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Items: 1 to 20 of 25

1.

Endoplasmic Reticulum Protein Quality Control Failure in Myelin Disorders.

Volpi VG, Touvier T, D'Antonio M.

Front Mol Neurosci. 2017 Jan 4;9:162. doi: 10.3389/fnmol.2016.00162. Review.

2.

De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation.

Haas MA, Ngo L, Li SS, Schleich S, Qu Z, Vanyai HK, Cullen HD, Cardona-Alberich A, Gladwyn-Ng IE, Pagnamenta AT, Taylor JC, Stewart H, Kini U, Duncan KE, Teleman AA, Keays DA, Heng JI.

Cell Rep. 2016 Jun 7;15(10):2251-65. doi: 10.1016/j.celrep.2016.04.090.

3.

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.

4.

A reliable computational workflow for the selection of optimal screening libraries.

Gilad Y, Nadassy K, Senderowitz H.

J Cheminform. 2015 Dec 11;7:61. doi: 10.1186/s13321-015-0108-0.

6.

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.

7.

Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.

Zhang H, Dai L, Chen N, Zang L, Leng X, Du L, Wang J, Jiang Y, Zhang F, Wu X, Wu Y.

PLoS One. 2015 Mar 11;10(3):e0118001. doi: 10.1371/journal.pone.0118001.

8.

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.

Borck G, Hög F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Thiele H, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmüller J, Reymond A, Nürnberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C.

Genome Res. 2015 Feb;25(2):155-66. doi: 10.1101/gr.176925.114. Erratum in: Genome Res. 2015 Apr;25(4):609.

9.

Impaired eukaryotic translation initiation factor 2B activity specifically in oligodendrocytes reproduces the pathology of vanishing white matter disease in mice.

Lin Y, Pang X, Huang G, Jamison S, Fang J, Harding HP, Ron D, Lin W.

J Neurosci. 2014 Sep 3;34(36):12182-91. doi: 10.1523/JNEUROSCI.1373-14.2014.

10.

Vanishing white matter disease in a spanish population.

Turón-Viñas E, Pineda M, Cusí V, López-Laso E, Del Pozo RL, Gutiérrez-Solana LG, Moreno DC, Sierra-Córcoles C, Olabarrieta-Hoyos N, Madruga-Garrido M, Aguirre-Rodríguez J, González-Álvarez V, O'Callaghan M, Muchart J, Armstrong-Moron J.

J Cent Nerv Syst Dis. 2014 Jul 13;6:59-68. doi: 10.4137/JCNSD.S13540. Review.

11.

An autopsy case of infantile-onset vanishing white matter disease related to an EIF2B2 mutation (V85E) in a hemizygous region.

Hata Y, Kinoshita K, Miya K, Hirono K, Ichida F, Yoshida K, Nishida N.

Int J Clin Exp Pathol. 2014 May 15;7(6):3355-62.

12.

Insights into the architecture of the eIF2Bα/β/δ regulatory subcomplex.

Bogorad AM, Xia B, Sandor DG, Mamonov AB, Cafarella TR, Jehle S, Vajda S, Kozakov D, Marintchev A.

Biochemistry. 2014 Jun 3;53(21):3432-45. doi: 10.1021/bi500346u.

13.

Extensive use of RNA-binding proteins in Drosophila sensory neuron dendrite morphogenesis.

Olesnicky EC, Killian DJ, Garcia E, Morton MC, Rathjen AR, Sola IE, Gavis ER.

G3 (Bethesda). 2014 Feb 19;4(2):297-306. doi: 10.1534/g3.113.009795.

14.

ASTROCYTES: EMERGING STARS IN LEUKODYSTROPHY PATHOGENESIS.

Lanciotti A, Brignone MS, Bertini E, Petrucci TC, Aloisi F, Ambrosini E.

Transl Neurosci. 2013 Jun 1;4(2). doi: 10.2478/s13380-013-0118-1.

15.

PERK activation preserves the viability and function of remyelinating oligodendrocytes in immune-mediated demyelinating diseases.

Lin Y, Huang G, Jamison S, Li J, Harding HP, Ron D, Lin W.

Am J Pathol. 2014 Feb;184(2):507-19. doi: 10.1016/j.ajpath.2013.10.009.

16.

Oligodendrocyte-microglia cross-talk in the central nervous system.

Peferoen L, Kipp M, van der Valk P, van Noort JM, Amor S.

Immunology. 2014 Mar;141(3):302-13. doi: 10.1111/imm.12163. Review.

17.

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.

Borck G, Shin BS, Stiller B, Mimouni-Bloch A, Thiele H, Kim JR, Thakur M, Skinner C, Aschenbach L, Smirin-Yosef P, Har-Zahav A, Nürnberg G, Altmüller J, Frommolt P, Hofmann K, Konen O, Nürnberg P, Munnich A, Schwartz CE, Gothelf D, Colleaux L, Dever TE, Kubisch C, Basel-Vanagaite L.

Mol Cell. 2012 Nov 30;48(4):641-6. doi: 10.1016/j.molcel.2012.09.005.

18.

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.

19.

Brain connexins in demyelinating diseases: therapeutic potential of glial targets.

Cotrina ML, Nedergaard M.

Brain Res. 2012 Dec 3;1487:61-8. doi: 10.1016/j.brainres.2012.07.003. Review.

20.

Eukaryotic initiation factor 2 phosphorylation and translational control in metabolism.

Baird TD, Wek RC.

Adv Nutr. 2012 May 1;3(3):307-21. doi: 10.3945/an.112.002113. Review.

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