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Year Number of Results
2015 1
2017 3
2018 4
2019 1
2020 4
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Page 1
Fetal gene therapy for neurodegenerative disease of infants.
Massaro G, Mattar CNZ, Wong AMS, Sirka E, Buckley SMK, Herbert BR, Karlsson S, Perocheau DP, Burke D, Heales S, Richard-Londt A, Brandner S, Huebecker M, Priestman DA, Platt FM, Mills K, Biswas A, Cooper JD, Chan JKY, Cheng SH, Waddington SN, Rahim AA. Massaro G, et al. Among authors: huebecker m. Nat Med. 2018 Sep;24(9):1317-1323. doi: 10.1038/s41591-018-0106-7. Epub 2018 Jul 16. Nat Med. 2018. PMID: 30013199 Free PMC article.
AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease.
Hughes MP, Smith DA, Morris L, Fletcher C, Colaco A, Huebecker M, Tordo J, Palomar N, Massaro G, Henckaerts E, Waddington SN, Platt FM, Rahim AA. Hughes MP, et al. Among authors: huebecker m. Hum Mol Genet. 2018 Sep 1;27(17):3079-3098. doi: 10.1093/hmg/ddy212. Hum Mol Genet. 2018. PMID: 29878115 Free PMC article.
Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson's disease.
Huebecker M, Moloney EB, van der Spoel AC, Priestman DA, Isacson O, Hallett PJ, Platt FM. Huebecker M, et al. Mol Neurodegener. 2019 Nov 8;14(1):40. doi: 10.1186/s13024-019-0339-z. Mol Neurodegener. 2019. PMID: 31703585 Free PMC article.
Glycosphingolipid levels and glucocerebrosidase activity are altered in normal aging of the mouse brain.
Hallett PJ, Huebecker M, Brekk OR, Moloney EB, Rocha EM, Priestman DA, Platt FM, Isacson O. Hallett PJ, et al. Among authors: huebecker m. Neurobiol Aging. 2018 Jul;67:189-200. doi: 10.1016/j.neurobiolaging.2018.02.028. Epub 2018 Mar 29. Neurobiol Aging. 2018. PMID: 29735433 Free PMC article.
Sphingolipids controlling ciliary and microvillar function.
Kaiser F, Huebecker M, Wachten D. Kaiser F, et al. Among authors: huebecker m. FEBS Lett. 2020 May 16. doi: 10.1002/1873-3468.13816. Online ahead of print. FEBS Lett. 2020. PMID: 32415987 Review.
Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis.
Somogyi A, Petcherski A, Beckert B, Huebecker M, Priestman DA, Banning A, Cotman SL, Platt FM, Ruonala MO, Tikkanen R. Somogyi A, et al. Among authors: huebecker m. Int J Mol Sci. 2018 Feb 22;19(2):625. doi: 10.3390/ijms19020625. Int J Mol Sci. 2018. PMID: 29470438 Free PMC article.
N-Butyl-l-deoxynojirimycin (l-NBDNJ): Synthesis of an Allosteric Enhancer of α-Glucosidase Activity for the Treatment of Pompe Disease.
D'Alonzo D, De Fenza M, Porto C, Iacono R, Huebecker M, Cobucci-Ponzano B, Priestman DA, Platt F, Parenti G, Moracci M, Palumbo G, Guaragna A. D'Alonzo D, et al. Among authors: huebecker m. J Med Chem. 2017 Dec 14;60(23):9462-9469. doi: 10.1021/acs.jmedchem.7b00646. Epub 2017 Nov 22. J Med Chem. 2017. PMID: 29112434
Inhibition of β-Glucocerebrosidase Activity Preserves Motor Unit Integrity in a Mouse Model of Amyotrophic Lateral Sclerosis.
Henriques A, Huebecker M, Blasco H, Keime C, Andres CR, Corcia P, Priestman DA, Platt FM, Spedding M, Loeffler JP. Henriques A, et al. Among authors: huebecker m. Sci Rep. 2017 Jul 12;7(1):5235. doi: 10.1038/s41598-017-05313-0. Sci Rep. 2017. PMID: 28701774 Free PMC article.
Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C.
Nicoli ER, Huebecker M, Smith D, Morris L, Platt FM. Nicoli ER, et al. Among authors: huebecker m. Wellcome Open Res. 2017 Aug 31;2:76. doi: 10.12688/wellcomeopenres.12431.2. eCollection 2017. Wellcome Open Res. 2017. PMID: 29062912 Free PMC article.
Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1.
Rodriguez-Gil JL, Watkins-Chow DE, Baxter LL, Elliot G, Harper UL, Wincovitch SM, Wedel JC, Incao AA, Huebecker M, Boehm FJ, Garver WS, Porter FD, Broman KW, Platt FM, Pavan WJ. Rodriguez-Gil JL, et al. Among authors: huebecker m. Dis Model Mech. 2020 Mar 13;13(3):dmm042614. doi: 10.1242/dmm.042614. Dis Model Mech. 2020. PMID: 31996359 Free PMC article.
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