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2012 1
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Page 1
L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation.
Castejón-Vega B, Rubio A, Pérez-Pulido AJ, Quiles JL, Lane JD, Fernández-Domínguez B, Cachón-González MB, Martín-Ruiz C, Sanz A, Cox TM, Alcocer-Gómez E, Cordero MD. Castejón-Vega B, et al. Cells. 2021 Nov 11;10(11):3122. doi: 10.3390/cells10113122. Cells. 2021. PMID: 34831346 Free PMC article.
The lysosomal disease caused by mutant VPS33A.
Pavlova EV, Shatunov A, Wartosch L, Moskvina AI, Nikolaeva LE, Bright NA, Tylee KL, Church HJ, Ballabio A, Luzio JP, Cox TM. Pavlova EV, et al. Hum Mol Genet. 2019 Aug 1;28(15):2514-2530. doi: 10.1093/hmg/ddz077. Hum Mol Genet. 2019. PMID: 31070736 Free PMC article.
Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.
Biegstraaten M, Cox TM, Belmatoug N, Berger MG, Collin-Histed T, Vom Dahl S, Di Rocco M, Fraga C, Giona F, Giraldo P, Hasanhodzic M, Hughes DA, Iversen PO, Kiewiet AI, Lukina E, Machaczka M, Marinakis T, Mengel E, Pastores GM, Plöckinger U, Rosenbaum H, Serratrice C, Symeonidis A, Szer J, Timmerman J, Tylki-Szymańska A, Weisz Hubshman M, Zafeiriou DI, Zimran A, Hollak CEM. Biegstraaten M, et al. Blood Cells Mol Dis. 2018 Feb;68:203-208. doi: 10.1016/j.bcmd.2016.10.008. Epub 2016 Oct 24. Blood Cells Mol Dis. 2018. PMID: 28274788 Free article.
Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.
Cox TM, Drelichman G, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom B, Goker-Alpan O, Watman N, El-Beshlawy A, Kishnani PS, Pedroso ML, Gaemers SJM, Tayag R, Peterschmitt MJ. Cox TM, et al. Blood. 2017 Apr 27;129(17):2375-2383. doi: 10.1182/blood-2016-12-758409. Epub 2017 Feb 6. Blood. 2017. PMID: 28167660 Free PMC article. Clinical Trial.
Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases.
Marques AR, Mirzaian M, Akiyama H, Wisse P, Ferraz MJ, Gaspar P, Ghauharali-van der Vlugt K, Meijer R, Giraldo P, Alfonso P, Irún P, Dahl M, Karlsson S, Pavlova EV, Cox TM, Scheij S, Verhoek M, Ottenhoff R, van Roomen CP, Pannu NS, van Eijk M, Dekker N, Boot RG, Overkleeft HS, Blommaart E, Hirabayashi Y, Aerts JM. Marques AR, et al. J Lipid Res. 2016 Mar;57(3):451-63. doi: 10.1194/jlr.M064923. Epub 2016 Jan 2. J Lipid Res. 2016. PMID: 26724485 Free PMC article.
19 results