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Page 1
Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
Nitschke S, Sullivan MA, Mitra S, Marchioni CR, Lee JPY, Smith BH, Ahonen S, Wu J, Chown EE, Wang P, Petković S, Zhao X, DiGiovanni LF, Perri AM, Israelian L, Grossman TR, Kordasiewicz H, Vilaplana F, Iwai K, Nitschke F, Minassian BA. Nitschke S, et al. Among authors: chown ee. Brain. 2022 Jul 29;145(7):2361-2377. doi: 10.1093/brain/awac017. Brain. 2022. PMID: 35084461 Free PMC article.
GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.
Chown EE, Wang P, Zhao X, Crowder JJ, Strober JW, Sullivan MA, Xue Y, Bennett CS, Perri AM, Evers BM, Roach PJ, Depaoli-Roach AA, Akman HO, Pederson BA, Minassian BA. Chown EE, et al. Ann Clin Transl Neurol. 2020 Nov;7(11):2186-2198. doi: 10.1002/acn3.51211. Epub 2020 Oct 9. Ann Clin Transl Neurol. 2020. PMID: 33034425 Free PMC article.
Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy.
Mitra S, Chen B, Wang P, Chown EE, Dear M, Guisso DR, Mariam U, Wu J, Gumusgoz E, Minassian BA. Mitra S, et al. Among authors: chown ee. Dis Model Mech. 2023 Jan 1;16(1):dmm049802. doi: 10.1242/dmm.049802. Epub 2023 Jan 6. Dis Model Mech. 2023. PMID: 36511140 Free PMC article.
Raised IgG antiglobulin factors in Still's disease.
Torrigiani G, Ansell BM, Chown EE, Roitt IM. Torrigiani G, et al. Among authors: chown ee. Ann Rheum Dis. 1969 Jul;28(4):424-7. doi: 10.1136/ard.28.4.424. Ann Rheum Dis. 1969. PMID: 5306142 Free PMC article. No abstract available.