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2021 9
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AAV gene therapy for Tay-Sachs disease.
Flotte TR, Cataltepe O, Puri A, Batista AR, Moser R, McKenna-Yasek D, Douthwright C, Gernoux G, Blackwood M, Mueller C, Tai PWL, Jiang X, Bateman S, Spanakis SG, Parzych J, Keeler AM, Abayazeed A, Rohatgi S, Gibson L, Finberg R, Barton BA, Vardar Z, Shazeeb MS, Gounis M, Tifft CJ, Eichler FS, Brown RH Jr, Martin DR, Gray-Edwards HL, Sena-Esteves M. Flotte TR, et al. Nat Med. 2022 Feb;28(2):251-259. doi: 10.1038/s41591-021-01664-4. Epub 2022 Feb 10. Nat Med. 2022. PMID: 35145305 Free PMC article.
Tay-Sachs disease (TSD) is an inherited neurological disorder caused by deficiency of hexosaminidase A (HexA). Here, we describe an adeno-associated virus (AAV) gene therapy expanded-access trial in two patients with infantile TSD (IND 18225) with safety as t …
Tay-Sachs disease (TSD) is an inherited neurological disorder caused by deficiency of hexosaminidase A (HexA). Here, we …
IgA vasculitis nephritis.
Nüsken E, Weber LT. Nüsken E, et al. Curr Opin Pediatr. 2022 Apr 1;34(2):209-216. doi: 10.1097/MOP.0000000000001120. Curr Opin Pediatr. 2022. PMID: 35125382 Review.
Currently, kidney injury molecule-1, monocyte chemotactic protein-1, N-acetyl-beta-glucosaminidase, and angiotensinogen are the most promising urinary biomarkers for early diagnosis of renal involvement in IgA vasculitis. ...
Currently, kidney injury molecule-1, monocyte chemotactic protein-1, N-acetyl-beta-glucosaminidase, and angioten …
TMEM106B amyloid filaments in the Biondi bodies of ependymal cells.
Ghetti B, Schweighauser M, Jacobsen MH, Gray D, Bacioglu M, Murzin AG, Glazier BS, Katsinelos T, Vidal R, Newell KL, Gao S, Garringer HJ, Spillantini MG, Scheres SHW, Goedert M. Ghetti B, et al. Acta Neuropathol. 2024 Nov 6;148(1):60. doi: 10.1007/s00401-024-02807-w. Acta Neuropathol. 2024. PMID: 39503754 Free PMC article.
Many Biondi bodies were also labelled for TMEM106B and the lysosomal markers Hexosaminidase A and Cathepsin D. By transmission immuno-electron microscopy, Biondi bodies of choroid plexuses were decorated by TMEM239 and were associated with structures that resembled …
Many Biondi bodies were also labelled for TMEM106B and the lysosomal markers Hexosaminidase A and Cathepsin D. By transmission …
Inhibiting autophagy before it starts.
Lin Y, Yu B, Fang P, Wang J. Lin Y, et al. Autophagy. 2024 Apr;20(4):923-924. doi: 10.1080/15548627.2023.2197364. Epub 2023 Apr 10. Autophagy. 2024. PMID: 37036151 Free PMC article.
This drug can improve the therapeutic effect of Temozolomide on glioblastoma treatment, further confirming the value of inhibiting autophagy in the treatment of cancer.Abbreviation: VPS34: vacuolar protein sorting 34; ULK1: unc-51 like autophagy activating kinase 1; TFEB: transcr …
This drug can improve the therapeutic effect of Temozolomide on glioblastoma treatment, further confirming the value of inhibiting autophagy …
CNS-targeted base editing of the major late-onset Tay-Sachs mutation alleviates disease in mice.
Allende ML, Kono M, Lee YT, Olmsted SM, Huso V, Bakir JY, Pratto F, Li C, Byrnes C, Tuymetova G, Zhu H, Tifft CJ, Proia RL. Allende ML, et al. J Clin Invest. 2025 Jun 17;135(16):e183434. doi: 10.1172/JCI183434. eCollection 2025 Aug 15. J Clin Invest. 2025. PMID: 40526437 Free PMC article.
Late-onset Tay-Sachs (LOTS) disease is a lysosomal storage disorder most commonly caused by a point mutation (c.805G>A) in the HEXA gene encoding the alpha subunit of the lysosomal enzyme beta-hexosaminidase A. LOTS manifests as a range of gradually …
Late-onset Tay-Sachs (LOTS) disease is a lysosomal storage disorder most commonly caused by a point mutation (c.805G>A) in the HEXA …
Plasma membrane remodeling in GM2 gangliosidoses drives synaptic dysfunction.
