BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

230 related articles for article (PubMed ID: 33432707)

  • 1. Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.
    Slynko I; Nguyen S; Hamilton EMC; Wisse LE; de Esch IJP; de Graaf C; Bruning JB; Proud CG; Abbink TEM; van der Knaap MS
    Mol Genet Genomic Med; 2021 Mar; 9(3):e1593. PubMed ID: 33432707
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease.
    Wortham NC; Proud CG
    BMC Med Genet; 2015 Aug; 16():64. PubMed ID: 26285592
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Glial pathology in a novel spontaneous mutant mouse of the Eif2b5 gene: a vanishing white matter disease model.
    Terumitsu-Tsujita M; Kitaura H; Miura I; Kiyama Y; Goto F; Muraki Y; Ominato S; Hara N; Simankova A; Bizen N; Kashiwagi K; Ito T; Toyoshima Y; Kakita A; Manabe T; Wakana S; Takebayashi H; Igarashi H
    J Neurochem; 2020 Jul; 154(1):25-40. PubMed ID: 31587290
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.
    Wu Y; Pan Y; Du L; Wang J; Gu Q; Gao Z; Li J; Leng X; Qin J; Wu X; Jiang Y
    J Hum Genet; 2009 Feb; 54(2):74-7. PubMed ID: 19158808
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Vanishing white matter: deregulated integrated stress response as therapy target.
    Abbink TEM; Wisse LE; Jaku E; Thiecke MJ; Voltolini-González D; Fritsen H; Bobeldijk S; Ter Braak TJ; Polder E; Postma NL; Bugiani M; Struijs EA; Verheijen M; Straat N; van der Sluis S; Thomas AAM; Molenaar D; van der Knaap MS
    Ann Clin Transl Neurol; 2019 Aug; 6(8):1407-1422. PubMed ID: 31402619
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.
    Liu R; van der Lei HD; Wang X; Wortham NC; Tang H; van Berkel CG; Mufunde TA; Huang W; van der Knaap MS; Scheper GC; Proud CG
    Hum Mutat; 2011 Sep; 32(9):1036-45. PubMed ID: 21560189
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Ovarioleukodystrophy due to EIF2B5 mutations.
    Ibitoye RT; Renowden SA; Faulkner HJ; Scolding NJ; Rice CM
    Pract Neurol; 2016 Dec; 16(6):496-499. PubMed ID: 27651498
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The effect of genotype on the natural history of eIF2B-related leukodystrophies.
    Fogli A; Schiffmann R; Bertini E; Ughetto S; Combes P; Eymard-Pierre E; Kaneski CR; Pineda M; Troncoso M; Uziel G; Surtees R; Pugin D; Chaunu MP; Rodriguez D; Boespflug-Tanguy O
    Neurology; 2004 May; 62(9):1509-17. PubMed ID: 15136673
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of a Missense Variant in the EIF2B3 Gene Causing Vanishing White Matter Disease with Antenatal-Onset but Mild Symptoms and Long-Term Survival.
    Khorrami M; Khorram E; Yaghini O; Rezaei M; Hejazifar A; Iravani O; Yazdani V; Riahinezhad M; Kheirollahi M
    J Mol Neurosci; 2021 Nov; 71(11):2405-2414. PubMed ID: 33687620
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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; 41(5):608-10. PubMed ID: 19829687
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.
    Li W; Wang X; Van Der Knaap MS; Proud CG
    Mol Cell Biol; 2004 Apr; 24(8):3295-306. PubMed ID: 15060152
    [TBL] [Abstract][Full Text] [Related]  

  • 12. eIF2B: recent structural and functional insights into a key regulator of translation.
    Wortham NC; Proud CG
    Biochem Soc Trans; 2015 Dec; 43(6):1234-40. PubMed ID: 26614666
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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. PubMed ID: 25843247
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.
    van der Knaap MS; Leegwater PA; Könst AA; Visser A; Naidu S; Oudejans CB; Schutgens RB; Pronk JC
    Ann Neurol; 2002 Feb; 51(2):264-70. PubMed ID: 11835386
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 20838246
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel missense variant in
    Nourmohammadi P; Asadollahi M; Karamzade A; Eshaghkhani Y; Babaei M; Golchehre Z; Taheri SR; Hasani S; Taghizadeh M; Keramatipour M
    J Genet; 2023; 102():. PubMed ID: 37674283
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response.
    Keefe MD; Soderholm HE; Shih HY; Stevenson TJ; Glaittli KA; Bowles DM; Scholl E; Colby S; Merchant S; Hsu EW; Bonkowsky JL
    Elife; 2020 Dec; 9():. PubMed ID: 33300869
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Three-dimensional Structure of eIF2B: A Clue to Understanding the Pathogenesis of CACH/VWM Disease].
    Kashiwagi K; Ito T; Yokoyama S
    Brain Nerve; 2017 Jan; 69(1):45-50. PubMed ID: 28126977
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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. PubMed ID: 25457085
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutational analysis of the alpha subunit of eIF2B provides insights into the role of eIF2B bodies in translational control and VWM disease.
    Norris K; Hodgson RE; Dornelles T; Allen KE; Abell BM; Ashe MP; Campbell SG
    J Biol Chem; 2021; 296():100207. PubMed ID: 33334879
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.