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Page 1
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Silva DB, Trinidad M, Ljungdahl A, Revalde JL, Berguig GY, Wallace W, Patrick CS, Bomba L, Arkin M, Dong S, Estrada K, Hutchinson K, LeBowitz JH, Schlessinger A, Johannesen KM, Møller RS, Giacomini KM, Froelich S, Sanders SJ, Wuster A. Silva DB, et al. Among authors: lebowitz jh. Am J Hum Genet. 2024 Jun 6;111(6):1222-1238. doi: 10.1016/j.ajhg.2024.04.021. Epub 2024 May 22. Am J Hum Genet. 2024. PMID: 38781976 Free PMC article.
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: lebowitz jh. 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.
Identifying therapeutic drug targets using bidirectional effect genes.
Estrada K, Froelich S, Wuster A, Bauer CR, Sterling T, Clark WT, Ru Y, Trinidad M, Nguyen HP, Luu AR, Wendt DJ, Yogalingam G, Yu GK, LeBowitz JH, Cardon LR. Estrada K, et al. Among authors: lebowitz jh. Nat Commun. 2021 Apr 13;12(1):2224. doi: 10.1038/s41467-021-21843-8. Nat Commun. 2021. PMID: 33850126 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: lebowitz jh. 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.
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: lebowitz jh. 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.
Translational studies of intravenous and intracerebroventricular routes of administration for CNS cellular biodistribution for BMN 250, an enzyme replacement therapy for the treatment of Sanfilippo type B.
Grover A, Crippen-Harmon D, Nave L, Vincelette J, Wait JCM, Melton AC, Lawrence R, Brown JR, Webster KA, Yip BK, Baridon B, Vitelli C, Rigney S, Christianson TM, Tiger PMN, Lo MJ, Holtzinger J, Shaywitz AJ, Crawford BE, Fitzpatrick PA, LeBowitz JH, Bullens S, Aoyagi-Scharber M, Bunting S, O'Neill CA, Pinkstaff J, Bagri A. Grover A, et al. Among authors: lebowitz jh. Drug Deliv Transl Res. 2020 Apr;10(2):425-439. doi: 10.1007/s13346-019-00683-6. Drug Deliv Transl Res. 2020. PMID: 31942701 Free PMC article.
Characterization of glycan substrates accumulating in GM1 Gangliosidosis.
Lawrence R, Van Vleet JL, Mangini L, Harris A, Martin N, Clark W, Chandriani S, LeBowitz JH, Giugliani R, d'Azzo A, Yogalingam G, Crawford BE. Lawrence R, et al. Among authors: lebowitz jh. Mol Genet Metab Rep. 2019 Nov 3;21:100524. doi: 10.1016/j.ymgmr.2019.100524. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31720227 Free PMC article.
55 results