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Page 1
Substrate reduction therapy for Krabbe disease and metachromatic leukodystrophy using a novel ceramide galactosyltransferase inhibitor.
Babcock MC, Mikulka CR, Wang B, Chandriani S, Chandra S, Xu Y, Webster K, Feng Y, Nelvagal HR, Giaramita A, Yip BK, Lo M, Jiang X, Chao Q, Woloszynek JC, Shen Y, Bhagwat S, Sands MS, Crawford BE. Babcock MC, et al. Among authors: giaramita a. Sci Rep. 2021 Jul 14;11(1):14486. doi: 10.1038/s41598-021-93601-1. Sci Rep. 2021. PMID: 34262084 Free PMC article.
Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target.
Li Y, Xu Y, Benitez BA, Nagree MS, Dearborn JT, Jiang X, Guzman MA, Woloszynek JC, Giaramita A, Yip BK, Elsbernd J, Babcock MC, Lo M, Fowler SC, Wozniak DF, Vogler CA, Medin JA, Crawford BE, Sands MS. Li Y, et al. Among authors: giaramita a. Proc Natl Acad Sci U S A. 2019 Oct 1;116(40):20097-20103. doi: 10.1073/pnas.1912108116. Epub 2019 Sep 16. Proc Natl Acad Sci U S A. 2019. PMID: 31527255 Free PMC article.
Intracerebroventricular enzyme replacement therapy with β-galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice.
Chen JC, Luu AR, Wise N, Angelis R, Agrawal V, Mangini L, Vincelette J, Handyside B, Sterling H, Lo MJ, Wong H, Galicia N, Pacheco G, Van Vleet J, Giaramita A, Fong S, Roy SM, Hague C, Lawrence R, Bullens S, Christianson TM, d'Azzo A, Crawford BE, Bunting S, LeBowitz JH, Yogalingam G. Chen JC, et al. Among authors: giaramita a. J Biol Chem. 2020 Sep 25;295(39):13532-13555. doi: 10.1074/jbc.RA119.009811. Epub 2019 Sep 3. J Biol Chem. 2020. PMID: 31481471 Free PMC article.
Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiency.
Luu AR, Wong C, Agrawal V, Wise N, Handyside B, Lo MJ, Pacheco G, Felix JB, Giaramita A, d'Azzo A, Vincelette J, Bullens S, Bunting S, Christianson TM, Hague CM, LeBowitz JH, Yogalingam G. Luu AR, et al. Among authors: giaramita a. J Biol Chem. 2020 Sep 25;295(39):13556-13569. doi: 10.1074/jbc.RA119.010794. Epub 2020 Jul 28. J Biol Chem. 2020. PMID: 32727849 Free PMC article.
Correction: Intermittent enzyme replacement therapy prevents Neu1 deficiency.
Luu AR, Wong C, Agrawal V, Wise N, Handyside B, Lo MJ, Pacheco G, Felix JB, Giaramita A, d'Azzo A, Vincelette J, Bullens S, Bunting S, Christianson TM, Hague CM, LeBowitz JH, Yogalingam G. Luu AR, et al. Among authors: giaramita a. J Biol Chem. 2020 Nov 13;295(46):15794. doi: 10.1074/jbc.AAC120.016409. J Biol Chem. 2020. PMID: 33188082 Free PMC article. No abstract available.
Intracerebroventricular dosing of N-sulfoglucosamine sulfohydrolase in mucopolysaccharidosis IIIA mice reduces markers of brain lysosomal dysfunction.
Magat J, Jones S, Baridon B, Agrawal V, Wong H, Giaramita A, Mangini L, Handyside B, Vitelli C, Parker M, Yeung N, Zhou Y, Pungor E, Slabodkin I, Gorostiza O, Aguilera A, Lo MJ, Alcozie S, Christianson TM, Tiger PMN, Vincelette J, Fong S, Gil G, Hague C, Lawrence R, Wendt DJ, Lebowitz JH, Bunting S, Bullens S, Crawford BE, Roy SM, Woloszynek JC. Magat J, et al. Among authors: giaramita a. J Biol Chem. 2022 Dec;298(12):102625. doi: 10.1016/j.jbc.2022.102625. Epub 2022 Oct 26. J Biol Chem. 2022. PMID: 36306823 Free PMC article.