| 1 | MPZ, PLP1
|
| Proteolipid protein cannot replace P0 protein as the major structural protein of peripheral nervous system myelin.
|
| Yin X, Kiryu-Seo S, Kidd GJ, Feltri ML, Wrabetz L, Trapp BD.
|
| Glia 63(1):66-77. doi: 10.1002/glia.22733. Epub 2014 Jul 28. 2015
|
| 2 | PLP1
|
| Progesterone antagonist therapy in a pelizaeus-merzbacher mouse model.
|
| Prukop T, Epplen DB, Nientiedt T, Wichert SP, Fledrich R, Stassart RM, Rossner MJ, Edgar JM, Werner HB, Nave KA, Sereda MW.
|
| Am J Hum Genet 94(4):533-46. doi: 10.1016/j.ajhg.2014.03.001. Epub 2014 Mar 27.
2014
|
| 3 | PLP1
|
| Plp1 gene duplication inhibits airway responsiveness and induces lung inflammation.
|
| Rodriguez E, Sakowski L, Hobson GM, Armani MH, Kreiger PA, Zhu Y, Waldman SA, Shaffer TH.
|
| Pulm Pharmacol Ther 30C:22-31. doi: 10.1016/j.pupt.2014.10.004. [Epub ahead of print]
2014
|
| 4 | PLP1, PMDX
|
| A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.
|
| Shiihara T, Watanabe M, Moriyama K, Uematsu M, Sameshima K.
|
| Brain Dev rain Dev. 2014 Jul 16. pii: S0387-7604(14)00159-4. doi: 10.1016/j.braindev.2014.06.011. [Epub ahead of print]
2014
|
| 5 | PLP1, PMDX
|
| Pelizaeus-Merzbacher disease: cellular pathogenesis and pharmacologic therapy.
|
| Torii T, Miyamoto Y, Yamauchi J, Tanoue A.
|
| Pediatr Int 56(5):659-66. doi: 10.1111/ped.12450.
2014
|
| 6 | HABC, PLP1, TUBB4A
|
| A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.
|
| Shimojima K, Okumura A, Ikeno M, Nishimura A, Saito A, Saitsu H, Matsumoto N, Yamamoto T.
|
| Brain Dev rain Dev. 2014 Jun 26. pii: S0387-7604(14)00131-4. doi: 10.1016/j.braindev.2014.05.004. [Epub ahead of print]
2014
|
| 7 | PLP1, PMDX
|
| 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 23(20):5464-78. doi: 10.1093/hmg/ddu271. Epub 2014 Jun 1.
2014
|
| 8 | PLP1, SPG2
|
| 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 533(1):447-50. doi: 10.1016/j.gene.2013.09.076. Epub 2013 Oct 5.
2014
|
| 9 | ATL, KIF5A, KIF5B, KIF5C, PLP1, REEP1, REEP5, ZFYVE27
|
| Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia.
|
| Hashimoto Y, Shirane M, Matsuzaki F, Saita S, Ohnishi T, Nakayama KI.
|
| J Biol Chem 289(19):12946-61. doi: 10.1074/jbc.M113.528687. Epub 2014 Mar 25.
2014
|
| 10 | PLP1
|
| 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 288(11):7451-66. doi: 10.1074/jbc.M112.435388. Epub 2013 Jan 23.
2013
|
| 11 | PLP1, PMDX
|
| Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation.
|
| Regis S, Corsolini F, Grossi S, Tappino B, Cooper DN, Filocamo M.
|
| PLoS One 8(9):e73633. doi: 10.1371/journal.pone.0073633. eCollection 2013.
2013
|
| 12 | PLP1
|
| 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 424(2):262-8. doi: 10.1016/j.bbrc.2012.06.101. Epub 2012 Jun 27.
2012
|
| 13 | PLP1
|
| Proteolipid protein dimerization at cysteine 108: Implications for protein structure.
|
| Daffu G, Sohi J, Kamholz J.
|
| Neurosci Res 74(2):144-55. doi: 10.1016/j.neures.2012.07.009. Epub 2012 Aug 10.
