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Index > Protein center > GFAP(Gene name) > Human
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  • GFAP (Gene name),
  • Glial fibrillary acidic protein (Protein name ),  GFAP_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    GFAP;
    Protein name:
    Glial fibrillary acidic protein(GFAP);
    Alternative:

    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Interacts with SYNM (By similarity). Isoform 3 interacts with PSEN1 (via N-terminus).
    Function:
    GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells.
    Subcellular Location:
    Cytoplasm Associated with intermediate filaments.
    Protein Attributes:
    Sequence length:
    432
    Sequence:
    50:
    MERRRITSAA | RRSYVSSGEM | MVGGLAPGRR | LGPGTRLSLA | RMPPPLPTRV | 
    100:
    DFSLAGALNA | GFKETRASER | AEMMELNDRF | ASYIEKVRFL | EQQNKALAAE | 
    150:
    LNQLRAKEPT | KLADVYQAEL | RELRLRLDQL | TANSARLEVE | RDNLAQDLAT | 
    200:
    VRQKLQDETN | LRLEAENNLA | AYRQEADEAT | LARLDLERKI | ESLEEEIRFL | 
    250:
    RKIHEEEVRE | LQEQLARQQV | HVELDVAKPD | LTAALKEIRT | QYEAMASSNM | 
    300:
    HEAEEWYRSK | FADLTDAAAR | NAELLRQAKH | EANDYRRQLQ | SLTCDLESLR | 
    350:
    GTNESLERQM | REQEERHVRE | AASYQEALAR | LEEEGQSLKD | EMARHLQEYQ | 
    400:
    DLLNVKLALD | IEIATYRKLL | EGEENRITIP | VQTFSNLQIR | ETSLDTKSVS | 
    432:
    EGHLKRNIVV | KTVEMRDGEV | IKESKQEHKD | VM
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    MIM:
    UniGene:
    Pfam:
    KEGG:
    SMR:
    String:
    Uniprot:
     
    FOR
    ELISA Kit for Human GFAP
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    E0068m
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    ELISA Kit for Human GFAP
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    E0068r
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    ELISA Kit for Human GFAP
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    E0068h
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    ELISA Kit for Human GFAP
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    E0068b
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    Packing:
    96T
    CLIA Kit for Human GFAP
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    U0068b
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human GFAP
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    U0068h
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    MSDS:
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    Packing:
    96T
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    CLIA Kit for Human GFAP
    Cat.:
    U0068r
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    MSDS:
    Please sign in first.
    Packing:
    96T
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    CLIA Kit for Human GFAP
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    U0068m
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    96T
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    Polyclonal Antibody for Human GFAP
    Cat.:
    P0068Rb-m
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human GFAP
    Cat.:
    P0068Rb-r
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human GFAP
    Polyclonal Antibody for Human GFAP
    Cat.:
    P0068Rb-h
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    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human GFAP
    Cat.:
    M0068b
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    Packing:
    40ug
    Monoclonal Antibody for Human GFAP
    Cat.:
    M0068h
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    Packing:
    40ug
    Monoclonal Antibody for Human GFAP
    Cat.:
    M0068m
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    Packing:
    40ug
    Monoclonal Antibody for Human GFAP
    Cat.:
    M0068r
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    Packing:
    40ug
    Protein for Human GFAP
    Protein for Human GFAP
    Protein for Human GFAP
    Protein for Human GFAP

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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      "Molecular cloning and primary structure of human glial fibrillary acidic protein."
      Reeves S.A. , Helman L.J. , Allison A. , Israel M.A.
      Proc. Natl. Acad. Sci. U.S.A.86:5178-5182(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
    2. 2.
      "Characterization of human cDNA and genomic clones for glial fibrillary acidic protein."
      Brenner M. , Lampel K. , Nakatani Y. , Mill J. , Banner C. , Mearow K. , Dohadwala M. , Lipsky R. , Freese E.
      Brain Res. Mol. Brain Res.7:277-286(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
    3. 3.
      "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. , Nister M. , Betsholtz C. , Wang J.-L. , Stenman G. , Huebner K. , Croce C.M. , Westermark B.
      Cancer Res.51:1553-1560(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);TISSUE SPECIFICITY
    4. 4.
      "Human glial fibrillary acidic protein (GFAP): molecular cloning of the complete cDNA sequence and chromosomal localization (chromosome 17) of the GFAP gene."
      Kumanishi T. , Usui H. , Ichikawa T. , Nishiyama A. , Katagiri T. , Abe S. , Yoshida Y. , Washiyama K. , Kuwano R. , Sakimura K.
      Acta Neuropathol.83:569-578(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
    5. 5.
      "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. , Baker M. , Wavrant-De Vrieze F. , Hutton M.
      Genomics51:152-154(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANT ASN-295
    6. 6.
      Han C. , Zhang B. , Zhou Y. , Peng X. , Yuan J. , Qiang B.
