STUDIES ON COMPLEMENTATION OF BETA-HEXOSAMINIDASE DEFICIENCY IN HUMAN GM2 GANGLIOSIDOSIS

被引：0
|
作者：
RATTAZZI, MC
BROWN, JA
DAVIDSON, RG
SHOWS, TB
机构：
[1] SUNY, CHILDRENS HOSP, DEPT PEDIAT, DIV HUMAN GENET, BUFFALO, NY 14222 USA
[2] ROSWELL PK MEM INST, DEPT EXPTL BIOL, BUFFALO, NY 14203 USA
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1976年 / 28卷 / 02期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：143 / 154
页数：12
相关论文
共 50 条
  • [41] Establishment of immortalized Schwann cells from Sandhoff mice and corrective effect of recombinant human beta-hexosaminidase A on the accumulated GM2 ganglioside
    Kawashima, I
    Ohsawa, M.
    Kotani, M.
    Tajima, Y.
    Itoh, K.
    Watabe, K.
    Sakuraba, H.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 133 - 133
  • [42] Chaperone Therapy for GM2 Gangliosidosis: Effects of Pyrimethamine on β-Hexosaminidase Activity in Sandhoff Fibroblasts
    Chiricozzi, Elena
    Niemir, Natalia
    Aureli, Massimo
    Magini, Alessandro
    Loberto, Nicoletta
    Prinetti, Alessandro
    Bassi, Rosaria
    Polchi, Alice
    Emiliani, Carla
    Caillaud, Catherine
    Sonnino, Sandro
    MOLECULAR NEUROBIOLOGY, 2014, 50 (01) : 159 - 167
  • [43] Chaperone Therapy for GM2 Gangliosidosis: Effects of Pyrimethamine on β-Hexosaminidase Activity in Sandhoff Fibroblasts
    Elena Chiricozzi
    Natalia Niemir
    Massimo Aureli
    Alessandro Magini
    Nicoletta Loberto
    Alessandro Prinetti
    Rosaria Bassi
    Alice Polchi
    Carla Emiliani
    Catherine Caillaud
    Sandro Sonnino
    Molecular Neurobiology, 2014, 50 : 159 - 167
  • [44] ACTIVATING PROTEINS FOR GANGLIOSIDE GM2 DEGRADATION BY BETA-HEXOSAMINIDASE ISOENZYMES IN TISSUE-EXTRACTS FROM DIFFERENT SPECIES
    BURG, J
    BANERJEE, A
    CONZELMANN, E
    SANDHOFF, K
    HOPPE-SEYLERS ZEITSCHRIFT FUR PHYSIOLOGISCHE CHEMIE, 1983, 364 (07): : 821 - 829
  • [45] SANDHOFFS DISEASE - TOTAL DEFICIENCY OF HEXOSAMINIDASE (A AND B) AS CAUSE FOR ACCUMULATION OF GLOBOSIDE GM2 AND ASIALO GM2
    KRIVIT, W
    SNYDER, P
    SHARP, H
    DESNICK, R
    PEDIATRIC RESEARCH, 1972, 6 (01) : 56 - &
  • [46] THE HUMAN GM2 ACTIVATOR PROTEIN - A SUBSTRATE SPECIFIC COFACTOR OF BETA-HEXOSAMINIDASE-A
    MEIER, EM
    SCHWARZMANN, G
    FURST, W
    SANDHOFF, K
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1991, 266 (03) : 1879 - 1887
  • [47] GM2-GANGLIOSIDOSIS-B1 VARIANT - ANALYSIS OF BETA-HEXOSAMINIDASE ALPHA-GENE ABNORMALITIES IN 7 PATIENTS
    TANAKA, A
    OHNO, K
    SANDHOFF, K
    MAIRE, I
    KOLODNY, EH
    BROWN, A
    SUZUKI, K
    AMERICAN JOURNAL OF HUMAN GENETICS, 1990, 46 (02) : 329 - 339
  • [48] JUVENILE GM2 GANGLIOSIDOSIS (AMB VARIANT) - INABILITY TO ACTIVATE HEXOSAMINIDASE-A BY ACTIVATOR PROTEIN
    INUI, K
    GREBNER, EE
    JACKSON, LG
    WENGER, DA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1983, 35 (04) : 551 - 564
  • [49] GM2 GANGLIOSIDOSIS B1 VARIANT - BIOCHEMICAL AND MOLECULAR CHARACTERIZATION OF HEXOSAMINIDASE-A
    PELEG, L
    MELTZER, F
    KARPATI, M
    GOLDMAN, B
    BIOCHEMICAL AND MOLECULAR MEDICINE, 1995, 54 (02) : 126 - 132
  • [50] Genetics and Therapies for GM2 Gangliosidosis
    Cachon-Gonzalez, Maria Begoila
    Zaccariotto, Eva
    Cox, Timothy Martin
    CURRENT GENE THERAPY, 2018, 18 (02) : 68 - 89
12345