2012
|
| 14 | PLP1, PMDX
|
| 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 57(9):580-6. doi: 10.1038/jhg.2012.71. Epub 2012 Jun 14.
2012
|
| 15 | MAL2, PLP1
|
| Interaction of PLP with GFP-MAL2 in the human oligodendroglial cell line HOG.
|
| Bello-Morales R, Pérez-Hernández M, Rejas MT, Matesanz F, Alcina A, López-Guerrero JA.
|
| PLoS One 6(5):e19388.
2011
|
| 16 | PLP1
|
| The proteolipid protein promoter drives expression outside of the oligodendrocyte lineage during embryonic and early postnatal development.
|
| Michalski JP, Anderson C, Beauvais A, De Repentigny Y, Kothary R.
|
| PLoS One 6(5):e19772.
2011
|
| 17 | PLP1, VAMP3, VAMP7
|
| Transport of the major myelin proteolipid protein is directed by VAMP3 and VAMP7.
|
| Feldmann A, Amphornrat J, Schönherr M, Winterstein C, Möbius W, Ruhwedel T, Danglot L, Nave KA, Galli T, Bruns D, Trotter J, Krämer-Albers EM.
|
| J Neurosci 31(15):5659-72.
2011
|
| 18 | PLP1, PMDX
|
| A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease.
|
| Fukumura S, Adachi N, Nagao M, Tsutsumi H.
|
| Brain Dev 33(8):697-9. Epub 2010 Dec 21.
2011
|
| 19 | PLP1, PMDX
|
| Misalignment of PLP/DM20 transmembrane domains determines protein misfolding in Pelizaeus-Merzbacher disease.
|
| Dhaunchak AS, Colman DR, Nave KA.
|
| J Neurosci 31(42):14961-71.
2011
|
| 20 | PLP1, PMDX
|
| 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 44(5):511-5.
2010
|
| 21 | PLP1
|
| Novel neuronal proteolipid protein isoforms encoded by the human myelin proteolipid protein 1 gene.
|
| Sarret C, Combes P, Micheau P, Gelot A, Boespflug-Tanguy O, Vaurs-Barriere C.
|
| Neuroscience 166(2):522-38. Epub 2009 Dec 27.
2010
|
| 22 | PLP1, PMDX
|
| Magnetic resonance imaging of a unique mutation in a family with Pelizaeus-Merzbacher disease.
|
| Miller E, Widjaja E, Nilsson D, Yoon G, Banwell B, Blaser S.
|
| Am J Med Genet A 152A(3):748-52.
2010
|
| 23 | PLP1, PMDX
|
| Arena syndrome is caused by a missense mutation in PLP1.
|
| Stevenson RE, Tarpey P, May MM, Stratton MR, Schwartz CE.
|
| Am J Med Genet A 149A(5):1081. No abstract available.
2009
|
| 24 | PLP1
|
| Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.
|
| Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H, Kubota M, Tohyama J, Sasaki M, Oka A, Saito K, Osawa M, Yamamoto T.
|
| Brain Dev rain Dev. 2009 Mar 26. [Epub ahead of print]
2009
|
| 25 | PLP1, PMDX
|
| Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1.
|
| Sima AA, Pierson CR, Woltjer RL, Hobson GM, Golden JA, Kupsky WJ, Schauer GM, Bird TD, Skoff RP, Garbern JY.
|
| Acta Neuropathol 118(4):531-9. Epub 2009 Jun 27.
2009
|
| 26 | PLP1
|
| Neuronal expression of the proteolipid protein gene in the medulla of the mouse.
|
| Miller MJ, Kangas CD, Macklin WB.
|
| J Neurosci Res 87(13):2842-53.
