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2022 5
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Gene Therapy of Sphingolipid Metabolic Disorders.
Shaimardanova AA, Solovyeva VV, Issa SS, Rizvanov AA. Shaimardanova AA, et al. Int J Mol Sci. 2023 Feb 11;24(4):3627. doi: 10.3390/ijms24043627. Int J Mol Sci. 2023. PMID: 36835039 Free PMC article. Review.
This group of lysosomal storage diseases includes more than 10 genetic disorders, including GM1-gangliosidosis, Tay-Sachs disease, Sandhoff disease, the AB variant of GM2-gangliosidosis, Fabry disease, Gaucher disease, metachromatic leukodystrophy, Krabbe dis …
This group of lysosomal storage diseases includes more than 10 genetic disorders, including GM1-gangliosidosis, Tay-Sachs d …
Tay-Sachs disease models: From cellular and animal models to treatment perspectives.
Suarez DA, Leal AF, Pachajoa H, Granados-Villalobos S, Espejo-Mojica AJ, Seyrantepe V, Alméciga-Díaz CJ. Suarez DA, et al. Mol Genet Metab. 2026 Jun;148(2):109905. doi: 10.1016/j.ymgme.2026.109905. Epub 2026 Mar 18. Mol Genet Metab. 2026. PMID: 41880697 Free article. Review.
Tay-Sachs disease (TSD) is a lysosomal storage disorder caused by pathogenic variants in the HEXA gene, resulting in deficient activity of beta-hexosaminidase A (Hex-A). ...Continued refinement and integration of these models will be essential for advancing e …
Tay-Sachs disease (TSD) is a lysosomal storage disorder caused by pathogenic variants in the HEXA gene, resulting in de …
Five-year analysis of efficacy and safety of a bidirectional AAV gene therapy in Tay-Sachs sheep.
Taghian T, Gallagher J, Bertrand S, Baker WC, Lopez Mercado K, Benatti HR, Hall E, Lopez Y, McElroy A, McCarthy JT, Pulaparthi S, Fernau D, Mather S, Esteves S, Diffie E, Gross A, Lahey HG, Jiang X, Parsley E, Gately R, Prestigiacomo R, Johnson S, Taylor A, Bierfeldt L, Tuominen S, Koehler J, Gao G, Xie J, Su Q, King R, Gounis MJ, Anagnostakou V, Puri A, Batista AR, Sena-Esteves M, Martin DR, Gray-Edwards H. Taghian T, et al. J Clin Invest. 2025 Sep 30;135(23):e182942. doi: 10.1172/JCI182942. eCollection 2025 Dec 1. J Clin Invest. 2025. PMID: 41026525 Free PMC article.
Tay-Sachs disease (TSD) and Sandhoff disease are fatal neurodegenerative diseases without an effective therapy that are caused by mutations in the HEXA and HEXB genes, respectively. ...
Tay-Sachs disease (TSD) and Sandhoff disease are fatal neurodegenerative diseases without an effective therapy that are …
Activation of ABCC1 transporter ameliorates synaptic dysregulation in Tay-Sachs disease neuron.
Zhang Y, Numakawa T, Kajihara R, Lee K, Pu J, Horita C, Kido J, Matsuo M, Era T. Zhang Y, et al. Neurobiol Dis. 2025 Nov;216:107099. doi: 10.1016/j.nbd.2025.107099. Epub 2025 Sep 12. Neurobiol Dis. 2025. PMID: 40946809 Free article.
Tay-Sachs disease (TSD) is a congenital lysosomal storage disorder, caused by deficiency in the alpha-subunit of beta-hexosaminidase A, leading to GM2 ganglioside accumulation in the central nervous system. ...
Tay-Sachs disease (TSD) is a congenital lysosomal storage disorder, caused by deficiency in the alpha-subunit of beta-h …
Gene expression changes in Tay-Sachs disease begin early in fetal brain development.
