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11 in total

Review 1. Invertebrate models of lysosomal storage disease: what have we learned so far?

Authors: Samantha Hindle; Sarita Hebbar; Sean T Sweeney
Journal: Invert Neurosci Date: 2011-10-25

2. Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South African heritage.

Authors: Raelia Lew; Leslie Burnett; Anné Proos
Journal: J Community Genet Date: 2011-07-15

3. sp²-Iminosugars targeting human lysosomal β-hexosaminidase as pharmacological chaperone candidates for late-onset Tay-Sachs disease.

Authors: Manuel González-Cuesta; Irene Herrera-González; M Isabel García-Moreno; Roger A Ashmus; David J Vocadlo; José M García Fernández; Eiji Nanba; Katsumi Higaki; Carmen Ortiz Mellet
Journal: J Enzyme Inhib Med Chem Date: 2022-12 Impact factor: 5.756

4. Gangliosides and Cell Surface Ganglioside Metabolic Enzymes in the Nervous System.

Authors: Massimo Aureli; Laura Mauri; Emma Veronica Carsana; Dorina Dobi; Silvia Breviario; Giulia Lunghi; Sandro Sonnino
Journal: Adv Neurobiol Date: 2023

Review 5. The glycosphingolipid hydrolases in the central nervous system.

Authors: Massimo Aureli; Maura Samarani; Nicoletta Loberto; Rosaria Bassi; Valentina Murdica; Simona Prioni; Alessandro Prinetti; Sandro Sonnino
Journal: Mol Neurobiol Date: 2013-11-27 Impact factor: 5.590

6. Elevation of Global O-GlcNAc in rodents using a selective O-GlcNAcase inhibitor does not cause insulin resistance or perturb glucohomeostasis.

Authors: Matthew S Macauley; Xiaoyang Shan; Scott A Yuzwa; Tracey M Gloster; David J Vocadlo
Journal: Chem Biol Date: 2010-09-24

7. Linear-after-the-exponential (LATE)-PCR: an advanced method of asymmetric PCR and its uses in quantitative real-time analysis.

Authors: J Aquiles Sanchez; Kenneth E Pierce; John E Rice; Lawrence J Wangh
Journal: Proc Natl Acad Sci U S A Date: 2004-02-09 Impact factor: 11.205

Review 8. Genetics and Therapies for GM2 Gangliosidosis.

Authors: Maria Begona Cachon-Gonzalez; Eva Zaccariotto; Timothy Martin Cox
Journal: Curr Gene Ther Date: 2018 Impact factor: 4.391

9. Neuraminidase-1 contributes significantly to the degradation of neuronal B-series gangliosides but not to the bypass of the catabolic block in Tay-Sachs mouse models.

Authors: Z K Timur; S Akyildiz Demir; C Marsching; R Sandhoff; V Seyrantepe
Journal: Mol Genet Metab Rep Date: 2015-08-15

10. Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.

Authors: Devin Dersh; Yuichiro Iwamoto; Yair Argon
Journal: Mol Biol Cell Date: 2016-09-28 Impact factor: 4.138