      Submitted (2001-09) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
    7. 7.
      "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3)
      tissue: Brain.
      tissue: Thalamus.
    8. 8.
      Suzuki Y. , Sugano S. , Totoki Y. , Toyoda A. , Takeda T. , Sakaki Y. , Tanaka A. , Yokoyama S.
      Submitted (2005-04) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
      tissue: Brain.
    9. 9.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)
      tissue: Kidney.
    10. 11.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    11. 12.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
      tissue: Brain.
    12. 13.
      "An RNA polymerase II promoter containing sequences upstream and downstream from the RNA startpoint that direct initiation of transcription from the same site."
      Nakatani Y. , Brenner M. , Freese E.
      Proc. Natl. Acad. Sci. U.S.A.87:4289-4293(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-76
    13. 14.
      Lubec G. , Chen W.-Q. , Sun Y.
      Submitted (2008-12) to the UniProtKB
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 13-29; 50-63; 96-105; 112-121; 163-173; 189-198; 261-270; 288-300; 331-367 AND 377-390;IDENTIFICATION BY MASS SPECTROMETRY
      tissue: Fetal brain cortex.
    14. 15.
      "Changes in brain gene expression shared by scrapie and Alzheimer disease."
      Duguid J.R. , Bohmont C.W. , Liu N.G. , Tourtellotte W.W.
      Proc. Natl. Acad. Sci. U.S.A.86:7260-7264(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 352-417
    15. 16.
      "A new splice variant of glial fibrillary acidic protein GFAPepsilon, interacts with the presenilin proteins."
      Nielsen A.L. , Holm I.E. , Johansen M. , Bonven B. , Jorgensen P. , Jorgensen A.L.
      J. Biol. Chem.277:29983-29991(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 391-432 (ISOFORM 3);SUBCELLULAR LOCATION;INTERACTION WITH PSEN1
      tissue: Fetal brain.
    16. 17.
      "Genetic polymorphism and sequence evolution of an alternatively spliced exon of the glial fibrillary acidic protein gene, GFAP."
      Singh R. , Nielsen A.L. , Johansen M.G. , Jorgensen A.L.
      Genomics82:185-193(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 391-432 (ISOFORM 3);VARIANTS
      tissue: Blood.
    17. 18.
      "Domain-specific phosphorylation of vimentin and glial fibrillary acidic protein by PKN."
      Matsuzawa K. , Kosako H. , Inagaki N. , Shibata H. , Mukai H. , Ono Y. , Amano M. , Kaibuchi K. , Matsuura Y. , Azuma I. , Inagaki M.
      Biochem. Biophys. Res. Commun.234:621-625(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION
    18. 19.
      "Phosphorylation of glial fibrillary acidic protein at the same sites by cleavage furrow kinase and Rho-associated kinase."
      Kosako H. , Amano M. , Yanagida M. , Tanabe K. , Nishi Y. , Kaibuchi K. , Inagaki M.
      J. Biol. Chem.272:10333-10336(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION AT THR-7; SER-13 AND SER-38
    19. 20.
      "Functional significance of the specific sites phosphorylated in desmin at cleavage furrow: Aurora-B may phosphorylate and regulate type III intermediate filaments during cytokinesis coordinatedly with Rho-kinase."
      Kawajiri A. , Yasui Y. , Goto H. , Tatsuka M. , Takahashi M. , Nagata K. , Inagaki M.
      Mol. Biol. Cell14:1489-1500(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION AT THR-7; SER-13 AND SER-38
    20. 21.
      "Identification and Characterization of citrulline-modified brain proteins by combining HCD and CID fragmentation."
      Jin Z. , Fu Z. , Yang J. , Troncosco J. , Everett A.D. , Van Eyk J.E.
      Proteomics13:2682-2691(2013) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CITRULLINATION AT ARG-30; ARG-36; ARG-270; ARG-406 AND ARG-416
    21. 22.
      "Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease."
      Brenner M. , Johnson A.B. , Boespflug-Tanguy O. , Rodriguez D. , Goldman J.E. , Messing A.
      Nat. Genet.27:117-120(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN ALEXD;VARIANTS ALEXD CYS-79; HIS-79; CYS-239; HIS-239; PRO-258 AND TRP-416;VARIANTS LEU-47 AND ASN-295
    22. 23.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALEXD PHE-76; TYR-77; HIS-79; CYS-88; SER-88; CYS-239 AND HIS-239
    23. 24.
      "A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease."
      Aoki Y. , Haginoya K. , Munakata M. , Yokoyama H. , Nishio T. , Togashi N. , Ito T. , Suzuki Y. , Kure S. , Iinuma K. , Brenner M. , Matsubara Y.
      Neurosci. Lett.312:71-74(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD VAL-244
    24. 25.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALEXD ARG-73; GLY-79; CYS-79; HIS-79; CYS-88; CYS-239; ASP-242; LYS-373 AND TRP-416
    25. 26.
