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    Human porphobilinogen deaminase sequences
    3.
    发明授权
    Human porphobilinogen deaminase sequences 有权
    人胆色素原脱氨酶序列

    公开(公告)号：US06537777B1

    公开(公告)日：2003-03-25

    申请号：US09358856

    申请日：1999-07-22

    申请人： Par Gellerfors ,  Jens Fogh

    发明人： Par Gellerfors ,  Jens Fogh

    IPC分类号： C12P2106

    CPC分类号： C12N9/88 ,  C12Y205/01061

    摘要： A method for treatment or prophylaxis of disease caused by deficiency, in a subject, of an enzyme belonging to the heme biosynthetic pathway, the method comprising administering, to the subject, an effective amount of a catalyst which is an enzyme or an enzymatically equivalent part or analogue thereof. The disease is selected from the group consisting of acute intermittent porphyria (AIP), ALA deficiency porphyria (ADP), Porphyria cutanea tarda (PCT), Hereditary coproporphyria (HCP), Harderoporphyria (HDP), Variegata prophyria (VP), Congenital erthropoetic porphyria (CEP), Erythropoietic protoporphyria (EPP), and Hepatoerythropoietic porphyria (HEP). The catalyst is one or more enzymes selected from the group consisting of delta-aminolevulininic acid synthetase, delta-aminolevulinic acid dehydratase (ALAD), porphobilinogen deaminase (PBGD), uroporphyrinogen III cosythetase, uroporphyrinogen decarboxylase, coproporphyrinogen oxidase, protoporphyrinogen oxidase, and ferrochelatase, or an enzymatically equivalent part or analogue thereof. In addition the invention relates to the use of PBGD, to human recombinant PBGD and to a method of gene therapy. The invention also relates to an expression plasmid pExp1-M2-BB (Seq. ID No. 1) and to use of a DNA fragment, the EcoRI-Hind III linear fragment (seq. ID No. 2), used for transformation in the hemC disruption strategy for production of rhPBGD expressed in E. coli.

    摘要翻译： 一种用于治疗或预防受试者由属于血红素生物合成途径的酶引起的疾病的方法，所述方法包括向所述受试者施用有效量的作为酶或酶等价部分的催化剂 或其类似物。 该疾病选自急性间歇性卟啉症（AIP），ALA缺乏性卟啉症（ADP），卟啉症绦虫（PCT），遗传性共挫折症（HCP），硬毛霉素（HDP），瓦氏病卟啉症（VP），先天性埃及卟啉症 （CEP），红细胞生成原始疟原虫（EPP）和肝造影卟啉症（HEP）。 催化剂是一种或多种选自δ-氨基乙酰丙酸合成酶，δ-氨基乙酰丙酸脱水酶（ALAD），胆色素原脱氨酶（PBGD），尿卟啉原III舒适酶，尿卟啉原脱羧酶，cop卟啉原氧化酶，原卟啉原氧化酶和铁螯合酶的一种或多种酶， 或其酶等同部分或类似物。 此外，本发明涉及PBGD，人重组PBGD和基因治疗方法的用途。 本发明还涉及表达质粒pExp1-M2-BB（Seq.ID No.1），并且使用DNA片段，用于转化的EcoRI-Hind III线性片段（seq.ID No.2） 用于生产在大肠杆菌中表达的rhPBGD的hemC破坏策略。

    Therapeutic method for treating patients with acute intermittent porphyria (AIP) and other porphyric diseases
    5.
    发明申请
    Therapeutic method for treating patients with acute intermittent porphyria (AIP) and other porphyric diseases 审中-公开
    治疗急性间歇性卟啉症（AIP）和其他斑ric病患者的治疗方法

    公开(公告)号：US20030223979A1

    公开(公告)日：2003-12-04

    申请号：US10393269

    申请日：2003-03-21

    发明人： Par Gellerfors ,  Jens Fogh

    IPC分类号： A61K048/00 ,  A61K038/44 ,  C12P021/02 ,  C12N005/06

    CPC分类号： C12N9/88 ,  C12Y205/01061

    摘要： A method for treatment or prophylaxis of disease caused by deficiency, in a subject, of an enzyme belonging to the heme biosynthetic pathway, the method comprising administering, to the subject, an effective amount of a catalyst which is said enzyme or an enzymatically equivalent part or analogue thereof. The disease is selected from the group consisting of acute intermittent porphyria (AIP), ALA deficiency porphyria (ADP), Porphyria cutanea tarda (PCT), Hereditary coproporphyria (HCP), Harderoporphyria (HDP), Variegata porphyria (VP), Congenital erythropoetic porphyria (CEP), Erythropoietic protoporphyria (EPP), and Hepatoerythropoietic porphyria (HEP). The catalyst is one or more enzymes selected from the group consisting of delta-aminolevulininic acid synthetase, delta-aminolevulinic acid dehydratase (ALAD), porphobilinogen deaminase (PBGD), uroporphyrinogen III cosythetase, uroporphyrinogen decarboxylase, coproporphyrinogen oxidase, protoporphyrinogen oxidase, and ferrochelatase, or an enzymatically equivalent part or analogue thereof. In addition the invention relates to the use of PBGD, to human recombinant PBGD and to a method of gene therapy. The invention also relates to an expression plasmid pExp1-M2-BB (Seq. ID No. 1) and to use of a DNA fragment, the EcoR I-Hind III linear fragment (seq. ID No. 2), used for transformation in the hemC disruption strategy for production of rhPBGD expressed in E. coli.

    摘要翻译： 一种用于治疗或预防受试者由属于血红素生物合成途径的酶引起的疾病的方法，所述方法包括向所述受试者施用有效量的所述酶或酶等价部分的催化剂 或其类似物。 该疾病选自急性间歇性卟啉症（AIP），ALA缺乏性卟啉症（ADP），白喉卟啉症（PCT），遗传性共挫折症（HCP），硬性痴呆症（HDP），瓦氏卟啉症（VP），先天性红细胞卟啉症 （CEP），红细胞生成原始疟原虫（EPP）和肝造影卟啉症（HEP）。 催化剂是一种或多种选自δ-氨基乙酰丙酸合成酶，δ-氨基乙酰丙酸脱水酶（ALAD），胆色素原脱氨酶（PBGD），尿卟啉原III舒适酶，尿卟啉原脱羧酶，cop卟啉原氧化酶，原卟啉原氧化酶和铁螯合酶的一种或多种酶， 或其酶等同部分或类似物。 此外，本发明涉及PBGD，人重组PBGD和基因治疗方法的用途。 本发明还涉及表达质粒pExp1-M2-BB（Seq.ID No.1），并且使用DNA片段，用于转化的EcoR I-Hind III线性片段（seq.ID No.2） 用于生产在大肠杆菌中表达的rhPBGD的hemC破坏策略。