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gangliosidosis相关文献:
Genetics and Therapies for GM2 Gangliosidosis.
Cachon-Gonzalez MB, Zaccariotto E, Cox TM.
Curr Gene Ther. 2018;18(2):68-89. doi: 10.2174/1566523218666180404162622.
PMID:29618308
Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis.
Boland S, Swarup S, Ambaw YA, Malia PC, Richards RC, Fischer AW, Singh S, Aggarwal G, Spina S, Nana AL, Grinberg LT, Seeley WW, Surma MA, Klose C, Paulo JA, Nguyen AD, Harper JW, Walther TC, Farese RV Jr.
Nat Commun. 2022 Oct 7;13(1):5924. doi: 10.1038/s41467-022-33500-9.
PMID:36207292
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Ganne B, Dauriat B, Richard L, Lamari F, Ghorab K, Magy L, Benkirane M, Perani A, Marquet V, Calvas P, Yardin C, Bourthoumieu S.
Neurol Sci. 2022 Nov;43(11):6517-6527. doi: 10.1007/s10072-022-06270-x. Epub 2022 Aug 4.
PMID:35925454
Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis.
Stern S, Crisamore K, Li RJ, Pacanowski M, Schuck R.
Clin Transl Sci. 2025 Mar;18(3):e70176. doi: 10.1111/cts.70176.
PMID:40016926
Senescence-associated beta-galactosidase is lysosomal beta-galactosidase.
Lee BY, Han JA, Im JS, Morrone A, Johung K, Goodwin EC, Kleijer WJ, DiMaio D, Hwang ES.
Aging Cell. 2006 Apr;5(2):187-95. doi: 10.1111/j.1474-9726.2006.00199.x.
PMID:16626397
Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review.
Mansouri V, Tavasoli AR, Khodarahmi M, Dakkali MS, Daneshfar S, Ashrafi MR, Heidari M, Hosseinpour S, Sharifianjazi F, Bemanalizadeh M.
Eur J Neurol. 2023 Sep;30(9):2919-2945. doi: 10.1111/ene.15871. Epub 2023 Jun 8.
PMID:37209042
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.
Nat Med. 2025 Sep;31(9):2927-2935. doi: 10.1038/s41591-025-03822-4. Epub 2025 Aug 15.
PMID:40817303
[GM2 gangliosidosis].
Tsuji S.
Ryoikibetsu Shokogun Shirizu. 1999;(27 Pt 2):177-9.
PMID:10434623
[GM2 gangliosidosis].
Tanaka A.
Ryoikibetsu Shokogun Shirizu. 2001;(33):758-60.
PMID:11462672
Pharmacological Chaperones for beta-Galactosidase Related to G(M1) -Gangliosidosis and Morquio B: Recent Advances.
Stütz AE, Thonhofer M, Weber P, Wolfsgruber A, Wrodnigg TM.
Chem Rec. 2021 Nov;21(11):2980-2989. doi: 10.1002/tcr.202100269. Epub 2021 Nov 23.
PMID:34816592
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