enzymatic activity at 30°C and markedly reduced activity at 37°C. For these latter three mutations, the markedly reduced or absent enzymatic activity resulting from expression at 37°C may be consistent with pathogenicity. |
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Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a recombinant human antiquitin cDNA with expression in E. coli at either 30°C or 37°C. One mutation, p.C450S, demonstrated substantial activity after expression at both temperatures, potentially contributing to milder biochemical and clinical phenotypes. The p.Q425R mutation yielded no activity at either temperature. The other two mutations yielded significant enzymatic activity at 30°C and markedly reduced activity at 37°C. For these latter three mutations, the markedly reduced or absent enzymatic activity resulting from expression at 37°C may be consistent with pathogenicity. |
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Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy |
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