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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.
[No title available]
[No authors listed] [No authors listed] PMID: 34005006
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.
Glycosphingolipid metabolism and its role in ageing and Parkinson's disease.
Wallom KL, Fernández-Suárez ME, Priestman DA, Te Vruchte D, Huebecker M, Hallett PJ, Isacson O, Platt FM. Wallom KL, et al. Among authors: huebecker m. Glycoconj J. 2022 Feb;39(1):39-53. doi: 10.1007/s10719-021-10023-x. Epub 2021 Nov 10. Glycoconj J. 2022. PMID: 34757540 Free PMC article. 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.
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.
17 results