Works matching DE "VANISHING white matter disease"

Results: 13

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

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

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

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

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

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

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

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

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

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

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

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