2009
|
| 27 | PLP1
|
| Leydig cells express the myelin proteolipid protein gene and incorporate a new alternatively spliced exon.
|
| Li S, Greuel BT, Meng F, Pereira GB, Pitts A, Dobretsova A, Wight PA.
|
| Gene 436(1-2):30-6. Epub 2009 Feb 13.
2009
|
| 28 | HNRNPF, HNRNPH2, PLP1
|
| Heterogeneous nuclear ribonucleoproteins H and F regulate the proteolipid protein/DM20 ratio by recruiting U1 small nuclear ribonucleoprotein through a complex array of G runs.
|
| Wang E, Cambi F.
|
| J Biol Chem 284(17):11194-204. doi: 10.1074/jbc.M809373200. Epub 2009 Feb 25.
2009
|
| 29 | PMDX, PLP1
|
| Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications.
|
| Regis S, Biancheri R, Bertini E, Burlina A, Lualdi S, Bianco MG, Devescovi R, Rossi A, Uziel G, Filocamo M.
|
| Clin Genet 73(3):279-87. Epub 2007 Jan 9. 2008
|
| 30 | PLP1, PMDX, SPG2
|
| 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 29(8):1028-36.
2008
|
| 31 | SPG2, PLP1
|
| Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.
|
| Garbern JY.
|
| Cell Mol Life Sci 64(1):50-65. Review. 2007
|
| 32 | PLP1, PMDX
|
| 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 104(45):17813-8. Epub 2007 Oct 25. 2007
|
| 33 | HNRNPF, HNRNPH2, PLP1
|
| 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 35(12):4164-78. Epub 2007 Jun 12.
2007
|
| 34 | PLP1, PMDX, DRD4, DRD5
|
| Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
|
| Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR.
|
| Hum Mol Genet 15(14):2250-65. Epub 2006 Jun 14. 2006
|
| 35 | PLP1, SPG2
|
| Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.
|
| Lee JA, Madrid RE, Sperle K, Ritterson CM, Hobson GM, Garbern J, Lupski JR, Inoue K.
|
| Ann Neurol 59(2):398-403. 2006
|
| 36 | PMDX, PLP1
|
| Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.
|
| Gao Q, Thurston VC, Vance GH, Dlouhy SR, Hodes ME.
|
| Clin Genet 68(5):466-7. 2005
|
| 37 | PMDX, PLP1
|
| Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.
|
| Woodward KJ, Cundall M, Sperle K, Sistermans EA, Ross M, Howell G, Gribble SM, Burford DC, Carter NP, Hobson DL, Garbern JY, Kamholz J, Heng H, Hodes ME, Malcolm S, Hobson GM.
|
| Am J Hum Genet 77(6):966-87. Epub 2005 Oct 19. 2005
|
| 38 | PLP1
|
| Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA.
|
| Hubner CA, Senning A, Orth U, Zerres K, Urbach H, Gal A, Rudnik-Schoneborn S.
|
| Neuroscience 132(3):697-701. 2005
|
| 39 | PLP1, SPG2
|
| PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
|
| Inoue K.
|
| Neurogenetics 6(1):1-16. Epub 2004 Dec 31. Review. 2005
|
| 40 | PLP1, SPG2, PMDX
|
| Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene.
|
| Hudson LD.
|
| J Child Neurol 18(9):616-24. Review. 2003
|
| 41 | PMDX, PLP1
|
| Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.
|
| Inoue K, Osaka H, Thurston VC, Clarke JT, Yoneyama A, Rosenbarker L, Bird TD, Hodes ME, Shaffer LG, Lupski JR.
|
| Am J Hum Genet 71(4):838-53. Epub 2002 Sep 20. 2002
|
| 42 | PLP1
|
| Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations.
|
| Bonavita S, Schiffmann R, Moore DF, Frei K, Choi B, Patronas MD N, Virta A, Boespflug-Tanguy O, Tedeschi G.
|
| Neurology 56(6):785-8. 2001
|
| 43 | PLP1, PMDX
|
| Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.
