Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease

被引：0
|
作者：
Yuehong Chen
Jinlong Jian
Aubryanna Hettinghouse
Xueheng Zhao
Kenneth D. R. Setchell
Ying Sun
Chuan-ju Liu
机构：
[1] New York University Medical Center,Department of Orthopaedic Surgery
[2] Sichuan University,Department of Rheumatology and Immunology, West China Hospital
[3] Cincinnati Children’s Hospital Medical Center,The Division of Human Genetics
[4] New York University School of Medicine,Department of Cell Biology
来源：
Journal of Molecular Medicine | 2018年 / 96卷
关键词：
Tay-Sachs disease; Lysosome storage disease; Hexosaminidase A; Progranulin; Pcgin;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：1359 / 1373
页数：14
相关论文
共 50 条
  • [31] Restoration of the GM2 ganglioside metabolism in bone marrow-derived stromal cells from Tay-Sachs disease animal model
    Martino, S
    Cavalieri, C
    Emiliani, C
    Dolcetta, D
    De Angelis, MGC
    Chigorno, V
    Severini, GM
    Sandhoff, K
    Bordignon, C
    Sonnino, S
    Orlacchio, A
    NEUROCHEMICAL RESEARCH, 2002, 27 (7-8) : 793 - 800
  • [32] DIAGNOSIS OF TAY-SACHS DISEASE USING [H-3] N-ACETYLNEURAMINIC ACID LABELED GM2 GANGLIOSIDE AS SUBSTRATE
    POULOS, A
    HOLDING, J
    CAREY, WF
    CLINICA CHIMICA ACTA, 1982, 120 (03) : 331 - 340
  • [33] Demonstration of the in cellulo efficacy of pyrimethamine as a pharmacological chaperone for late onset Tay-Sachs Disease using a fluorescent GM2 ganglioside analogue
    Mahuran, Don
    Tropak, Michael
    Bukovac, Scott
    Rigat, Brigitte
    Yonekawa, Sayuri
    Wakarchuk, Warren
    MOLECULAR GENETICS AND METABOLISM, 2010, 99 (02) : S26 - S26
  • [34] TAY-SACHS DISEASE BRAIN-CELLS IN CULTURE - MOBILIZATION OF STORED GM2 AFTER CONCANAVALIN A-MEDIATED UPTAKE OF HEXOSAMINIDASE-A
    HOFFMAN, LM
    BROOKS, SE
    AMSTERDAM, D
    OROPELLO, J
    SCHNECK, L
    JOURNAL OF NEUROSCIENCE RESEARCH, 1980, 5 (05) : 413 - 417
  • [35] Abnormal GM2 accumulation alters the function of the autophagic pathway in early-onset Tay-Sachs disease mouse model
    Seyrantepe, Volkan
    Ates, Nurselin
    Can, Melike
    Sengul, Tugce
    Demir, Secil Akyildiz
    MOLECULAR GENETICS AND METABOLISM, 2018, 123 (02) : S129 - S130
  • [36] DETECTION OF GM2-GANGLIOSIDOSIS (TAY-SACHS AND SANDHOFF DISEASE) GENE CARRIERS BY SERUM HEXOSAMINIDASE ASSAY
    MOLZER, B
    BERNHEIMER, H
    CLINICA CHIMICA ACTA, 1976, 73 (01) : 163 - 169
  • [37] Unravelling the differences between infantile Tay-Sachs and Sandhoff disease using the GM2 Disease Registry (GM2DR)
    Lewi, Daniel
    Furegato, Martina
    Brignoli, Lysel
    Matos, Joana E.
    MOLECULAR GENETICS AND METABOLISM, 2021, 132 (02) : S64 - S64
  • [38] TAY-SACHS DISEASE WITH HEXOSAMINIDASE-A - CHARACTERIZATION OF THE DEFECTIVE ENZYME IN 2 PATIENTS
    BAYLERAN, J
    HECHTMAN, P
    KOLODNY, E
    KABACK, M
    AMERICAN JOURNAL OF HUMAN GENETICS, 1987, 41 (04) : 532 - 548
  • [39] Degradation of membrane-bound ganglioside GM2 by β-hexosaminidase A -: Stimulation by GM2 activator protein and lysosomal lipids
    Werth, N
    Schuette, CG
    Wilkening, G
    Lemm, T
    Sandhoff, K
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (16) : 12685 - 12690
  • [40] Infantile Monosialoganglioside2 (GM2) Gangliosidosis With Concurrent Bronchopneumonia: An Extraordinary Case of Tay-Sachs Disease
    Grezenko, Han
    Al-Deir, Shadi S.
    Eshete, Filagot D.
    Faran, Nuzhat
    Mimms, Ciara S.
    Ibrahim, Muhammad
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2024, 16 (01)
12345