Han ST, Hirt A, Nicoli ER, Kono M, Toro C, Proia RL, Tifft CJ. Han ST, et al. J Inherit Metab Dis. 2023 Jul;46(4):687-694. doi: 10.1002/jimd.12596. Epub 2023 Feb 5. J Inherit Metab Dis. 2023. PMID: 36700853 Free PMC article.
However, recent advances in gene therapy and related technologies aim to correct these underlying deficiencies, raising the possibility of disease management or even prevention for diseases that can be treated pre-symptomatically. Tay-Sachs disease (TSD) woul …
However, recent advances in gene therapy and related technologies aim to correct these underlying deficiencies, raising the possibility of d …
Modeling Tay-Sachs Disease in Astrocyte-like Cells Reveals Significant Changes in the Transcriptomic Profile.
Suárez-García DA, Espejo-Mojica AJ, Alméciga-Díaz CJ. Suárez-García DA, et al. Int J Mol Sci. 2026 Jul 22;27(14):6503. doi: 10.3390/ijms27146503. Int J Mol Sci. 2026. PMID: 42511849 Free PMC article.
Tay-Sachs disease is a rare genetic disorder characterized by the accumulation of GM2 ganglioside in neuronal lysosomes due to deficient beta-hexosaminidase A (HexA) activity. ...In summary, this model reproduces some classical cellular alterations reported i …
Tay-Sachs disease is a rare genetic disorder characterized by the accumulation of GM2 ganglioside in neuronal lysosomes …
Lithium treatment rescues dysfunctional autophagy in the cell models of Tay-Sachs disease.
Basirli H, Can M, Sengul T, Seyrantepe V. Basirli H, et al. Mol Genet Metab. 2024 Mar;141(3):108140. doi: 10.1016/j.ymgme.2024.108140. Epub 2024 Jan 11. Mol Genet Metab. 2024. PMID: 38262289
Tay-Sachs disease is a rare lysosomal storage disorder (LSD) caused by a mutation in the HexA gene coding beta-hexosaminidase A enzyme. ...Our data suggest that targeting autophagic flux with an autophagy inducer might be a rational therapeutic strategy for t …
Tay-Sachs disease is a rare lysosomal storage disorder (LSD) caused by a mutation in the HexA gene coding beta-hexosami …
Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.
Fullam S, Togher Z, Power A, Kennelly L, McHugh JC, O'Dowd S, Tubridy N, Hardiman O, Costigan D, Ryan A, Lefter S, Connolly S, Murphy SM. Fullam S, et al. Eur J Neurol. 2024 Jan;31(1):e16069. doi: 10.1111/ene.16069. Epub 2023 Sep 27. Eur J Neurol. 2024. PMID: 37754769 Free PMC article.
BACKGROUND AND PURPOSE: Tay-Sachs disease is a rare and often fatal, autosomal recessive, lysosomal storage disease. ...Typical onset is in infancy with developmental regression and early death. Late-onset Tay-Sachs disease (LOTS) is extr …
BACKGROUND AND PURPOSE: Tay-Sachs disease is a rare and often fatal, autosomal recessive, lysosomal storage disease. .. …
Late-Onset Tay-Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype.
Frezatti RSS, Gonçalves TAP, de Albuquerque Bueno MG, Dos Santos ACJ, Wilson LA, Dominik N, Hanna MG, Morrow J, Rossor AM, Reilly MM, Tomaselli PJ, Marques W Junior. Frezatti RSS, et al. J Peripher Nerv Syst. 2026 Sep;31(3):e70144. doi: 10.1111/jns.70144. J Peripher Nerv Syst. 2026. PMID: 42466981 Free PMC article.
BACKGROUND: Late-onset Tay-Sachs disease (LOTS) is a rare lysosomal disorder that contrasts with the classical infantile form by presenting with milder and heterogeneous neurological manifestations, including lower motor neuron phenotypes. ...
BACKGROUND: Late-onset Tay-Sachs disease (LOTS) is a rare lysosomal disorder that contrasts with the classical infantil …
32 results