GM2 gangliosidosis insights: Tay-Sachs models via CRISPR-Cas9

被引：0
|
作者：
Suarez, Diego [1 ]
Espejo, Angela J. [1 ]
Almeciga-Diaz, Carlos Javier [1 ]
机构：
[1] Pontificia Univ Javeriana, Inst Errores Innatos Metab, Bogota, Colombia
来源：
MOLECULAR GENETICS AND METABOLISM | 2024年 / 141卷 / 02期
关键词：
D O I：
10.1016/j.ymgme.2023.108052
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
313
引用
收藏
页数：2
相关论文
共 50 条
  • [21] Sialidase-mediated depletion of GM2 ganglioside in Tay-Sachs neuroglia cells
    Igdoura, SA
    Mertineit, C
    Trasler, JM
    Gravel, RA
    HUMAN MOLECULAR GENETICS, 1999, 8 (06) : 1111 - 1116
  • [22] IMPAIRED SULFATED GLYCOSAMINOGLYCAN METABOLISM IN A PATIENT WITH GM-2 GANGLIOSIDOSIS (TAY-SACHS DISEASE)
    TOMA, L
    PINTO, W
    RODRIGUES, VC
    DIETRICH, CP
    NADER, HB
    JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (05) : 721 - 731
  • [23] The role of complement system in GM2 gangliosidoses: Implications for Tay-Sachs and Sandhoff disease
    Eichler, Florian S.
    Kyu, Jun Byung
    MOLECULAR GENETICS AND METABOLISM, 2016, 117 (02) : S42 - S42
  • [24] Abnormally accumulated GM2 ganglioside contributes to skeletal deformity in Tay-Sachs mice
    Demir, Secil Akyildiz
    Seyrantepe, Volkan
    JOURNAL OF MOLECULAR MEDICINE-JMM, 2024, 102 (12): : 1517 - 1526
  • [25] JUVENILE GM2-GANGLIOSIDOSIS . CLINICAL VARIANT OF TAY-SACHS DISEASE OR A NEW DISEASE
    SUZUKI, K
    SUZUKI, K
    RAPIN, I
    SUZUKI, Y
    ISHII, N
    NEUROLOGY, 1970, 20 (02) : 190 - &
  • [26] MEMBRANOUS CYTOPLASMIC BODIES FROM TAY-SACHS DISEASE GM1-GANGLIOSIDOSIS (GENERALIZED GANGLIOSIDOSIS
    SUZUKI, K
    CHEN, GC
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1968, 27 (01): : 142 - &
  • [27] GM2 GANGLIOSIDE IN FETAL TAY-SACHS DISEASE BRAIN CULTURES - MODEL SYSTEM FOR DISEASE
    HOFFMAN, LM
    AMSTERDAM, D
    SCHNECK, L
    BRAIN RESEARCH, 1976, 111 (01) : 109 - 117
  • [28] Functional performance in late-onset GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases), longitudinal data over 3 consecutive years
    Puga, Ana C.
    Hamed, Alaa
    Kissell, Julie
    Minini, Pascal
    Pabla, Anureet K.
    Kahn, Susan
    Eichler, Florian
    Stephen, Christopher D.
    Tifft, Cynthia J.
    Toro, Camilo
    Johnston, Jean
    Lau, Heather A.
    Haxton, Elizabeth
    Gray-Edwards, Heather
    Fischer, Tanya
    MOLECULAR GENETICS AND METABOLISM, 2018, 123 (02) : S122 - S122
  • [29] PERIPHERAL INTRAAXONAL STORAGE IN TAY-SACHS DISEASE (GM2-GANGLIOSIDOSIS TYPE-1
    SCHMITT, HP
    BERLET, H
    VOLK, B
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 1979, 44 (01) : 115 - 124
  • [30] GM2-GANGLIOSIDOSIS - HEXOSAMINIDASE MUTATIONS NOT OF THE TAY-SACHS TYPE PRODUCE UNUSUAL CLINICAL VARIANTS
    KOLODNY, EH
    RAGHAVAN, SS
    TRENDS IN NEUROSCIENCES, 1983, 6 (01) : 16 - 20
12345