BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

188 related articles for article (PubMed ID: 19376225)

  • 1. PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients.
    Regis S; Grossi S; Corsolini F; Biancheri R; Filocamo M
    Biochim Biophys Acta; 2009 Jun; 1792(6):548-54. PubMed ID: 19376225
    [TBL] [Abstract][Full Text] [Related]  

  • 2. PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.
    Bonnet-Dupeyron MN; Combes P; Santander P; Cailloux F; Boespflug-Tanguy O; Vaurs-Barrière C
    Hum Mutat; 2008 Aug; 29(8):1028-36. PubMed ID: 18470932
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Deletion of a splicing enhancer disrupts PLP1/DM20 ratio and myelin stability.
    Wang E; Dimova N; Sperle K; Huang Z; Lock L; McCulloch MC; Edgar JM; Hobson GM; Cambi F
    Exp Neurol; 2008 Dec; 214(2):322-30. PubMed ID: 18835559
    [TBL] [Abstract][Full Text] [Related]  

  • 4. PLP overexpression perturbs myelin protein composition and myelination in a mouse model of Pelizaeus-Merzbacher disease.
    Karim SA; Barrie JA; McCulloch MC; Montague P; Edgar JM; Kirkham D; Anderson TJ; Nave KA; Griffiths IR; McLaughlin M
    Glia; 2007 Mar; 55(4):341-51. PubMed ID: 17133418
    [TBL] [Abstract][Full Text] [Related]  

  • 5. PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.
    Taube JR; Sperle K; Banser L; Seeman P; Cavan BC; Garbern JY; Hobson GM
    Hum Mol Genet; 2014 Oct; 23(20):5464-78. PubMed ID: 24890387
    [TBL] [Abstract][Full Text] [Related]  

  • 6. PLP/DM20 expression and turnover in a transgenic mouse model of Pelizaeus-Merzbacher disease.
    Karim SA; Barrie JA; McCulloch MC; Montague P; Edgar JM; Iden DL; Anderson TJ; Nave KA; Griffiths IR; McLaughlin M
    Glia; 2010 Nov; 58(14):1727-38. PubMed ID: 20629189
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Insertion of proteolipid protein into mitochondria but not DM20 regulates metabolism of cells.
    Somayajulu M; Bessert DA; Hüttemann M; Sohi J; Kamholz J; Skoff RP
    Neurosci Lett; 2018 Jun; 678():90-98. PubMed ID: 29729355
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.
    Hoffman-Zacharska D; Mierzewska H; Szczepanik E; Poznański J; Mazurczak T; Jakubiuk-Tomaszuk A; Mądry J; Kierdaszuk A; Bal J
    Med Wieku Rozwoj; 2013; 17(4):293-300. PubMed ID: 24519770
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.
    Lee ES; Moon HK; Park YH; Garbern J; Hobson GM
    J Neurol Sci; 2004 Sep; 224(1-2):83-7. PubMed ID: 15450775
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease.
    Carango P; Funanage VL; Quirós RE; Debruyn CS; Marks HG
    Ann Neurol; 1995 Oct; 38(4):610-7. PubMed ID: 7574457
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A common mechanism of PLP/DM20 misfolding causes cysteine-mediated endoplasmic reticulum retention in oligodendrocytes and Pelizaeus-Merzbacher disease.
    Dhaunchak AS; Nave KA
    Proc Natl Acad Sci U S A; 2007 Nov; 104(45):17813-8. PubMed ID: 17962415
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.
    Woodward KJ
    Expert Rev Mol Med; 2008 May; 10():e14. PubMed ID: 18485258
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS.
    Tantzer S; Sperle K; Kenaley K; Taube J; Hobson GM
    Mol Ther Nucleic Acids; 2018 Sep; 12():420-432. PubMed ID: 30195779
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.
    Hobson GM; Huang Z; Sperle K; Sistermans E; Rogan PK; Garbern JY; Kolodny E; Naidu S; Cambi F
    Hum Mutat; 2006 Jan; 27(1):69-77. PubMed ID: 16287154
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy.
    Shy ME; Hobson G; Jain M; Boespflug-Tanguy O; Garbern J; Sperle K; Li W; Gow A; Rodriguez D; Bertini E; Mancias P; Krajewski K; Lewis R; Kamholz J
    Ann Neurol; 2003 Mar; 53(3):354-65. PubMed ID: 12601703
    [TBL] [Abstract][Full Text] [Related]  

  • 16. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
    Inoue K
    Neurogenetics; 2005 Feb; 6(1):1-16. PubMed ID: 15627202
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Perturbed interactions of mutant proteolipid protein/DM20 with cholesterol and lipid rafts in oligodendroglia: implications for dysmyelination in spastic paraplegia.
    Krämer-Albers EM; Gehrig-Burger K; Thiele C; Trotter J; Nave KA
    J Neurosci; 2006 Nov; 26(45):11743-52. PubMed ID: 17093095
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.
    Shimojima K; Inoue T; Imai Y; Arai Y; Komoike Y; Sugawara M; Fujita T; Ideguchi H; Yasumoto S; Kanno H; Hirose S; Yamamoto T
    J Hum Genet; 2012 Sep; 57(9):580-6. PubMed ID: 22695888
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease.
    Ruiz M; Bégou M; Launay N; Ranea-Robles P; Bianchi P; López-Erauskin J; Morató L; Guilera C; Petit B; Vaurs-Barriere C; Guéret-Gonthier C; Bonnet-Dupeyron MN; Fourcade S; Auwerx J; Boespflug-Tanguy O; Pujol A
    Brain Pathol; 2018 Sep; 28(5):611-630. PubMed ID: 29027761
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
    Hobson GM; Davis AP; Stowell NC; Kolodny EH; Sistermans EA; de Coo IF; Funanage VL; Marks HG
    Neurology; 2000 Oct; 55(8):1089-96. PubMed ID: 11071483
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.