17. Naturally occurring mutations in GM2 gangliosidosis: A compendium-Reference-Cited by-同舟云学术

17. Naturally occurring mutations in GM2 gangliosidosis: A compendium

Published:2001 Issue: Volume: Page:199-224
ISSN:0065-2660
Container-title:Tay-Sachs Disease
language:
Short-container-title:

Author:

Triggs-Raine Barbara,Mahuran Don J.,Gravel Roy A.

Publisher

Elsevier

Reference144 articles.

1. A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease;Ainsworth;Am. J. Hum. Genet.,1992

2. Novel Tay-Sachs disease mutations from China;Akalin;Hum. Mutat.,1992

3. A mutation common in non-Jewish Tay-Sachs disease: Frequency and RNA studies;Akerman;Hum. Mutat.,1992

4. A “G” to “A” mutation at position - 1 of a 5′ splice site in a late infantile form of Tay-Sachs disease;Akli;J. Biol. Chem.,1990

5. Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments;Akli;Genomics,1991

Cited by 28 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Recent advances in glycoside hydrolase family 20 and 84 inhibitors: Structures, inhibitory mechanisms and biological activities;Bioorganic Chemistry;2024-01

2. Gangliosides and Cell Surface Ganglioside Metabolic Enzymes in the Nervous System;Advances in Neurobiology;2022-10-19

3. Analysis of Brain Lipids in the Early-Onset Tay–Sachs Disease Mouse Model With the Combined Deficiency of β-Hexosaminidase A and Neuraminidase 3;Frontiers in Molecular Biosciences;2022-08-08

4. sp²-Iminosugars targeting human lysosomal β-hexosaminidase as pharmacological chaperone candidates for late-onset Tay-Sachs disease;Journal of Enzyme Inhibition and Medicinal Chemistry;2022-05-16

5. A review of milk gangliosides: Occurrence, biosynthesis, identification, and nutritional and functional significance;International Journal of Dairy Technology;2021-10-07