|
| Hodes ME, Woodward K, Spinner NB, Emanuel BS, Enrico-Simon A, Kamholz J, Stambolian D, Zackai EH, Pratt VM, Thomas IT, Crandall K, Dlouhy SR, Malcolm S.
|
| Am J Hum Genet 67(1):14-22. 2000
|
| 44 | PLP1, PLP2, PMDX, SPG2
|
| Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations.
|
| Cailloux F, Gauthier-Barichard F, Mimault C, Isabelle V, Courtois V, Giraud G, Dastugue B, Boespflug-Tanguy O.
|
| Eur J Hum Genet 8(11):837-45. 2000
|
| 45 | PLP1, PMDX, SPG2
|
| Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).
|
| Hodes ME, et al.
|
| Am J Med Genet 82 : 132-139. 1999
|
| 46 | PLP1, PMDX
|
| Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity.
|
| Osaka H, Kawanishi C, Inoue K, Onishi H, Kobayashi T, Sugiyama N, Kosaka K, Nezu A, Fujii K, Sugita K, Kodama K, Murayama K, Murayama S, Kanazawa I, Kimura S.
|
| Ann Neurol 45(1):59-64. 1999
|
| 47 | PLP1, SPG2
|
| Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.
|
| Sivakumar K, et al.
|
| Ann Neurol 45(5):680-3. 1999
|
| 48 | PMDX, PLP1
|
| Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.
|
| Inoue K, et al.
|
| Ann Neurol 45(5):624-32. 1999
|
| 49 | PLP1, PMDX
|
| A de novo splice donor site mutation causes in-frame deletion of 14 amino acids in the proteolipid protein in Pelizaeus-Merzbacher disease.
|
| Aoyagi Y, et al.
|
| Ann Neurol 46(1):112-5 1999
|
| 50 | PLP1
|
| The molecular pathogenesis of Pelizaeus-Merzbacher disease.
|
| Garbern J, Cambi F, Shy M, Kamholz J.
|
| Arch Neurol 56(10):1210-4. Review 1999
|
| 51 | PLP1, SPG2
|
| X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP).
|
| Hodes ME, Hadjisavvas A, Butler IJ, Aydanian A, Dlouhy SR.
|
| Am J Med Genet 75(5):516-7. 1998
|
| 52 | PLP1, PMDX
|
| Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.
|
| Sistermans EA, et al.
|
| Neurology 50 : 1749-1754. 1998
|
| 53 | PLP1, PMDX
|
| Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease.
|
| Hodes ME, et al.
|
| Am J Med Genet 69 : 121-125. 1997
|
| 54 | PLP1, PMDX
|
| A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease.
|
| Kawanishi C, et al.
|
| Hum Mutat 9 : 475. 1997
|
| 55 | PLP1, PMDX
|
| A new proteolipid lipoprotein mutation in Pelizaeus-Merzbacher disease.
|
| Verhagen WIM, et al.
|
| J Neurol Sci 147 : 215-216. 1997
|
| 56 | PLP1, PMDX
|
| Pelizaeus-Merzbacher-like disease: exclusion of the proteolipid protein locus and documentation of a new locus on Xq.
|
| Lazzarini A, Schwarz KO, Jiang S, Stenroos ES, Lehner T, Johnson WG.
|
| Neurology 49(3):824-32. 1997
|
| 57 | PLP1, PMDX
|
| Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease.
|
| Wang PJ, Hwu WL, Lee WT, Wang TR, Shen YZ.
|
| Pediatr Neurol 17(2):125-8. 1997
|
| 58 | PLP1, PMDX
|
| A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family.
|
| Sistermans EA, et al.
|
| Hum Genet 97 : 337-339. 1996
|
| 59 | PLP1, PMDX
|
| Pelizaeus-Merzbacher disease : a novel mutation in the 5'-untranslated region of the proteolipid protein gene.
|
| Kawanishi C, et al.
|
| Hum Mutat 7 : 355-357. 1996
|
| 60 | PLP1, PMDX
|
| A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR.