      "Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene."
      Sawaishi Y. , Yano T. , Takaku I. , Takada G.
      Neurology58:1541-1543(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD ASP-362
    26. 27.
      "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.60:1307-1312(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD GLU-78
    27. 28.
      "Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L."
      Shiroma N. , Kanazawa N. , Kato Z. , Shimozawa N. , Imamura A. , Ito M. , Ohtani K. , Oka A. , Wakabayashi K. , Iai M. , Sugai K. , Sasaki M. , Kaga M. , Ohta T. , Tsujino S.
      Brain Dev.25:116-121(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD LEU-79
    28. 29.
      "A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?"
      Brockmann K. , Meins M. , Taubert A. , Trappe R. , Grond M. , Hanefeld F.
      Eur. Neurol.50:100-105(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GLN-223
    29. 30.
      "A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P."
      Suzuki Y. , Kanazawa N. , Takenaka J. , Okumura A. , Negoro T. , Tsujino S.
      Brain Dev.26:206-208(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD PRO-90
    30. 31.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LEU-47; ILE-115; ASN-157 AND GLN-223;VARIANTS ALEXD GLN-63; THR-73; PHE-76; VAL-76; SER-77; CYS-79; CYS-88; PRO-97; LYS-207; GLN-207; LYS-210; PRO-235; CYS-239; HIS-239; PRO-239; VAL-244; GLY-253; GLU-279; PRO-352; VAL-359; PRO-364; HIS-366; LYS-373; GLN-373; GLY-374 AND TRP-416;CHARACTERIZATION OF VARIANTS ALEXD GLN-63; LYS-210; VAL-244 AND GLY-253
    31. 32.
      "A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis."
      Lee J.M. , Kim A.S. , Lee S.J. , Cho S.M. , Lee D.S. , Choi S.M. , Kim D.K. , Ki C.S. , Kim J.W.
      J. Korean Med. Sci.21:954-957(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD LEU-239
    32. 33.
      "Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene."
      Hinttala R. , Karttunen V. , Karttunen A. , Herva R. , Uusimaa J. , Remes A.M.
      Acta Neuropathol.114:543-545(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD PRO-267
    33. 34.
      "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.72:427-433(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALEXD TRP-70; GLN-70; LYS-73; SER-77; CYS-79; PRO-79; CYS-88; HIS-239; PRO-239; PRO-359 AND TRP-416
    34. 35.
      "An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein."
      Ohnari K. , Yamano M. , Uozumi T. , Hashimoto T. , Tsuji S. , Nakagawa M.
      J. Neurol.254:1390-1394(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD THR-74
    35. 36.
      "Clinical and genetic study in Chinese patients with Alexander disease."
      Ye W. , Qiang G. , Jingmin W. , Yanling Y. , Xiru W. , Yuwu J.
      J. Child Neurol.23:173-177(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALEXD HIS-83 AND CYS-88
    36. 37.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALEXD GLY-330 AND LYS-332
    37. 38.
      "Adult-onset Alexander disease with progressive ataxia and palatal tremor."
      Howard K.L. , Hall D.A. , Moon M. , Agarwal P. , Newman E. , Brenner M.
      Mov. Disord.23:118-122(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD CYS-257;CHARACTERIZATION OF VARIANT ALEXD CYS-257
    38. 39.
      "Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia."
      Kaneko H. , Hirose M. , Katada S. , Takahashi T. , Naruse S. , Tsuchiya M. , Yoshida T. , Nakagawa M. , Onodera O. , Nishizawa M. , Ikeuchi T.
      Mov. Disord.24:1393-1395(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD PRO-101
    39. 40.
      "Adult-onset Alexander disease with typical 'tadpole' brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature."
      Namekawa M. , Takiyama Y. , Honda J. , Shimazaki H. , Sakoe K. , Nakano I.
      BMC Neurol.10:21-21(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD LEU-276
    40. 41.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALEXD GLN-66; LYS-72; GLU-86; THR-236; GLN-371; VAL-371 AND GLY-376
    41. 42.
      "Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations."
      Zang L. , Wang J. , Jiang Y. , Gu Q. , Gao Z. , Yang Y. , Xiao J. , Wu Y.
      J. Hum. Genet.58:183-188(2013) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALEXD PHE-76; LYS-77; LEU-79; HIS-79; CYS-79; CYS-88; SER-88; CYS-239; HIS-239; ASP-373; GLN-374 AND PHE-385
    42. 43.
      "Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement."
      Wada Y. , Yanagihara C. , Nishimura Y. , Namekawa M.
      J. Neurol. Sci.331:161-164(2013) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD ASN-78
    43. 44.
      "Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder."
      Nishri D. , Edvardson S. , Lev D. , Leshinsky-Silver E. , Ben-Sira L. , Henneke M. , Lerman-Sagie T. , Blumkin L.
      Eur. J. Paediatr. Neurol.18:495-501(2014) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD TRP-416
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