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Results: 1 to 20 of 144

1.

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 15;288(11):7451-66. doi: 10.1074/jbc.M112.435388. Epub 2013 Jan 23.

PMID:
23344956
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Attenuation of endoplasmic reticulum stress in Pelizaeus-Merzbacher disease by an anti-malaria drug, chloroquine.

Morimura T, Numata Y, Nakamura S, Hirano E, Gotoh L, Goto YI, Urushitani M, Inoue K.

Exp Biol Med (Maywood). 2014 Apr;239(4):489-501. doi: 10.1177/1535370213520108. Epub 2014 Feb 12.

PMID:
24521562
[PubMed - indexed for MEDLINE]
3.

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 1;122(Pt 21):3942-53. doi: 10.1242/jcs.055160. Epub 2009 Oct 13.

PMID:
19825935
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Aberrant trafficking of a proteolipid protein in a mild Pelizaeus-Merzbacher disease.

Koizume S, Takizawa S, Fujita K, Aida N, Yamashita S, Miyagi Y, Osaka H.

Neuroscience. 2006 Sep 15;141(4):1861-9. Epub 2006 Jul 14.

PMID:
16844304
[PubMed - indexed for MEDLINE]
5.

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 8;26(45):11743-52.

PMID:
17093095
[PubMed - indexed for MEDLINE]
Free Article
6.

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 22;102(12):4342-7. Epub 2005 Mar 7.

PMID:
15753308
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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 Oct-Dec;17(4):293-300.

PMID:
24519770
[PubMed - indexed for MEDLINE]
Free Article
8.

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. doi: 10.1016/j.ymgme.2012.02.016. Epub 2012 Mar 3.

PMID:
22436581
[PubMed - indexed for MEDLINE]
9.

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 Apr 24;2(5):648-61. doi: 10.1016/j.stemcr.2014.03.007. eCollection 2014 May 6.

PMID:
24936452
[PubMed]
Free PMC Article
10.

Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype.

Hoffman-Zacharska D, Kmieć T, Poznański J, Jurek M, Bal J.

Brain Dev. 2013 Oct;35(9):877-80. doi: 10.1016/j.braindev.2012.10.018. Epub 2012 Dec 14.

PMID:
23245814
[PubMed - indexed for MEDLINE]
11.

A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.

Noetzli L, Sanz PG, Brodsky GL, Hinckley JD, Giugni JC, Giannaula RJ, Gonzalez-Alegre P, Di Paola J.

Gene. 2014 Jan 1;533(1):447-50. doi: 10.1016/j.gene.2013.09.076. Epub 2013 Oct 5.

PMID:
24103481
[PubMed - indexed for MEDLINE]
12.

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.

Woodward KJ.

Expert Rev Mol Med. 2008 May 19;10:e14. doi: 10.1017/S1462399408000677. Review.

PMID:
18485258
[PubMed - indexed for MEDLINE]
13.

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. doi: 10.1038/jhg.2012.71. Epub 2012 Jun 14.

PMID:
22695888
[PubMed - indexed for MEDLINE]
14.

Pelizaeus-Merzbacher disease-associated proteolipid protein 1 inhibits oligodendrocyte precursor cell differentiation via extracellular-signal regulated kinase signaling.

Miyamoto Y, Torii T, Tanoue A, Yamauchi J.

Biochem Biophys Res Commun. 2012 Jul 27;424(2):262-8. doi: 10.1016/j.bbrc.2012.06.101. Epub 2012 Jun 27.

PMID:
22750001
[PubMed - indexed for MEDLINE]
15.

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. doi: 10.1002/humu.20758.

PMID:
18470932
[PubMed - indexed for MEDLINE]
16.

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 6;104(45):17813-8. Epub 2007 Oct 25.

PMID:
17962415
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.

Garbern JY.

Cell Mol Life Sci. 2007 Jan;64(1):50-65. Review.

PMID:
17115121
[PubMed - indexed for MEDLINE]
18.

PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.

Inoue K.

Neurogenetics. 2005 Feb;6(1):1-16. Epub 2004 Dec 31. Review.

PMID:
15627202
[PubMed - indexed for MEDLINE]
19.

Dilated cardiomyopathy caused by aberrant endoplasmic reticulum quality control in mutant KDEL receptor transgenic mice.

Hamada H, Suzuki M, Yuasa S, Mimura N, Shinozuka N, Takada Y, Suzuki M, Nishino T, Nakaya H, Koseki H, Aoe T.

Mol Cell Biol. 2004 Sep;24(18):8007-17.

PMID:
15340063
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Misalignment of PLP/DM20 transmembrane domains determines protein misfolding in Pelizaeus-Merzbacher disease.

Dhaunchak AS, Colman DR, Nave KA.

J Neurosci. 2011 Oct 19;31(42):14961-71. doi: 10.1523/JNEUROSCI.2097-11.2011.

PMID:
22016529
[PubMed - indexed for MEDLINE]
Free Article

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