146 related articles for article (PubMed ID: 16287154)
1. 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]
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. 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]
4. PLP1 alternative splicing in differentiating oligodendrocytes: characterization of an exonic splicing enhancer.
Wang E; Huang Z; Hobson GM; Dimova N; Sperle K; McCullough A; Cambi F
J Cell Biochem; 2006 Apr; 97(5):999-1016. PubMed ID: 16288477
[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. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation.
Osaka H; Koizume S; Aoyama H; Iwamoto H; Kimura S; Nagai J; Kurosawa K; Yamashita S
Brain Dev; 2010 Oct; 32(9):703-7. PubMed ID: 20022439
[TBL] [Abstract][Full Text] [Related]
13. Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA.
Hübner CA; Senning A; Orth U; Zerres K; Urbach H; Gal A; Rudnik-Schöneborn S
Neuroscience; 2005; 132(3):697-701. PubMed ID: 15837131
[TBL] [Abstract][Full Text] [Related]
14. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
Cailloux F; Gauthier-Barichard F; Mimault C; Isabelle V; Courtois V; Giraud G; Dastugue B; Boespflug-Tanguy O
Eur J Hum Genet; 2000 Nov; 8(11):837-45. PubMed ID: 11093273
[TBL] [Abstract][Full Text] [Related]
15. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.
Wolf NI; Sistermans EA; Cundall M; Hobson GM; Davis-Williams AP; Palmer R; Stubbs P; Davies S; Endziniene M; Wu Y; Chong WK; Malcolm S; Surtees R; Garbern JY; Woodward KJ
Brain; 2005 Apr; 128(Pt 4):743-51. PubMed ID: 15689360
[TBL] [Abstract][Full Text] [Related]
16. A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease.
Hobson G; Stabley D; Funanage V; Marks H
Hum Mutat; 2001 Feb; 17(2):152. PubMed ID: 11180600
[TBL] [Abstract][Full Text] [Related]
17. PLP/DM20 ratio is regulated by hnRNPH and F and a novel G-rich enhancer in oligodendrocytes.
Wang E; Dimova N; Cambi F
Nucleic Acids Res; 2007; 35(12):4164-78. PubMed ID: 17567613
[TBL] [Abstract][Full Text] [Related]
18. 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; 533(1):447-50. PubMed ID: 24103481
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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. PubMed ID: 23245814
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
