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Index > Protein center > SLC2A1(Gene name) > Human
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  • SLC2A1 (Gene name),
  • Solute carrier family 2, facilitated glucose transporter member 1 (Protein name ),  GTR1_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    SLC2A1(GLUT1);
    Protein name:
    Solute carrier family 2, facilitated glucose transporter member 1;
    Alternative:
    HepG2 glucose transporter;Glucose transporter type 1, erythrocyte/brain(GLUT-1);
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    N/A
    Function:
    Facilitative glucose transporter. This isoform may be responsible for constitutive or basal glucose uptake. Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses.
    Subcellular Location:
    Cell membrane Multi-pass membrane protein Melanosome Localizes primarily at the cell surface (By similarity). Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
    Protein Attributes:
    Sequence length:
    492
    Sequence:
    50:
    MEPSSKKLTG | RLMLAVGGAV | LGSLQFGYNT | GVINAPQKVI | EEFYNQTWVH | 
    100:
    RYGESILPTT | LTTLWSLSVA | IFSVGGMIGS | FSVGLFVNRF | GRRNSMLMMN | 
    150:
    LLAFVSAVLM | GFSKLGKSFE | MLILGRFIIG | VYCGLTTGFV | PMYVGEVSPT | 
    200:
    ALRGALGTLH | QLGIVVGILI | AQVFGLDSIM | GNKDLWPLLL | SIIFIPALLQ | 
    250:
    CIVLPFCPES | PRFLLINRNE | ENRAKSVLKK | LRGTADVTHD | LQEMKEESRQ | 
    300:
    MMREKKVTIL | ELFRSPAYRQ | PILIAVVLQL | SQQLSGINAV | FYYSTSIFEK | 
    350:
    AGVQQPVYAT | IGSGIVNTAF | TVVSLFVVER | AGRRTLHLIG | LAGMAGCAIL | 
    400:
    MTIALALLEQ | LPWMSYLSIV | AIFGFVAFFE | VGPGPIPWFI | VAELFSQGPR | 
    450:
    PAAIAVAGFS | NWTSNFIVGM | CFQYVEQLCG | PYVFIIFTVL | LVLFFIFTYF | 
    492:
    KVPETKGRTF | DEIASGFRQG | GASQSDKTPE | ELFHPLGADS | QV
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
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    Related Databases
    Pfam:
    SMR:
    KEGG:
    MIM:
    UniGene:
    String:
    Uniprot:
     
    FOR
    ELISA Kit for Human Solute carrier family 2, facilitated glucose transporter member 1
    Cat.:
    E1185r
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    96T
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    ELISA Kit for Human Solute carrier family 2, facilitated glucose transporter member 1
    Cat.:
    E1185b
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    MSDS:
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    96T
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    ELISA Kit for Human Solute carrier family 2, facilitated glucose transporter member 1
    Cat.:
    E1185h
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    ELISA Kit for Human Solute carrier family 2, facilitated glucose transporter member 1
    Cat.:
    E1185p
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    MSDS:
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    96T
    ELISA Kit for Human Solute carrier family 2, facilitated glucose transporter member 1
    Cat.:
    E1185c
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    Packing:
    96T
    ELISA Kit for Human Solute carrier family 2, facilitated glucose transporter member 1
    MSDS:
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    ELISA Kit for Human Solute carrier family 2, facilitated glucose transporter member 1
    Cat.:
    E1185m
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    Packing:
    96T
    CLIA Kit for Human Solute carrier family 2, facilitated glucose transporter member 1
    Cat.:
    U1185c
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    Packing:
    96T
    CLIA Kit for Human Solute carrier family 2, facilitated glucose transporter member 1
    Cat.:
    U1185m
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human Solute carrier family 2, facilitated glucose transporter member 1
    Cat.:
    U1185h
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    MSDS:
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    Packing:
    96T
    Range:
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    CLIA Kit for Human Solute carrier family 2, facilitated glucose transporter member 1
    Cat.:
    U1185b
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    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
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    CLIA Kit for Human Solute carrier family 2, facilitated glucose transporter member 1
    MSDS:
    Please sign in first.
