Citations for
1ALXD1, GFAP
Protein misfolding and oxidative stress promote glial-mediated neurodegeneration in an Alexander disease model.
Wang L, Colodner KJ, Feany MB.
J Neurosci 31(8):2868-77. 2011
2GFAP, PAX3
Downregulation of Pax3 expression correlates with acquired GFAP expression during NSC differentiation towards astrocytes.
Liu Y, Zhu H, Liu M, Du J, Qian Y, Wang Y, Ding F, Gu X.
FEBS Lett 585(7):1014-20. Epub 2011 Mar 1. 2011
3ALXD1, GFAP
GFAP mutations, age at onset, and clinical subtypes in Alexander disease.
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.
Neurology 77(13):1287-94. Epub 2011 Sep 14. 2011
4GFAP, SIN3A
Interplay between SIN3A and STAT3 mediates chromatin conformational changes and GFAP expression during cellular differentiation.
Cheng PY, Lin YP, Chen YL, Lee YC, Tai CC, Wang YT, Chen YJ, Kao CF, Yu J.
PLoS One 6(7):e22018. Epub 2011 Jul 11. 2011
5GFAP
Glial fibrillary acidic protein: a potential biomarker for progression in multiple sclerosis.
Axelsson M, Malmeström C, Nilsson S, Haghighi S, Rosengren L, Lycke J.
J Neurol 258(5):882-8. Epub 2011 Jan 1. 2011
6ALXD1, GFAP
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.
Chen YS, Lim SC, Chen MH, Quinlan RA, Perng MD.
Exp Cell Res 317(16):2252-66. doi: 10.1016/j.yexcr.2011.06.017. Epub 2011 Jul 2. 2011
7ALXD1, GFAP
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.
Tang G, Perng MD, Wilk S, Quinlan R, Goldman JE.
J Biol Chem 285(14):10527-37. Epub 2010 Jan 28. 2010
8GFAP
Synergistic effect of retinoic acid and cytokines on the regulation of glial fibrillary acidic protein expression.
Herrera F, Chen Q, Schubert D.
J Biol Chem 285(50):38915-22. Epub 2010 Sep 28. 2010
9GFAP
GFAPdelta in radial glia and subventricular zone progenitors in the developing human cortex.
Middeldorp J, Boer K, Sluijs JA, De Filippis L, Encha-Razavi F, Vescovi AL, Swaab DF, Aronica E, Hol EM.
Development 137(2):313-21. 2010
10ALXD1, CRYAB, GFAP
Suppression of GFAP toxicity by {alpha}B-crystallin in mouse models of Alexander disease.
Hagemann TL, Boelens WC, Wawrousek EF, Messing A.
Hum Mol Genet um Mol Genet. 2009 Jan 7. [Epub ahead of print] 2009
11GFAP
Enhanced glial fibrillary acidic protein-delta expression in human astrocytic tumor.
Choi KC, Kwak SE, Kim JE, Sheen SH, Kang TC.
Neurosci Lett 463(3):182-7. Epub 2009 Jul 30. 2009
12GFAP
Expression patterns of glial fibrillary acidic protein (GFAP)-delta in epilepsy-associated lesional pathologies.
Martinian L, Boer K, Middeldorp J, Hol EM, Sisodiya SM, Squier W, Aronica E, Thom M.
Neuropathol Appl Neurobiol 35(4):394-405. 2009
13GFAP
Precursors with glial fibrillary acidic protein promoter activity transiently generate GABA interneurons in the postnatal cerebellum.
Silbereis J, Cheng E, Ganat YM, Ment LR, Vaccarino FM.
Stem Cells 27(5):1152-63. 2009
14GFAP, ALXD1
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease.
Bachetti T, Caroli F, Bocca P, Prigione I, Balbi P, Biancheri R, Filocamo M, Mariotti C, Pareyson D, Ravazzolo R, Ceccherini I.
Eur J Hum Genet 16(4):462-70. Epub 2008 Jan 16. 2008
15GFAP, ALXD1
Autophagy induced by Alexander disease-mutant GFAP accumulation is regulated by p38/MAPK and mTOR signaling pathways.
Tang G, Yue Z, Talloczy Z, Hagemann T, Cho W, Messing A, Sulzer DL, Goldman JE.
Hum Mol Genet 17(11):1540-55. Epub 2008 Feb 14. 2008
16GFAP, ALXD1
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
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.
Clin Genet 72(5):427-33. Epub 2007 Sep 25. 2007
17GFAP, SYNM, VIM
Synemin is expressed in reactive astrocytes in neurotrauma and interacts differentially with vimentin and GFAP intermediate filament networks.
Jing R, Wilhelmsson U, Goodwill W, Li L, Pan Y, Pekny M, Skalli O.
J Cell Sci 120(Pt 7):1267-77. Epub 2007 Mar 13. 2007
18ALXD1, GFAP
A novel mutation in the GFAP gene in a familial adult onset Alexander disease.
