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Bergmann glia translocation: a new disease marker for vanishing white matter identifies therapeutic effects of Guanabenz treatment
June 2018
Dooves S, Bugiani M, Wisse LE, Abbink TEM, van der Knaap MS, Heine VM.
Neuropathol Appl Neurobiol; 44(4):391-403. doi: 10.1111/nan.12411. Epub 2017 Aug 1. PMID: 28953319.
eIF2B activator prevents neurological defects caused by a chronic integrated stress response
January 9, 2019
Wong YL, LeBon L, Basso AM, Kohlhaas KL, Nikkel AL, Robb HM, Donnelly-Roberts DL, Prakash J, Swensen AM, Rubinstein ND, Krishnan S, McAllister FE, Haste NV, O'Brien JJ, Roy M, Ireland A, Frost JM, Shi L, Riedmaier S, Martin K, Dart MJ, Sidrauski C.
8:e42940. doi: 10.7554/eLife.42940. PMID: 30624206; PMCID: PMC6326728.
The small molecule ISRIB rescues the stability and activity of Vanishing White Matter Disease eIF2B mutant complexes
February 28, 2018
Wong YL, LeBon L, Edalji R, Lim HB, Sun C, Sidrauski C.
7:e32733. doi: 10.7554/eLife.32733. PMID: 29489452; PMCID: PMC5829914.
Drug Screening Identifies Sigma-1-Receptor as a Target for the Therapy of VWM Leukodystrophy
September 18, 2018
Atzmon A, Herrero M, Sharet-Eshed R, Gilad Y, Senderowitz H, Elroy-Stein O.
Front Mol Neurosci. 2018;11:336. Published 2018 Sep 18. doi:10.3389/fnmol.2018.00336
Vanishing white matter: deregulated integrated stress response as therapy target
June 28, 2021
Abbink TEM, Wisse LE, Jaku E, Thiecke MJ, Voltolini-González D, Fritsen H, Bobeldijk S, Ter Braak TJ, Polder E, Postma NL, Bugiani M, Struijs EA, Verheijen M, Straat N, van der Sluis S, Thomas AAM, Molenaar D, van der Knaap MS.
Ann Clin Transl Neurol. 2019 Aug;6(8):1407-1422. doi: 10.1002/acn3.50826. Epub 2019 Jul 18. PMID: 31402619; PMCID: PMC6689685.
Identification of repurposable cytoprotective drugs in vanishing white matter disease patient-derived cells
August 5, 2021
Ng, N., Cabral-da-Silva, M.C., Maksour, S. et al.
transl med commun 5, 18 (2020). https://doi.org/10.1186/s41231-020-00071-0
Vanishing white matter: a leukodystrophy due to astrocytic dysfunction
August 01, 2021
Bugiani M, Vuong C, Breur M, van der Knaap MS
Brain Pathol. 2018 May;28(3):408-421. doi: 10.1111/bpa.12606. PMID: 29740943.
Vanishing white matter disease
June 29, 2021
van der Knaap MS, Pronk JC, Scheper GC
Lancet Neurol. 2006 May;5(5):413-23. doi: 10.1016/S1474-4422(06)70440-9. PMID: 16632312.