    CLIA Kit for Human Solute carrier family 2, facilitated glucose transporter member 1
    Cat.:
    U1185p
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Solute carrier family 2, facilitated glucose transporter member 1
    Cat.:
    U1185r
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    MSDS:
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    Packing:
    96T
    Polyclonal Antibody for Human Solute carrier family 2, facilitated glucose transporter member 1
    Polyclonal Antibody for Human Solute carrier family 2, facilitated glucose transporter member 1
    Cat.:
    P1185Rb-h
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Solute carrier family 2, facilitated glucose transporter member 1
    Polyclonal Antibody for Human Solute carrier family 2, facilitated glucose transporter member 1
    Cat.:
    P1185Rb-r
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Solute carrier family 2, facilitated glucose transporter member 1
    Cat.:
    P1185Rb-m
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Solute carrier family 2, facilitated glucose transporter member 1
    Polyclonal Antibody for Human Solute carrier family 2, facilitated glucose transporter member 1
    Monoclonal Antibody for Human Solute carrier family 2, facilitated glucose transporter member 1
    Monoclonal Antibody for Human Solute carrier family 2, facilitated glucose transporter member 1
    Monoclonal Antibody for Human Solute carrier family 2, facilitated glucose transporter member 1
    Monoclonal Antibody for Human Solute carrier family 2, facilitated glucose transporter member 1
    Monoclonal Antibody for Human Solute carrier family 2, facilitated glucose transporter member 1
    Monoclonal Antibody for Human Solute carrier family 2, facilitated glucose transporter member 1
    Monoclonal Antibody for Human Solute carrier family 2, facilitated glucose transporter member 1
    Protein for Human Solute carrier family 2, facilitated glucose transporter member 1
    Protein for Human Solute carrier family 2, facilitated glucose transporter member 1
    Protein for Human Solute carrier family 2, facilitated glucose transporter member 1
    Protein for Human Solute carrier family 2, facilitated glucose transporter member 1
    Protein for Human Solute carrier family 2, facilitated glucose transporter member 1
    Protein for Human Solute carrier family 2, facilitated glucose transporter member 1
    Protein for Human Solute carrier family 2, facilitated glucose transporter member 1

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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      [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];PARTIAL PROTEIN SEQUENCE;GLYCOSYLATION AT ASN-45;LACK OF GLYCOSYLATION AT ASN-411;IDENTIFICATION BY MASS SPECTROMETRY
    2. 2.
      "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]
      tissue: Brain.
      tissue: Trachea.
    3. 3.
      [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]
    4. 4.
      "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]
    5. 5.
      "Characterization and expression of human HepG2/erythrocyte glucose-transporter gene."
      Fukumoto H. , Seino S. , Imura H. , Seino Y. , Bell G.I.
      Diabetes37:657-661(1988) [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 [GENOMIC DNA] OF 1-6
    6. 6.
      Yu W. , Gibbs R.A.
      Submitted (1998-06) 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] OF 150-492
      tissue: Brain.
    7. 7.
      "Molecular characterization and cloning of glucose transporters in human articular chondrocytes."
      Neama G. , Richardson S. , Bell S. , Carter S. , Mobasheri A.
      Submitted (2001-05) 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] OF 294-423
      tissue: Articular cartilage.
    8. 8.
      "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes."
      Chi A. , Valencia J.C. , Hu Z.-Z. , Watabe H. , Yamaguchi H. , Mangini N.J. , Huang H. , Canfield V.A. , Cheng K.C. , Yang F. , Abe R. , Yamagishi S. , Shabanowitz J. , Hearing V.J. , Wu C. , Appella E. , Hunt D.F.
      J. Proteome Res.5:3135-3144(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: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]
      tissue: Melanoma.
    9. 9.
      "Transmembrane segment 6 of the Glut1 glucose transporter is an outer helix and contains amino acid side chains essential for transport activity."
      Mueckler M. , Makepeace C.
      J. Biol. Chem.283:11550-11555(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: FUNCTION;SUBCELLULAR LOCATION;MUTAGENESIS OF ILE-192; LEU-204 AND PRO-205
    10. 10.
      "Dematin and adducin provide a novel link between the spectrin cytoskeleton and human erythrocyte membrane by directly interacting with glucose transporter-1."
      Khan A.A. , Hanada T. , Mohseni M. , Jeong J.J. , Zeng L. , Gaetani M. , Li D. , Reed B.C. , Speicher D.W. , Chishti A.H.
      J. Biol. Chem.283:14600-14609(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: IDENTIFICATION IN A COMPLEX WITH ADD2 AND DMTN;INTERACTION WITH DMTN;IDENTIFICATION BY MASS SPECTROMETRY
    11. 11.
      "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H. , Olsen J.V. , Bairlein M. , Gnad F. , Oppermann F.S. , Korner R. , Greff Z. , Keri G. , Stemmann O. , Mann M.
      Mol. Cell31:438-448(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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    12. 12.
      "Model of the exofacial substrate-binding site and helical folding of the human Glut1 glucose transporter based on scanning mutagenesis."
      Mueckler M. , Makepeace C.
      Biochemistry48:5934-5942(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: FUNCTION;SUBCELLULAR LOCATION;MUTAGENESIS OF GLY-340
    13. 13.
      "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins."
      Wollscheid B. , Bausch-Fluck D. , Henderson C. , O'Brien R. , Bibel M. , Schiess R. , Aebersold R. , Watts J.D.
      Nat. Biotechnol.27:378-386(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: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-45
      tissue: Leukemic T-cell.
    14. 14.
      "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V. , Vermeulen M. , Santamaria A. , Kumar C. , Miller M.L. , Jensen L.J. , Gnad F. , Cox J. , Jensen T.S. , Nigg E.A. , Brunak S. , Mann M.
      Sci. Signal.3:RA3-RA3(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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-478;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    15. 15.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    16. 16.
      "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T. , Prokhorova T.A. , Akimov V. , Henningsen J. , Johansen P.T. , Kratchmarova I. , Kassem M. , Mann M. , Olsen J.V. , Blagoev B.
      Sci. Signal.4:RS3-RS3(2011) [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 [LARGE SCALE ANALYSIS] AT SER-490;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    17. 17.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    18. 18.
