| 1 | ALXD1, GFAP
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| Mutations in GFAP Disrupt the Distribution and Function of Organelles in Human Astrocytes.
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| Jones JR, Kong L, Hanna MG 4th, Hoffman B, Krencik R, Bradley R, Hagemann T, Choi J, Doers M, Dubovis M, Sherafat MA, Bhattacharyya A, Kendziorski C, Audhya A, Messing A, Zhang SC.
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| Cell Rep 25(4):947-958.e4. doi: 10.1016/j.celrep.2018.09.083.
2018
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| 2 | ALXD1, GFAP
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| Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model.
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| Lee SH, Nam TS, Kim KH, Kim JH, Yoon W, Heo SH, Kim MJ, Shin BA, Perng MD, Choy HE, Jo J, Kim MK, Choi SY.
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| BMC Neurol 17(1):175. doi: 10.1186/s12883-017-0938-7.
2017
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| 3 | ALXD1, GFAP
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| Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease.
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| Nam TS, Kim JH, Chang CH, Yoon W, Jung YS, Kang SY, Shin BA, Perng MD, Choi SY, Kim MK.
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| Eur J Hum Genet 23(1):72-8. doi: 10.1038/ejhg.2014.68. Epub 2014 Apr 23.
2015
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| 4 | ALXD1, GFAP
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| Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease.
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| Yoshida T, Mizuta I, Saito K, Ohara R, Kurisaki H, Ohnari K, Riku Y, Hayashi Y, Suzuki H, Shii H, Fujiwara Y, Yonezu T, Nagaishi A, Nakagawa M.
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| J Hum Genet 58(9):635-8. doi: 10.1038/jhg.2013.83. Epub 2013 Aug 1.
2013
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| 5 | ALXD1, GFAP
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| Protein misfolding and oxidative stress promote glial-mediated neurodegeneration in an Alexander disease model.
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| Wang L, Colodner KJ, Feany MB.
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| J Neurosci 31(8):2868-77.
2011
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| 6 | ALXD1, GFAP
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| GFAP mutations, age at onset, and clinical subtypes in Alexander disease.
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| Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, Albin R, Amartino H, Brockman K, Dinopoulos A, Dotti MT, Fain D, Fernandez R, Ferreira J, Fleming J, Gill D, Griebel M, Heilstedt H, Kaplan P, Lewis D, Nakagawa M, Pedersen R, Reddy A, Sawaishi Y, Schneider M, Sherr E, Takiyama Y, Wakabayashi K, Gorospe JR, Vanderver A.
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| Neurology 77(13):1287-94. Epub 2011 Sep 14.
2011
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| 7 | ALXD1, GFAP
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| Alexander disease causing mutations in the C-terminal domain of GFAP are deleterious both to assembly and network formation with the potential to both activate caspase 3 and decrease cell viability.
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| Chen YS, Lim SC, Chen MH, Quinlan RA, Perng MD.
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| Exp Cell Res 317(16):2252-66. doi: 10.1016/j.yexcr.2011.06.017. Epub 2011 Jul 2.
2011
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| 8 | ALXD1, GFAP
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| Oligomers of mutant glial fibrillary acidic protein (GFAP) Inhibit the proteasome system in alexander disease astrocytes, and the small heat shock protein alphaB-crystallin reverses the inhibition.
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| Tang G, Perng MD, Wilk S, Quinlan R, Goldman JE.
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| J Biol Chem 285(14):10527-37. Epub 2010 Jan 28.
2010
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| 9 | ALXD1, CRYAB, GFAP
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| Suppression of GFAP toxicity by {alpha}B-crystallin in mouse models of Alexander disease.
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| Hagemann TL, Boelens WC, Wawrousek EF, Messing A.
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| Hum Mol Genet um Mol Genet. 2009 Jan 7. [Epub ahead of print]
2009
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| 10 | GFAP, ALXD1
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| Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease.
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| Bachetti T, Caroli F, Bocca P, Prigione I, Balbi P, Biancheri R, Filocamo M, Mariotti C, Pareyson D, Ravazzolo R, Ceccherini I.
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| Eur J Hum Genet 16(4):462-70. Epub 2008 Jan 16. 2008
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| 11 | GFAP, ALXD1
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| Autophagy induced by Alexander disease-mutant GFAP accumulation is regulated by p38/MAPK and mTOR signaling pathways.
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| Tang G, Yue Z, Talloczy Z, Hagemann T, Cho W, Messing A, Sulzer DL, Goldman JE.
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| Hum Mol Genet 17(11):1540-55. Epub 2008 Feb 14. 2008
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| 12 | GFAP, ALXD1
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| GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
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| Caroli F, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.
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| Clin Genet 72(5):427-33. Epub 2007 Sep 25. 2007
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| 13 | ALXD1, GFAP
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| A novel mutation in the GFAP gene in a familial adult onset Alexander disease.
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| Salmaggi A, Botturi A, Lamperti E, Grisoli M, Fischetto R, Ceccherini I, Caroli F, Boiardi A.
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| J Neurol 254(9):1278-80. Epub 2007 Aug 16. No abstract available.
2007
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| 14 | ALXD1, GFAP
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| Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease.
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| Hartmann H, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lücke T, Das AM, Christen HJ, Hagedorn M, Meins M.
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| Neuropediatrics 38(3):143-7.PMID: 17985264 2007
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| 15 | ALXD1, GFAP
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| Propensity for paternal inheritance of de novo mutations in Alexander disease.
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| Li R, Johnson AB, Salomons GS, van der Knaap MS, Rodriguez D, Boespflug-Tanguy O, Gorospe JR, Goldman JE, Messing A, Brenner M.
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| Hum Genet 119(1-2):137-44. Epub 2005 Dec 20. 2006
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| 16 | ALXD1, GFAP, CRYAB, HSPB1
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| The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27.
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| Der Perng M, Su M, Wen SF, Li R, Gibbon T, Prescott AR, Brenner M, Quinlan RA.
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| Am J Hum Genet 79(2):197-213. Epub 2006 Jun 12. 2006
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| 17 | ALXD1, GFAP
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| An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP.
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| Asahina N, Okamoto T, Sudo A, Kanazawa N, Tsujino S, Saitoh S.
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| Brain Dev 28(2):131-3. Epub 2005 Sep 15. 2006
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| 18 | GFAP, ALXD1
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| Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.
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| Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutierrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.
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| Ann Neurol 57(3):310-26. 2005
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| 19 | GFAP, ALXD1
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| Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.
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| Stumpf E, Masson H, Duquette A, Berthelet F, McNabb J, Lortie A, Lesage J, Montplaisir J, Brais B, Cossette P.
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| Arch Neurol 60(9):1307-12. 2003
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| 20 | GFAP, ALXD1
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| Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene.
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| Sawaishi Y, Yano T, Takaku I, Takada G.
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| Neurology 58(10):1541-3. 2002
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| 21 | GFAP, ALXD1
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| Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease.
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| Namekawa M, Takiyama Y, Aoki Y, Takayashiki N, Sakoe K, Shimazaki H, Taguchi T, Tanaka Y, Nishizawa M, Saito K, Matsubara Y, Nakano I.
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| Ann Neurol 52(6):779-85. 2002
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| 22 | ALXD1, GFAP
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| Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.
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| Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A.
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| Nat Genet 27(1):117-20. 2001
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| 23 | ALXD1, GFAP
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| Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.
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| Rodriguez D, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O.
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| Am J Hum Genet 69(5):1134-40. 2001
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