Works matching DE "VANISHING white matter disease"

Results: 13

Axonal abnormalities in vanishing white matter.
Published in:
Annals of Clinical & Translational Neurology, 2018, v. 5, n. 4, p. 429, doi. 10.1002/acn3.540
By:
- Klok, Melanie D.;
- Bugiani, Marianna;
- de Vries, Sharon I.;
- Gerritsen, Wouter;
- Breur, Marjolein;
- van der Sluis, Sophie;
- Heine, Vivi M.;
- Kole, Maarten H. P.;
- Baron, Wia;
- van der Knaap, Marjo S.
Publication type:
Article
Impaired Eukaryotic Translation Initiation Factor 2B Activity Specifically in Oligodendrocytes Reproduces the Pathology of Vanishing White Matter Disease in Mice.
Published in:
Journal of Neuroscience, 2014, v. 34, n. 36, p. 12182, doi. 10.1523/JNEUROSCI.1373-14.2014
By:
- Yifeng Lin;
- Xiaosha Pang;
- Guangcun Huang;
- Stephanie Jamison;
- Jingye Fang;
- Harding, Heather P.;
- Ron, David;
- Wensheng Lin
Publication type:
Article
Natural History of Vanishing White Matter.
Published in:
2018
By:
- Hamilton, Eline M. C.;
- van der Lei, Hannemieke D. W.;
- Vermeulen, Gerre;
- Gerver, Jan A. M.;
- Lourenço, Charles M.;
- Naidu, Sakkubai;
- Mierzewska, Hanna;
- Gemke, Reinoud J. B. J.;
- de Vet, Henrica C. W.;
- Uitdehaag, Bernard M. J.;
- Lissenberg‐Witte, Birgit I.;
- Research Group, V. W. M.;
- van der Knaap, Marjo S.;
- Lissenberg-Witte, Birgit I;
- Research Group, Vwm;
- VWM Research Group
Publication type:
journal article
A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter.
Published in:
2018
By:
- Hettiaracchchi, D.;
- Nethikumara, N.;
- Pathirana, B. A. P. S.;
- Padeniya, A.;
- Dissanayake, V. H. W.
Publication type:
Case Study
Adult-onset vanishing white matter disease with novel missense mutations in a subunit of translational regulator, EIF2B4.
Published in:
Clinical Genetics, 2015, v. 88, n. 4, p. 401, doi. 10.1111/cge.12554
By:
- Kanbayashi, Takamichi;
- Saito, Fumiaki;
- Matsukawa, Takashi;
- Oba, Hiroshi;
- Hokkoku, Keiichi;
- Hatanaka, Yuki;
- Tsuji, Shoji;
- Sonoo, Masahiro
Publication type:
Article
Mutant eIF2B leads to impaired mitochondrial oxidative phosphorylation in vanishing white matter disease.
Published in:
Journal of Neurochemistry, 2017, v. 141, n. 5, p. 694, doi. 10.1111/jnc.14024
By:
- Raini, Gali;
- Sharet, Reut;
- Herrero, Melisa;
- Atzmon, Andrea;
- Shenoy, Anjana;
- Geiger, Tamar;
- Elroy‐Stein, Orna
Publication type:
Article
Proteomics-level analysis of myelin formation and regeneration in a mouse model for Vanishing White Matter disease.
Published in:
Journal of Neurochemistry, 2015, v. 134, n. 3, p. 513, doi. 10.1111/jnc.13142
By:
- Gat‐Viks, Irit;
- Geiger, Tamar;
- Barbi, Mali;
- Raini, Gali;
- Elroy‐Stein, Orna
Publication type:
Article
Astrocytes are central in the pathomechanisms of vanishing white matter.
Published in:
2016
By:
- Dooves, Stephanie;
- Bugiani, Marianna;
- Postma, Nienke L.;
- Polder, Emiel;
- Land, Niels;
- Horan, Stephen T.;
- van Deijk, Anne-Lieke F.;
- van de Kreeke, Aleid;
- Jacobs, Gerbren;
- Vuong, Caroline;
- Klooster, Jan;
- Kamermans, Maarten;
- Wortel, Joke;
- Loos, Maarten;
- Wisse, Lisanne E.;
- Scheper, Gert C.;
- Abbink, Truus E. M.;
- Heine, Vivi M.;
- van der Knaap, Marjo S.
Publication type:
journal article
Proteomic and Metabolomic Analyses of Vanishing White Matter Mouse Astrocytes Reveal Deregulation of ER Functions.
Published in:
Frontiers in Cellular Neuroscience, 2017, p. 1, doi. 10.3389/fncel.2017.00411
By:
- Wisse, Lisanne E.;
- Penning, Renske;
- Zaal, Esther A.;
- van Berkel, Carola G. M.;
- ter Braak, Timo J.;
- Polder, Emiel;
- Kenney, Justin W.;
- Proud, Christopher G.;
- Berkers, Celia R.;
- Altelaar, Maarten A. F.;
- Speijer, Dave;
- van der Knaap, Marjo S.;
- Abbink, Truus E. M.
Publication type:
Article
Vanishing white matter: a leukodystrophy due to astrocytic dysfunction.
Published in:
Brain Pathology, 2018, v. 28, n. 3, p. 408, doi. 10.1111/bpa.12606
By:
- Bugiani, Marianna;
- Vuong, Caroline;
- Breur, Marjolein;
- van der Knaap, Marjo S.
Publication type:
Article
Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease.
Published in:
BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0204-z
By:
- Wortham, Noel C.;
- Proud, Christopher G.
Publication type:
Article
Bergmann glia translocation: a new disease marker for vanishing white matter identifies therapeutic effects of Guanabenz treatment.
Published in:
Neuropathology & Applied Neurobiology, 2018, v. 44, n. 4, p. 391, doi. 10.1111/nan.12411
By:
- Dooves, S.;
- Bugiani, M.;
- Wisse, L. E.;
- Abbink, T. E. M.;
- Knaap, M. S.;
- Heine, V. M.
Publication type:
Article
Drug Screening Identifies Sigma-1-Receptor as a Target for the Therapy of VWM Leukodystrophy.
Published in:
Frontiers in Molecular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnmol.2018.00336
By:
- Atzmon, Andrea;
- Herrero, Melisa;
- Sharet-Eshed, Reut;
- Gilad, Yocheved;
- Senderowitz, Hanoch;
- Elroy-Stein, Orna
Publication type:
Article