175 related articles for article (PubMed ID: 18835559)
1. 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]
2. Clinically relevant intronic splicing enhancer mutation in myelin proteolipid protein leads to progressive microglia and astrocyte activation in white and gray matter regions of the brain.
Bachstetter AD; Webster SJ; Van Eldik LJ; Cambi F
J Neuroinflammation; 2013 Dec; 10():146. PubMed ID: 24314267
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. Novel pathologic findings in patients with Pelizaeus-Merzbacher disease.
Laukka JJ; Kamholz J; Bessert D; Skoff RP
Neurosci Lett; 2016 Aug; 627():222-32. PubMed ID: 27222925
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.
Laššuthová P; Žaliová M; Inoue K; Haberlová J; Sixtová K; Sakmaryová I; Paděrová K; Mazanec R; Zámečník J; Šišková D; Garbern J; Seeman P
J Child Neurol; 2014 Jul; 29(7):924-31. PubMed ID: 23771846
[TBL] [Abstract][Full Text] [Related]
11. Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease.
Elitt MS; Barbar L; Shick HE; Powers BE; Maeno-Hikichi Y; Madhavan M; Allan KC; Nawash BS; Gevorgyan AS; Hung S; Nevin ZS; Olsen HE; Hitomi M; Schlatzer DM; Zhao HT; Swayze A; LePage DF; Jiang W; Conlon RA; Rigo F; Tesar PJ
Nature; 2020 Sep; 585(7825):397-403. PubMed ID: 32610343
[TBL] [Abstract][Full Text] [Related]
12. Gait abnormalities and progressive myelin degeneration in a new murine model of Pelizaeus-Merzbacher disease with tandem genomic duplication.
Clark K; Sakowski L; Sperle K; Banser L; Landel CP; Bessert DA; Skoff RP; Hobson GM
J Neurosci; 2013 Jul; 33(29):11788-99. PubMed ID: 23864668
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. A PLP splicing abnormality is associated with an unusual presentation of PMD.
Hobson GM; Huang Z; Sperle K; Stabley DL; Marks HG; Cambi F
Ann Neurol; 2002 Oct; 52(4):477-88. PubMed ID: 12325077
[TBL] [Abstract][Full Text] [Related]
15. Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes.
Inoue K
Adv Exp Med Biol; 2019; 1190():201-216. PubMed ID: 31760646
[TBL] [Abstract][Full Text] [Related]
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; 104(45):17813-8. PubMed ID: 17962415
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Neural stem cells restore myelin in a demyelinating model of Pelizaeus-Merzbacher disease.
Gruenenfelder FI; McLaughlin M; Griffiths IR; Garbern J; Thomson G; Kuzman P; Barrie JA; McCulloch ML; Penderis J; Stassart R; Nave KA; Edgar JM
Brain; 2020 May; 143(5):1383-1399. PubMed ID: 32419025
[TBL] [Abstract][Full Text] [Related]
19. Pelizaeus-Merzbacher disease: on the cusp of myelin medicine.
Elitt MS; Tesar PJ
Trends Mol Med; 2024 May; 30(5):459-470. PubMed ID: 38582621
[TBL] [Abstract][Full Text] [Related]
20. A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease.
Omata T; Nagai J; Shimbo H; Koizume S; Miyagi Y; Kurosawa K; Yamashita S; Osaka H; Inoue K
Brain Dev; 2016 Jun; 38(6):581-4. PubMed ID: 26725305
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