|
| Inoue K, et al.
|
| Am J Hum Genet 59 : 32-39. 1996
|
| 61 | PLP1, PMDX
|
| A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease.
|
| Gow A, et al.
|
| Nat Genet 13 : 422-428. 1996
|
| 62 | PLP1, SPG2
|
| A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia.
|
| Donnelly A, et al.
|
| Hum Mutat 8 : 384-385. 1996
|
| 63 | PLP1, PMDX
|
| Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene.
|
| Hodes ME, et al.
|
| Am J Med Genet 55 : 397-401. 1995
|
| 64 | PLP1, PMDX
|
| Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene.
|
| Pratt VM, et al.
|
| Am J Med Genet 55 : 402-404. 1995
|
| 65 | PLP1, PMDX
|
| In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.
|
| Kleindorfer DO, et al.
|
| Am J Med Genet 55 : 405-407. 1995
|
| 66 | PMDX, PLP1
|
| A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
|
| Pratt VM, et al.
|
| Neurology 45 : 394-395. 1995
|
| 67 | PLP1, PMDX
|
| Pelizaeus-Merzbacher disease : a point mutation in exon 6 of the proteolipid protein (PLP) gene.
|
| Pratt VM, et al.
|
| Clin Genet 47 : 99-100. 1995
|
| 68 | PLP1
|
| Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene.
|
| Mimault C, et al.
|
| Hum Genet 96 : 236. 1995
|
| 69 | PLP1, SPG2
|
| X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
|
| Saugier-Veber P, et al.
|
| Nat Genet 6 : 257-260. 1994
|
| 70 | PMDX, PLP1
|
| Genetic homogeneity of Pelizaeus-Merzbacher disease : tight linkage to the proteolipoprotein locus in 16 affected families.
|
| Boespflug-Tanguy O, et al.
|
| Am J Hum Genet 55 : 461-467. 1994
|
| 71 | PLP1, PMDX
|
| Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy : clinical and molecular studies.
|
| Kaye EM, et al.
|
| Ann Neurol 36 : 916-919. 1994
|
| 72 | DXS17, DXS24, DXS54, DXS83, DXS87, DXS94, DXS147, DXS178, DXS211, PLP1, COL4A5
|
| Pulsed-field gel electrophoresis and radiation hybrid mapping analyses enable the ordering of eleven DNA loci in Xq22.
|
| O'Reilly MAJ, et al.
|
| Genomics 15 : 275-282. 1993
|
| 73 | PMDX, PLP1
|
| A G to T mutation at a splice site in a case of Pelizaeus-Merzbacher disease.
|
| Strautnieks S, et al.
|
| Hum Mol Genet 2 : 2191-2192. 1993
|
| 74 | PMDX, PLP1
|
| A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease.
|
| Kurosawa K, et al.
|
| Hum Mol Genet 2 : 2187-2189. 1993
|
| 75 | PLP1, PMDX
|
| Pelizaeus-Merzbacher disease : a frameshift deletion/insertion event in the myelin proteolipid gene.
|
| Pham-Dinh D, et al.
|
| Hum Mol Genet 2 : 465-467. 1993
|
| 76 | PLP1, PMDX
|
| Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred.
|
| Pratt VM, et al.
|
| Am J Hum Genet 52 : 1053-1056. 1993
|
| 77 | PMDX, PLP1
|
| Pelizaeus-Merzbacher disease caused by a splice mutation of the proteolipid protein gene and a rearrangement leading to duplication.
|
| Ellis D, et al.
|
| Am J Hum Genet 53 : 1155. 1993
|
| 78 | PMDX, PLP1
|
| An in-frame deletion in the proteolipid protein gene in a family with Pelizaeus-Merzbacher disease.
|
| Kleindorfer DO, et al.
|
| Am J Hum Genet 53 : 1171. 1993
|
| 79 | PMDX, PLP1
|
| Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.
|
| Doll R, et al.
