Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 102

1.

Drug Screening Identifies Sigma-1-Receptor as a Target for the Therapy of VWM Leukodystrophy.

Atzmon A, Herrero M, Sharet-Eshed R, Gilad Y, Senderowitz H, Elroy-Stein O.

Front Mol Neurosci. 2018 Sep 18;11:336. doi: 10.3389/fnmol.2018.00336. eCollection 2018.

2.

Mutant eIF2B leads to impaired mitochondrial oxidative phosphorylation in vanishing white matter disease.

Raini G, Sharet R, Herrero M, Atzmon A, Shenoy A, Geiger T, Elroy-Stein O.

J Neurochem. 2017 Jun;141(5):694-707. doi: 10.1111/jnc.14024. Epub 2017 Apr 16.

3.

Poor cerebral inflammatory response in eIF2B knock-in mice: implications for the aetiology of vanishing white matter disease.

Cabilly Y, Barbi M, Geva M, Marom L, Chetrit D, Ehrlich M, Elroy-Stein O.

PLoS One. 2012;7(10):e46715. doi: 10.1371/journal.pone.0046715. Epub 2012 Oct 4.

4.

Proteomics-level analysis of myelin formation and regeneration in a mouse model for Vanishing White Matter disease.

Gat-Viks I, Geiger T, Barbi M, Raini G, Elroy-Stein O.

J Neurochem. 2015 Aug;134(3):513-26. doi: 10.1111/jnc.13142. Epub 2015 May 14.

5.

Proteomic and Metabolomic Analyses of Vanishing White Matter Mouse Astrocytes Reveal Deregulation of ER Functions.

Wisse LE, Penning R, Zaal EA, van Berkel CGM, Ter Braak TJ, Polder E, Kenney JW, Proud CG, Berkers CR, Altelaar MAF, Speijer D, van der Knaap MS, Abbink TEM.

Front Cell Neurosci. 2017 Dec 20;11:411. doi: 10.3389/fncel.2017.00411. eCollection 2017.

6.

Astrocytes are central in the pathomechanisms of vanishing white matter.

Dooves S, Bugiani M, Postma NL, Polder E, Land N, Horan ST, van Deijk AL, van de Kreeke A, Jacobs G, Vuong C, Klooster J, Kamermans M, Wortel J, Loos M, Wisse LE, Scheper GC, Abbink TE, Heine VM, van der Knaap MS.

J Clin Invest. 2016 Apr 1;126(4):1512-24. doi: 10.1172/JCI83908. Epub 2016 Mar 14.

7.

Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients.

Kantor L, Harding HP, Ron D, Schiffmann R, Kaneski CR, Kimball SR, Elroy-Stein O.

Hum Genet. 2005 Oct;118(1):99-106. Epub 2005 Oct 28.

PMID:
16041584
8.

Neuroprotective effects of the Sigma-1 receptor (S1R) agonist PRE-084, in a mouse model of motor neuron disease not linked to SOD1 mutation.

Peviani M, Salvaneschi E, Bontempi L, Petese A, Manzo A, Rossi D, Salmona M, Collina S, Bigini P, Curti D.

Neurobiol Dis. 2014 Feb;62:218-32. doi: 10.1016/j.nbd.2013.10.010. Epub 2013 Oct 16.

PMID:
24141020
9.

Vanishing white matter: a leukodystrophy due to astrocytic dysfunction.

Bugiani M, Vuong C, Breur M, van der Knaap MS.

Brain Pathol. 2018 May;28(3):408-421. doi: 10.1111/bpa.12606. Review.

PMID:
29740943
10.

EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy.

Dietrich J, Lacagnina M, Gass D, Richfield E, Mayer-Pröschel M, Noble M, Torres C, Pröschel C.

Nat Med. 2005 Mar;11(3):277-83. Epub 2005 Feb 20.

PMID:
15723074
11.

Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism.

Woody AL, Hsieh DT, McIver HK, Thomas LP, Rohena L.

Am J Med Genet A. 2015 Apr;167A(4):826-30. doi: 10.1002/ajmg.a.36961. Epub 2015 Mar 9.

PMID:
25758335
12.

[Eukaryotic translation initiation factor 2B and leukoencephalopathy with vanishing white matter].

Pan YX, Wu Y, Niu ZP, Jiang YW.

Beijing Da Xue Xue Bao Yi Xue Ban. 2009 Oct 18;41(5):608-10. Review. Chinese.

13.

Modeling vanishing white matter disease with patient-derived induced pluripotent stem cells reveals astrocytic dysfunction.

Zhou L, Li P, Chen N, Dai LF, Gao K, Liu YN, Shen L, Wang JM, Jiang YW, Wu Y.

CNS Neurosci Ther. 2019 Feb 5. doi: 10.1111/cns.13107. [Epub ahead of print]

PMID:
30720246
14.

Leukoencephalopathy with vanishing white matter: a review.

Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS.

J Neuropathol Exp Neurol. 2010 Oct;69(10):987-96. doi: 10.1097/NEN.0b013e3181f2eafa. Review.

PMID:
20838246
15.

The sigma-1 receptor mediates the beneficial effects of pridopidine in a mouse model of Huntington disease.

Ryskamp D, Wu J, Geva M, Kusko R, Grossman I, Hayden M, Bezprozvanny I.

Neurobiol Dis. 2017 Jan;97(Pt A):46-59. doi: 10.1016/j.nbd.2016.10.006. Epub 2016 Nov 3.

16.

Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease.

Shimada S, Shimojima K, Sangu N, Hoshino A, Hachiya Y, Ohto T, Hashi Y, Nishida K, Mitani M, Kinjo S, Tsurusaki Y, Matsumoto N, Morimoto M, Yamamoto T.

Brain Dev. 2015 Nov;37(10):960-6. doi: 10.1016/j.braindev.2015.03.003. Epub 2015 Apr 3.

PMID:
25843247
17.

A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.

Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M, Iai M, Yamashita S, Okabe T, Aida N, Tsurusaki Y, Saitsu H, Matsumoto N, Osaka H.

Brain Dev. 2015 Jun;37(6):638-42. doi: 10.1016/j.braindev.2014.10.002. Epub 2014 Oct 27.

PMID:
25457085
18.

Bergmann glia translocation: a new disease marker for vanishing white matter identifies therapeutic effects of Guanabenz treatment.

Dooves S, Bugiani M, Wisse LE, Abbink TEM, van der Knaap MS, Heine VM.

Neuropathol Appl Neurobiol. 2018 Jun;44(4):391-403. doi: 10.1111/nan.12411. Epub 2017 Aug 1.

PMID:
28953319
19.

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

Leegwater PA, Vermeulen G, Könst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS.

Nat Genet. 2001 Dec;29(4):383-8.

PMID:
11704758

Supplemental Content

Support Center