Salmaggi A, Botturi A, Lamperti E, Grisoli M, Fischetto R, Ceccherini I, Caroli F, Boiardi A.
J Neurol 254(9):1278-80. Epub 2007 Aug 16. No abstract available. 2007
19ALXD1, GFAP
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.
Hartmann H, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lücke T, Das AM, Christen HJ, Hagedorn M, Meins M.
Neuropediatrics 38(3):143-7.PMID: 17985264 2007
20ALXD1, GFAP
Propensity for paternal inheritance of de novo mutations in Alexander disease.
Li R, Johnson AB, Salomons GS, van der Knaap MS, Rodriguez D, Boespflug-Tanguy O, Gorospe JR, Goldman JE, Messing A, Brenner M.
Hum Genet 119(1-2):137-44. Epub 2005 Dec 20. 2006
21ALXD1, GFAP, CRYAB, HSPB1
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.
Der Perng M, Su M, Wen SF, Li R, Gibbon T, Prescott AR, Brenner M, Quinlan RA.
Am J Hum Genet 79(2):197-213. Epub 2006 Jun 12. 2006
22NFIX, GFAP
Nuclear factor-1-X regulates astrocyte-specific expression of the alpha1-antichymotrypsin and glial fibrillary acidic protein genes.
Gopalan SM, Wilczynska KM, Konik BS, Bryan L, Kordula T.
J Biol Chem 281(19):13126-33. Epub 2006 Mar 23. 2006
23ALXD1, GFAP
An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP.
Asahina N, Okamoto T, Sudo A, Kanazawa N, Tsujino S, Saitoh S.
Brain Dev 28(2):131-3. Epub 2005 Sep 15. 2006
24GFAP
Loss of glial fibrillary acidic protein (GFAP) impairs Schwann cell proliferation and delays nerve regeneration after damage.
Triolo D, Dina G, Lorenzetti I, Malaguti M, Morana P, Del Carro U, Comi G, Messing A, Quattrini A, Previtali SC.
J Cell Sci 119(Pt 19):3981-93. 2006
25GFAP, ALXD1
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.
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.
Ann Neurol 57(3):310-26. 2005
26GFAP
Genetic polymorphism and sequence evolution of an alternatively spliced exon of the glial fibrillary acidic protein gene, GFAP.
Singh R, Nielsen AL, Johansen MG, Jorgensen AL.
Genomics 82(2):185-93. 2003
27GFAP, ALXD1
Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.
Stumpf E, Masson H, Duquette A, Berthelet F, McNabb J, Lortie A, Lesage J, Montplaisir J, Brais B, Cossette P.
Arch Neurol 60(9):1307-12. 2003
28GFAP, ALXD1
Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene.
Sawaishi Y, Yano T, Takaku I, Takada G.
Neurology 58(10):1541-3. 2002
29GFAP, ALXD1
Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease.
Namekawa M, Takiyama Y, Aoki Y, Takayashiki N, Sakoe K, Shimazaki H, Taguchi T, Tanaka Y, Nishizawa M, Saito K, Matsubara Y, Nakano I.
Ann Neurol 52(6):779-85. 2002
30ALXD1, GFAP
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.
Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A.
Nat Genet 27(1):117-20. 2001
31ALXD1, GFAP
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.
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.
Am J Hum Genet 69(5):1134-40. 2001
32GFAP, S100A1
Role of the C-terminal extension in the interaction of S100A1 with GFAP, tubulin, the S100A1- and S100B-inhibitory peptide, TRTK-12, and a peptide derived from p53, and the S100A1 inhibitory effect on GFAP polymerization.
Garbuglia M, et al.
Biochem Biophys Res Commun 254(1):36-41. 1999
33GFAP
Determination of the gene structure of human GFAP and absence of coding region mutations associated with frontotemporal dementia with parkinsonism linked to chromosome 17.
Isaacs A, et al.
Genomics 51 : 152-154. 1998
34FAM104A, GFAP, NAP1L1, NUCB1, SERPINB8, PRPF4, SATB1, SRP14, PHLDA1, MED19, S100A16
Mapping and characterization of novel (CAG)n repeat cDNAs from adult human brain derived by the oligo capture method.
Reddy PH, Stockburger E, Gillevet P, Tagle DA.
Genomics 46(2):174-82. 1997
35GFAP
Glial fibrillary acid protein, an astrocytic-specific marker, maps to human chromosome 17.
Brownell E, et al.
Genomics 10 : 1087-1089. 1991
36GFAP
Mapping of glial fibrillary acidic protein gene (GFAP) to human chromosome 17.
Minoshima S, et al.
(HGM11) Cytogenet Cell Genet 58 : 2007. 1991
37GFAP
Human glial fibrillary acidic protein : complementary DNA cloning, chromosome localization, and messenger RNA expression in human glioma cell lines of various phenotypes.
Bongcam-Rudloff E, et al.
Cancer Res 51 : 1553-1560. 1991