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Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.
Nicoli ER, Huebecker M, Han ST, Garcia K, Munasinghe J, Lizak M, Latour Y, Yoon R, Glase B, Tyrlik M, Peiravi M, Springer D, Baker EH, Priestman D, Sidhu R, Kell P, Jiang X, Kolstad J, Kuhn AL, Shazeeb MS, Acosta MT, Proia RL, Platt FM, Tifft CJ. Nicoli ER, et al. Among authors: springer d. Mol Genet Metab. 2023 Feb;138(2):107508. doi: 10.1016/j.ymgme.2023.107508. Epub 2023 Jan 13. Mol Genet Metab. 2023. PMID: 36709532 Free PMC article.
A conserved role for frizzled in sleep architecture.
Gessner NR, Peiravi M, Zhang F, Yimam S, Springer D, Harbison ST. Gessner NR, et al. Among authors: springer d. Sleep Adv. 2023 Nov 28;4(1):zpad045. doi: 10.1093/sleepadvances/zpad045. eCollection 2023. Sleep Adv. 2023. PMID: 38033424 Free PMC article.
Conditional ablation and conditional rescue models for Casq2 elucidate the role of development and of cell-type specific expression of Casq2 in the CPVT2 phenotype.
Flores DJ, Duong T, Brandenberger LO, Mitra A, Shirali A, Johnson JC, Springer D, Noguchi A, Yu ZX, Ebert SN, Ludwig A, Knollmann BC, Levin MD, Pfeifer K. Flores DJ, et al. Among authors: springer d. Hum Mol Genet. 2018 May 1;27(9):1533-1544. doi: 10.1093/hmg/ddy060. Hum Mol Genet. 2018. PMID: 29452352 Free PMC article.
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model.
Levin MD, Bianconi S, Smith A, Cawley NX, Do AD, Hammond D, Grafstein JF, Thurm A, Miller J, Perreault J, Noguchi A, Springer D, Kozel BA, Spurney CF, Wassif CA, Yu ZX, Schulze A, Porter FD, Hannah-Shmouni F. Levin MD, et al. Among authors: springer d. Genet Med. 2021 Oct;23(10):1864-1872. doi: 10.1038/s41436-021-01224-8. Epub 2021 May 28. Genet Med. 2021. PMID: 34050321 Free PMC article.
A murine model of peripheral irradiation-induced fatigue.
Renner M, Feng R, Springer D, Chen MK, Ntamack A, Espina A, Saligan LN. Renner M, et al. Among authors: springer d. Behav Brain Res. 2016 Jul 1;307:218-26. doi: 10.1016/j.bbr.2016.03.035. Epub 2016 Mar 21. Behav Brain Res. 2016. PMID: 27012391 Free PMC article.
316 results