|
| Am J Hum Genet 51 : 161-169. 1992
|
| 80 | PLP1
|
| RFLP detected by a genomic probe from the human X-linked proteolipid protein gene, PLP.
|
| Raskind WH, et al.
|
| Hum Mol Genet 1 : 288. 1992
|
| 81 | PMDX, PLP1
|
| The role of proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.
|
| Bridge PJ, et al.
|
| Am J Hum Genet 51 : A209. 1992
|
| 82 | PMDX, PLP1
|
| Pelizaeus-Merzbacher disease : detection of mutations Thr181-Pro and Leu223-Pro in the proteolipid protein gene, and prenatal diagnosis.
|
| Straunieks S, et al.
|
| Am J Hum Genet 51 : 871-878. 1992
|
| 83 | PLP1, PMDX
|
| Pelizaeus-Merzbacher disease : a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.
|
| Pham-Dinh D, et al.
|
| Proc Natl Acad Sci U S A 88 : 7562-7566. 1991
|
| 84 | PLP1
|
| AhaII polymorphism in human X-linked proteolipid protein gene (PLP).
|
| Trofatter JA, et al.
|
| Nucleic Acids Res 19 : 6057. 1991
|
| 85 | PLP1
|
| Pelizaeus-Merzbacher disease : clinical and DNA-linkage study of an extended family.
|
| Johnson VP, et al.
|
| Am J Med Genet 41 : 355-361. 1991
|
| 86 | PLP1, PMDX
|
| Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
|
| Gencic S, et al.
|
| Am J Hum Genet 45 : 435-442. 1989
|
| 87 | PLP1, PMDX
|
| Pelizaeus-Merzbacher disease shows perfect linkage to sequence variant in second exon of proteolipid protein gene.
|
| Trofatter JA, et al.
|
| (HGM10) Cytogenet Cell Genet 51 : 1093. 1989
|
| 88 | PMDX, PLP1
|
| Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.
|
| Hudson LD, et al.
|
| Proc Natl Acad Sci U S A 86 : 8128-8131. 1989
|
| 89 | PMDX, PLP1
|
| Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease.
|
| Koeppen AH, et al.
|
| Ann Neurol 21 : 159-170. 1987
|
| 90 | PLP1
|
| Regional assignment of the proteolipid protein (PLP) gene to Xq21.2-q22 and gene analysis in X-linked Pelizaeus-Merzbacher disease.
|
| Willard HF, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 716. 1987
|
| 91 | PLP1
|
| Subregional localization of the gene for myelin proteolipid protein to Xq21.33-q22 by deletion mapping.
|
| Yang HM, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 722. 1987
|
| 92 | PLP1
|
| An AG-GC transition at a splice site in the myelin proteolipid protein gene in jimpy mice results in the removal of an exon.
|
| Macklin WD, et al.
|
| FEBS Lett 223 : 417-421. 1987
|
| 93 | PLP1
|
| Myelin proteolipid protein (PLP and DM-20) transcripts are deleted in jimpy mutant mice.
|
| Morello D, et al.
|
| EMBO J 5 : 3489-3494. 1986
|
| 94 | PLP1
|
| The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome.
|
| Mattei MG, et al.
|
| Hum Genet 72 : 352-353. 1986
|
| 95 | PLP1
|
| The structural gene coding for myelin-associated proteolipid protein is mutated in jimpy mice.
|
| Dautigny A, et al.
|
| Nature 321 : 867-869. 1986
|
| 96 | PLP1, PMDX
|
| Assignment of the gene for myelin proteolipid protein to the X chromosome : implications for X-linked myelin disorders.
|
| Willard HF, et al.
|
| Science 230 : 940-942. 1985
|
| 97 | PLP1
|
| Molecular cloning and nucleotide sequence of a cDNA clone coding for rat brain myelin proteolipid.
|
| Dautigny A, et al.
|
| FEBS Lett 188 : 33-36. 1985
|