These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

212 related articles for article (PubMed ID: 17115121)

  • 41. 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]  

  • 42. Disease-associated mutations cause premature oligomerization of myelin proteolipid protein in the endoplasmic reticulum.
    Swanton E; Holland A; High S; Woodman P
    Proc Natl Acad Sci U S A; 2005 Mar; 102(12):4342-7. PubMed ID: 15753308
    [TBL] [Abstract][Full Text] [Related]  

  • 43. PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.
    Mądry J; Hoffman-Zacharska D; Królicki L; Jakuciński M; Friedman A
    Neurol Neurochir Pol; 2010; 44(5):511-5. PubMed ID: 21082496
    [TBL] [Abstract][Full Text] [Related]  

  • 44. 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]  

  • 45. Genetic background influences UPR but not PLP processing in the rumpshaker model of PMD/SPG2.
    McLaughlin M; Karim SA; Montague P; Barrie JA; Kirkham D; Griffiths IR; Edgar JM
    Neurochem Res; 2007 Feb; 32(2):167-76. PubMed ID: 16944321
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Differences in endoplasmic-reticulum quality control determine the cellular response to disease-associated mutants of proteolipid protein.
    Roboti P; Swanton E; High S
    J Cell Sci; 2009 Nov; 122(Pt 21):3942-53. PubMed ID: 19825935
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Pelizaeus-Merzbacher disease, easily misdiagnosed as cerebral palsy: a report of a three-generation family.
    Chen YC; Liang WC; Su YN; Jong YJ
    Pediatr Neonatol; 2014 Apr; 55(2):150-3. PubMed ID: 23597542
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Involvement of ER stress in dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 missense mutations shown by iPSC-derived oligodendrocytes.
    Numasawa-Kuroiwa Y; Okada Y; Shibata S; Kishi N; Akamatsu W; Shoji M; Nakanishi A; Oyama M; Osaka H; Inoue K; Takahashi K; Yamanaka S; Kosaki K; Takahashi T; Okano H
    Stem Cell Reports; 2014 May; 2(5):648-61. PubMed ID: 24936452
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.
    Wang JM; Wu Y; Wang HF; Deng YH; Yang YL; Qin J; Li XY; Wu XR; Jiang YW
    Chin Med J (Engl); 2008 Sep; 121(17):1638-42. PubMed ID: 19024090
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Insertion of proteolipid protein into oligodendrocyte mitochondria regulates extracellular pH and adenosine triphosphate.
    Appikatla S; Bessert D; Lee I; Hüttemann M; Mullins C; Somayajulu-Nitu M; Yao F; Skoff RP
    Glia; 2014 Mar; 62(3):356-73. PubMed ID: 24382809
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease.
    Numata Y; Morimura T; Nakamura S; Hirano E; Kure S; Goto YI; Inoue K
    J Biol Chem; 2013 Mar; 288(11):7451-7466. PubMed ID: 23344956
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Unusual clinical and magnetic resonance imaging findings in a family with proteolipid protein gene mutation.
    Battini R; Bianchi MC; Boespflug-Tanguy O; Tosetti M; Bonanni P; Canapicchi R; Cioni G
    Arch Neurol; 2003 Feb; 60(2):268-72. PubMed ID: 12580714
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.
    Nevin ZS; Factor DC; Karl RT; Douvaras P; Laukka J; Windrem MS; Goldman SA; Fossati V; Hobson GM; Tesar PJ
    Am J Hum Genet; 2017 Apr; 100(4):617-634. PubMed ID: 28366443
    [TBL] [Abstract][Full Text] [Related]  

  • 54. PLP1 gene analysis in 88 patients with leukodystrophy.
    Martínez-Montero P; Muñoz-Calero M; Vallespín E; Campistol J; Martorell L; Ruiz-Falcó MJ; Santana A; Pons R; Dinopoulos A; Sierra C; Nevado J; Molano J
    Clin Genet; 2013 Dec; 84(6):566-71. PubMed ID: 23347225
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Effect of curcumin in a mouse model of Pelizaeus-Merzbacher disease.
    Yu LH; Morimura T; Numata Y; Yamamoto R; Inoue N; Antalfy B; Goto Y; Deguchi K; Osaka H; Inoue K
    Mol Genet Metab; 2012 May; 106(1):108-14. PubMed ID: 22436581
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Pelizaeus-Merzbacher disease as a chromosomal disorder.
    Yamamoto T; Shimojima K
    Congenit Anom (Kyoto); 2013 Mar; 53(1):3-8. PubMed ID: 23480352
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Characterization of a PLP-overexpressing transgenic rat, a model for the connatal form of Pelizaeus-Merzbacher disease.
    Mayer JA; Larsen EC; Kondo Y; Duncan ID
    Neurobiol Dis; 2011 Nov; 44(2):231-8. PubMed ID: 21784154
    [TBL] [Abstract][Full Text] [Related]  

  • 58. A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.
    Seeman P; Paderova K; Benes V; Sistermans EA
    Int J Mol Med; 2002 Feb; 9(2):125-9. PubMed ID: 11786921
    [TBL] [Abstract][Full Text] [Related]  

  • 59. A novel PLP1 mutation further expands the clinical heterogeneity at the locus.
    Hand CK; Bernard G; Dubé MP; Shevell MI; Rouleau GA
    Can J Neurol Sci; 2012 Mar; 39(2):220-4. PubMed ID: 22343157
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.
    Biancheri R; Grossi S; Regis S; Rossi A; Corsolini F; Rossi DP; Cavalli P; Severino M; Filocamo M
    Clin Genet; 2014 Mar; 85(3):267-72. PubMed ID: 23711321
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.