Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response.
Elife. 2020 Dec 10;9:e56319. doi: 10.7554/eLife.56319. PMID: 33300869; PMCID: PMC7752137.
Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations
Mol Genet Genomic Med; 9(3):e1593. doi: 10.1002/mgg3.1593. Epub 2021 Jan 12.
Modeling vanishing white matter disease with patient-derived induced pluripotent stem cells reveals astrocytic dysfunction
CNS Neurosci Ther; 25(6):759-771. doi: 10.1111/cns.13107. Epub 2019 Feb 5. PMID: 30720246; PMCID: PMC6515702.
Astrocyte Subtype Vulnerability in Stem Cell Models of Vanishing White Matter
Ann Neurol; 86(5):780-792. doi: 10.1002/ana.25585. Epub 2019 Sep 10. PMID: 31433864; PMCID: PMC6856690.
Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter
Glia; 66(4):862-873. doi: 10.1002/glia.23289. Epub 2017 Dec 29. PMID: 29285798; PMCID: PMC5838785.
Astrocytes are central in the pathomechanisms of vanishing white matter
J Clin Invest; 126(4):1512-24. doi: 10.1172/JCI83908. Epub 2016 Mar 14. PMID: 26974157; PMCID: PMC4811153.
Leukoencephalopathy with vanishing white matter: a review
J Neuropathol Exp Neurol; 69(10):987-96. doi: 10.1097/NEN.0b013e3181f2eafa. PMID: 20838246.
Natural History of Vanishing White Matter
Ann Neurol; 84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6. PMID: 30014503; PMCID: PMC6175238.
Cell Replacement Therapy Improves Pathological Hallmarks in a Mouse Model of Leukodystrophy Vanishing White Matter
Stem Cell Reports; 12(3):441-450. doi: 10.1016/j.stemcr.2019.01.018. Epub 2019 Feb 21. PMID: 30799272; PMCID: PMC6411482.
Bergmann glia translocation: a new disease marker for vanishing white matter identifies therapeutic effects of Guanabenz treatment
Neuropathol Appl Neurobiol; 44(4):391-403. doi: 10.1111/nan.12411. Epub 2017 Aug 1. PMID: 28953319.