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Results: 1 to 20 of 58

Select item 233449561.

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]

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Select item 231423752.

Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.

Kammoun Jellouli N, Salem IH, Ellouz E, Louhichi N, tlili A, Kammoun F, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation Study.

Gene. 2013 Jan 25;513(2):233-8. doi: 10.1016/j.gene.2012.10.070. Epub 2012 Nov 7.

PMID:: 23142375; [PubMed - indexed for MEDLINE]

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Select item 230522943.

Neural stem cell engraftment and myelination in the human brain.

Gupta N, Henry RG, Strober J, Kang SM, Lim DA, Bucci M, Caverzasi E, Gaetano L, Mandelli ML, Ryan T, Perry R, Farrell J, Jeremy RJ, Ulman M, Huhn SL, Barkovich AJ, Rowitch DH.

Sci Transl Med. 2012 Oct 10;4(155):155ra137. doi: 10.1126/scitranslmed.3004373. Erratum in: Sci Transl Med. 2012 Dec 19;4(165):165er8.

PMID:: 23052294; [PubMed - indexed for MEDLINE]

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Select item 229115874.

Combined genetic and imaging diagnosis for two large Chinese families affected with Pelizaeus-Merzbacher disease.

Lv Y, Cao LH, Pang H, Lu LN, Li JL, Fu Y, Qi SL, Luo Y, Li-Ling J.

Genet Mol Res. 2012 Aug 6;11(3):2035-44. doi: 10.4238/2012.August.6.7.

PMID:: 22911587; [PubMed - indexed for MEDLINE]

Free Article

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Select item 229025535.

Proteolipid protein dimerization at cysteine 108: Implications for protein structure.

Daffu G, Sohi J, Kamholz J.

Neurosci Res. 2012 Oct;74(2):144-55. doi: 10.1016/j.neures.2012.07.009. Epub 2012 Aug 10.

PMID:: 22902553; [PubMed - indexed for MEDLINE]

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Select item 227865776.

Patient-derived iPS cells for unveiling the molecular pathology of Pelizaeus-Merzbacher disease: a commentary on 'Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication'.

Inoue K.

J Hum Genet. 2012 Sep;57(9):553-4. doi: 10.1038/jhg.2012.85. Epub 2012 Jul 12. No abstract available.

PMID:: 22786577; [PubMed - indexed for MEDLINE]

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Select item 227500017.

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]

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Select item 226958888.

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]

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Select item 224904269.

Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.

Shimojima K, Mano T, Kashiwagi M, Tanabe T, Sugawara M, Okamoto N, Arai H, Yamamoto T.

Eur J Med Genet. 2012 Jun;55(6-7):400-3. doi: 10.1016/j.ejmg.2012.02.013. Epub 2012 Mar 21.

PMID:: 22490426; [PubMed - indexed for MEDLINE]

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Select item 2243658110.

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]

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Select item 2242220811.

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.

Hobson GM, Garbern JY.

Semin Neurol. 2012 Feb;32(1):62-7. doi: 10.1055/s-0032-1306388. Epub 2012 Mar 15. Review.

PMID:: 22422208; [PubMed - indexed for MEDLINE]

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Select item 2241124212.

Leukodystrophies.

Perlman SJ, Mar S.

Adv Exp Med Biol. 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. Review.

PMID:: 22411242; [PubMed - indexed for MEDLINE]

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Select item 2240166913.

Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion.

Torisu H, Iwaki A, Takeshita K, Hiwatashi A, Sanefuji M, Fukumaki Y, Hara T.

Brain Dev. 2012 Nov;34(10):852-6. doi: 10.1016/j.braindev.2012.02.006. Epub 2012 Mar 7.

PMID:: 22401669; [PubMed - indexed for MEDLINE]

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Select item 2234315714.

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.

PMID:: 22343157; [PubMed - indexed for MEDLINE]

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Select item 2226412615.

Development of speech and hearing of two children with Pelizaeus-Merzbacher disease presenting only waves I and II of the auditory brainstem response.

Rikitake M, Kaga K.

Acta Otolaryngol. 2012 May;132(5):563-9. doi: 10.3109/00016489.2011.647362. Epub 2012 Jan 21.

PMID:: 22264126; [PubMed - indexed for MEDLINE]

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Select item 2203005016.

De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure.

Chen CP, Su YN, Lin HH, Chern SR, Tsai FJ, Wu PC, Lee CC, Chen YT, Wang W.

Taiwan J Obstet Gynecol. 2011 Sep;50(3):339-44. doi: 10.1016/j.tjog.2011.01.018.

PMID:: 22030050; [PubMed - indexed for MEDLINE]

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Select item 2201652917.

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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Select item 2200856418.

In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor.

Wood PL, Khan MA, Smith T, Ehrmantraut G, Jin W, Cui W, Braverman NE, Goodenowe DB.

Lipids Health Dis. 2011 Oct 18;10:182. doi: 10.1186/1476-511X-10-182.

PMID:: 22008564; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2197983019.

The myelin mutants as models to study myelin repair in the leukodystrophies.

Duncan ID, Kondo Y, Zhang SC.

Neurotherapeutics. 2011 Oct;8(4):607-24. doi: 10.1007/s13311-011-0080-y. Review.

PMID:: 21979830; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2178415420.

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. doi: 10.1016/j.nbd.2011.07.007. Epub 2011 Jul 18. Erratum in: Neurobiol Dis. 2012 Dec;48(3):507.

PMID:: 21784154; [PubMed - indexed for MEDLINE]

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16 free full-text articles in PubMed Central

In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor. [Lipids Health Dis. 2011]
In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor.
Wood PL, Khan MA, Smith T, Ehrmantraut G, Jin W, Cui W, Braverman NE, Goodenowe DB. Lipids Health Dis. 2011 Oct 18; 10:182. Epub 2011 Oct 18.
Review The myelin mutants as models to study myelin repair in the leukodystrophies. [Neurotherapeutics. 2011]
Review The myelin mutants as models to study myelin repair in the leukodystrophies.
Duncan ID, Kondo Y, Zhang SC. Neurotherapeutics. 2011 Oct; 8(4):607-24.
Targeted metabolomic analyses of cellular models of pelizaeus-merzbacher disease reveal plasmalogen and myo-inositol solute carrier dysfunction. [Lipids Health Dis. 2011]
Targeted metabolomic analyses of cellular models of pelizaeus-merzbacher disease reveal plasmalogen and myo-inositol solute carrier dysfunction.
Wood PL, Smith T, Pelzer L, Goodenowe DB. Lipids Health Dis. 2011 Jun 17; 10:102. Epub 2011 Jun 17.

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