GM3 synthase deficiency: A disorder of ganglioside biosynthesis presenting as an infantile epilepsy

被引：0
|
作者：
Wiznitzer, M
Wang, H
Proukakis, C
Cross, H
Maxwell, K
Gurtz, K
Crosby, A
机构：
来源：
ANNALS OF NEUROLOGY | 2005年 / 58卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：S102 / S102
页数：1
相关论文
共 50 条
  • [21] The total synthesis of ganglioside GM3
    Duclos, RI
    CARBOHYDRATE RESEARCH, 2000, 328 (04) : 489 - 507
  • [22] Alteration of ganglioside synthesis by GM3 synthase knockout in murine embryonic fibroblasts
    Shevchuk, Nikolai A.
    Hathout, Yetrib
    Epifano, Olga
    Su, Yan
    Liu, Yihui
    Sutherland, Margaret
    Ladisch, Stephan
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS, 2007, 1771 (09): : 1226 - 1234
  • [23] Expression cloning and functional characterization of human cDNA for ganglioside GM3 synthase
    Ishii, A
    Ohta, M
    Watanabe, Y
    Matsuda, K
    Ishiyama, K
    Sakoe, K
    Nakamura, M
    Inokuchi, J
    Sanai, Y
    Saito, M
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1998, 273 (48) : 31652 - 31655
  • [24] Activation of Ganglioside GM3 Biosynthesis in Human Blood Mononuclear Cells in Atherosclerosis
    Gracheva, E. V.
    Samovilova, N. N.
    Golovanova, N. K.
    Piksina, G. F.
    Shishkina, V. S.
    Prokazova, N. V.
    BIOCHEMISTRY MOSCOW-SUPPLEMENT SERIES B-BIOMEDICAL CHEMISTRY, 2012, 6 (03) : 266 - 272
  • [25] GM3 GANGLIOSIDOSIS - NEW LIPID STORAGE DISEASE WITH A DEFECT IN GANGLIOSIDE BIOSYNTHESIS
    MAX, SR
    MACLAREN, NK
    BRADY, RO
    FISHMAN, P
    TALLMAN, J
    GARCIA, JH
    CORNBLATH, M
    TANAKA, J
    VILORIA, JE
    KAMIJYO, Y
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1975, 34 (01): : 91 - 92
  • [26] GM3 synthase deficiency causes lysosomal and mitochondria impairment
    Carsana, Emma Veronica
    Lunghi, Giulia
    Loberto, Nicoletta
    Inamori, Kei-Ichiro
    Inokuchi, Jin-Ichi
    Sonnino, Sandro
    Chiricozzi, Elena
    Fazzari, Maria
    JOURNAL OF NEUROCHEMISTRY, 2023, 166 : 154 - 154
  • [27] GM3 synthase deficiency in non-Amish patients
    Heide, Solveig
    Jacquemont, Marie-Line
    Cheillan, David
    Renouil, Michel
    Tallot, Marilyn
    Schwartz, Charles E.
    Miquel, Juliette
    Bintner, Marc
    Rodriguez, Diana
    Darcel, Francoise
    Buratti, Julien
    Haye, Damien
    Passemard, Sandrine
    Gras, Domitille
    Perrin, Laurence
    Capri, Yline
    Gerard, Benedicte
    Piton, Amelie
    Keren, Boris
    Thauvin-Robinet, Christel
    Duffourd, Yannis
    Faivre, Laurence
    Poe, Charlotte
    Perville, Anne
    Heron, Delphine
    Thevenon, Julien
    Arnaud, Lionel
    LeGuern, Eric
    La Selva, Lorita
    Vetro, Annalisa
    Guerrini, Renzo
    Nava, Caroline
    Mignot, Cyril
    GENETICS IN MEDICINE, 2022, 24 (02) : 492 - 498
  • [28] Activation of ganglioside GM3 biosynthesis in human blood mononuclear cells in atherosclerosis
    E. V. Gracheva
    N. N. Samovilova
    N. K. Golovanova
    G. F. Piksina
    V. S. Shishkina
    N. V. Prokazova
    Biochemistry (Moscow) Supplement Series B: Biomedical Chemistry, 2012, 6 (3) : 266 - 272
  • [29] GM2 synthase/GM3 synthase knockout transformed fibroblasts: a tumor model of complete ganglioside depletion
    Liu, Yihui
    Su, Yan
    Weiss, Michael
    Sutherland, Margaret
    Villar, Joaquin
    Notario, Vicente
    Colberg-Poley, Anamaris
    Ladisch, Stephan
    CANCER RESEARCH, 2009, 69
  • [30] Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency
    Aoki, Kazuhiro
    Heaps, Adam D.
    Strauss, Kevin A.
    Tiemeyer, Michael
    CLINICAL MASS SPECTROMETRY, 2019, 14 : 106 - 114
12345