Nicholson AS, Priestman DA, Antrobus R, Williamson JC, Bush R, McKie SJ, Barrow HG, Smith E, Dobrenis K, Bright NA, Platt FM, Deane JE. Nicholson AS, et al. PLoS Biol. 2025 Jul 3;23(7):e3003265. doi: 10.1371/journal.pbio.3003265. eCollection 2025 Jul. PLoS Biol. 2025. PMID: 40608809 Free PMC article.
GSLs containing sialic acids, known as gangliosides, are highly abundant in the brain and diseases of ganglioside metabolism cause severe early-onset neurodegeneration. The ganglioside GM2 is processed by beta-hexosaminidase A and when non-functional GM2 accu …
GSLs containing sialic acids, known as gangliosides, are highly abundant in the brain and diseases of ganglioside metabolism cause severe ea …
Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.
Eichler F, Cataltepe OI, Daci R, Puri AS, Taghian T, Jiang X, Shazeeb MS, Kuhn A, Hader A, Celik H, Vardar Z, Lewis CJ, Artinian R, Nagy A, Vachha B, Thompson R, Gallagher T, Bateman S, Parzych J, Spanakis SG, Vaughn TA, Pier K, De Boever E, Abbott MA, D Ambrosio E, Kokoski D, Blackwood M, Drummond E, Ratai EM, Townsend EL, McLaughlin H, Tifft CJ, Keeler AM, Sena-Esteves M, Gray-Edwards HL, Flotte TR. Eichler F, et al. Nat Med. 2025 Sep;31(9):2927-2935. doi: 10.1038/s41591-025-03822-4. Epub 2025 Aug 15. Nat Med. 2025. PMID: 40817303 Free PMC article. Clinical Trial.
The dual rAAVrh8-HEXA and rAAVrh8-HEXB vector can restore central nervous system hexosaminidase (Hex) enzyme activity, decrease GM2 levels in cerebrospinal fluid and rescue phenotypic consequences of GM2 gangliosidosis, Tay-Sachs and Sandhoff diseases in animal mode …
The dual rAAVrh8-HEXA and rAAVrh8-HEXB vector can restore central nervous system hexosaminidase (Hex) enzyme activity, decreas …
Kidney tubular injury induced by valproic acid: systematic literature review.
Anguissola G, Leu D, Simonetti GD, Simonetti BG, Lava SAG, Milani GP, Bianchetti MG, Scoglio M. Anguissola G, et al. Pediatr Nephrol. 2023 Jun;38(6):1725-1731. doi: 10.1007/s00467-022-05869-8. Epub 2023 Jan 16. Pediatr Nephrol. 2023. PMID: 36645492 Free PMC article.
In the reported 285 subjects on valproic acid for 7 months or more, an isolated tubular proteinuria, mostly N-acetyl-beta-glucosaminidase, was often noted. CONCLUSIONS: Valproic acid may induce an overt kidney tubular injury, which is associated with a …
In the reported 285 subjects on valproic acid for 7 months or more, an isolated tubular proteinuria, mostly N-acetyl-beta …
Liver-Secreted Hexosaminidase A Regulates Insulin-Like Growth Factor Signaling and Glucose Transport in Skeletal Muscle.
Montgomery MK, Bayliss J, Nie S, de Nardo W, Keenan SN, Anari M, Taddese AZ, Williamson NA, Ooi GJ, Brown WA, Burton PR, Gregorevic P, Goodman CA, Watt KI, Watt MJ. Montgomery MK, et al. Diabetes. 2023 Jun 1;72(6):715-727. doi: 10.2337/db22-0590. Diabetes. 2023. PMID: 36580496
The high secretory capacity of the liver and impairments in protein secretion in NAFLD suggest that endocrine changes in the liver are likely to contribute to glycemic defects. We identify hexosaminidase A (HEXA) as an NAFLD-induced hepatokine in both mice an …
The high secretory capacity of the liver and impairments in protein secretion in NAFLD suggest that endocrine changes in the liver are likel …
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. Together they encode the heterodimeric isozyme of hexosaminidase, hexosaminidase …
Tay-Sachs disease (TSD) and Sandhoff disease are fatal neurodegenerative diseases without an effective therapy that are caused by mutations …
62 results