Loss of Flot2 expression in deep cerebellar nuclei neurons of mice with Niemann-Pick disease type C

Authors: Chen, Tsu-I ^{a, 1}, Hsu, Pei-Chun ^{b, 1}, Lee, Ni-Chung ^{a, b}, Liu, Yu-Han ^a, Wang, Hao-Chun ^b, Lu, Yen-Hsu ^a, Chien, Yin-Hsiu ^{a, b}, Hwu, Wuh-Liang ^{a, b, c, ∗}

Source: In Heliyon July 2023 9(7)

Lipid-Lowering Drug Gemfibrozil Protects Mice from Tay-Sachs Disease via Peroxisome Proliferator-Activated Receptor α

Authors: Sumita Raha, Debashis Dutta, Ramesh K. Paidi, Kalipada Pahan

Source: Cells, Vol 12, Iss 24, p 2791 (2023)

Subject Terms: Tay-Sachs disease, glial activation, GM2 ganglioside, gemfibrozil, peroxisome proliferator-activated receptor α, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/12/24/2791; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/08e80082dcb04bb2bea1d1d426414cae

Report of two Cases of Tay–Sachs in Children of a Single Family

Authors: N Sharifi, R Rahimani, F Mardani, F Adelizadeh

Source: Armaghane Danesh Bimonthly Journal, Vol 24, Iss 3, Pp 427-433 (2019)

Subject Terms: Tay–Sachs disease, Hexosaminidase Deficiency, GM2 ganglioside, Red Cherry Spots, Medicine (General), R5-920

File Description: electronic resource

Relation: http://armaghanj.yums.ac.ir/article-1-2251-en.html; https://doaj.org/toc/1728-6514

Access URL: https://doaj.org/article/99a423ed90a3467b82bfdde256093fd3

Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G>T and c.164C>T mutations in the GM2A gene

Authors: Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R. Morales, Grant A. Mitchell, Alexey V. Pshezhetsky

Source: Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 24-29 (2017)

Subject Terms: Gangliosidosis, GM2 ganglioside, GM2 ganglioside activator protein, Lysosomal storage disease, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426916301422; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/f8fbb584749e494c9183c62016b2c939

Neuronal Lysosomal Enzyme Replacement Using Fragment C of Tetanus Toxin

Authors: Dobrens, Kostantin, Joseph, Ansamma, Rattazzi, Mario C.

Source: Proceedings of the National Academy of Sciences of the United States of America, 1992 Mar . 89(6), 2297-2301.

Access URL: https://www.jstor.org/stable/2358691

Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain

Authors: Paul D. Snyder, Jr., William Krivit, Charles C. Sweeley

Source: Journal of Lipid Research, Vol 13, Iss 1, Pp 128-136 (1972)

Subject Terms: globoside, GM2 ganglioside, asialo GM2, glycosphingolipid storage disease, total hexosaminidase deficiency, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520394463; https://doaj.org/toc/0022-2275

Access URL: https://doaj.org/article/d8946c397e2c42978c0a06997eb6ac5d

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