      "Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains."
      Rungaldier S. , Oberwagner W. , Salzer U. , Csaszar E. , Prohaska R.
      Biochim. Biophys. Acta1828:956-966(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: SUBCELLULAR LOCATION;TISSUE SPECIFICITY;INTERACTION WITH STOM;SUBUNIT
    19. 19.
      "A global analysis of SNX27-retromer assembly and cargo specificity reveals a function in glucose and metal ion transport."
      Steinberg F. , Gallon M. , Winfield M. , Thomas E.C. , Bell A.J. , Heesom K.J. , Tavare J.M. , Cullen P.J.
      Nat. Cell Biol.15:461-471(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: INTERACTION WITH SNX27
    20. 20.
      "Crystal structure of the human glucose transporter GLUT1."
      Deng D. , Xu C. , Sun P. , Wu J. , Yan C. , Hu M. , Yan N.
      Nature510:121-125(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: X-RAY CRYSTALLOGRAPHY (3.2 ANGSTROMS) OF VARIANT GLUT1DS1 GLN-329 IN COMPLEX WITH NONYL-BETA-D-GLUCOSIDE;SUBCELLULAR LOCATION;TOPOLOGY;MUTAGENESIS OF ASN-45
    21. 21.
      "Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome."
      Klepper J. , Wang D. , Fischbarg J. , Vera J.C. , Jarjour I.T. , O'Driscoll K.R. , De Vivo D.C.
      Neurochem. Res.24:587-594(1999) [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 GLUT1DS1 ILE-310
    22. 22.
      "Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome."
      Wang D. , Kranz-Eble P. , De Vivo D.C.
      Hum. Mutat.16:224-231(2000) [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 GLUT1DS1 PHE-66; LEU-126; LYS-146; GLU-256 AND TRP-333
    23. 23.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
    24. 24.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GLUT1DS1 HIS-126
    25. 25.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GLUT1DS1 ASP-91
    26. 26.
      "Imaging the metabolic footprint of Glut1 deficiency on the brain."
      Pascual J.M. , van Heertum R.L. , Wang D. , Engelstad K. , De Vivo D.C.
      Ann. Neurol.52:458-464(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: VARIANTS GLUT1DS1 CYS-126; HIS-126; LYS-146; CYS-153 AND TRP-333
    27. 27.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GLUT1DS2 ILE-34
    28. 28.
      "Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects."
      Wang D. , Pascual J.M. , Yang H. , Engelstad K. , Jhung S. , Sun R.P. , De Vivo D.C.
      Ann. Neurol.57:111-118(2005) [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 GLUT1DS1 SER-34; HIS-126; SER-130; CYS-153; LEU-169 DEL; MET-295 AND TRP-333;CHARACTERIZATION OF VARIANTS GLUT1 DEFICIENCY SER-34; HIS-126; SER-130; CYS-153; LEU-169 DEL; MET-295 AND TRP-333
    29. 29.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GLUT1DS2 THR-275; 282-GLN--SER-285 DEL AND SER-314
    30. 30.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EIG12 PRO-223;VARIANTS GLUT1DS2 CYS-126 AND LEU-324;CHARACTERIZATION OF VARIANT EIG12 PRO-223;CHARACTERIZATION OF VARIANTS GLUT1DS2 CYS-126 AND LEU-324
    31. 31.
      "Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome."
      Perez-Duenas B. , Prior C. , Ma Q. , Fernandez-Alvarez E. , Setoain X. , Artuch R. , Pascual J.M.
      Arch. Neurol.66:1410-1414(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 GLUT1DS1 TYR-292 INS
    32. 32.
      "GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias."
      Schneider S.A. , Paisan-Ruiz C. , Garcia-Gorostiaga I. , Quinn N.P. , Weber Y.G. , Lerche H. , Hardy J. , Bhatia K.P.
      Mov. Disord.24:1684-1688(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: VARIANTS GLUT1DS2 TRP-92 AND GLN-333
    33. 33.
      "Autosomal recessive inheritance of GLUT1 deficiency syndrome."
      Klepper J. , Scheffer H. , Elsaid M.F. , Kamsteeg E.J. , Leferink M. , Ben-Omran T.
      Neuropediatrics40:207-210(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 GLUT1DS1 TRP-468
    34. 34.
      "Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder."
      Leen W.G. , Klepper J. , Verbeek M.M. , Leferink M. , Hofste T. , van Engelen B.G. , Wevers R.A. , Arthur T. , Bahi-Buisson N. , Ballhausen D. , Bekhof J. , van Bogaert P. , Carrilho I. , Chabrol B. , Champion M.P. , Coldwell J. , Clayton P. , Donner E. , more...
      Brain133:655-670(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: VARIANTS GLUT1DS1 TYR-34; VAL-96; SER-130; VAL-155; CYS-212; HIS-212; TRP-223; MET-295; GLN-329; GLN-333; ASP-382; ASP-405 AND LEU-485;VARIANTS GLUT1DS2 TRP-93 AND HIS-153;VARIANT LEU-303
    35. 35.
      "Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency."
      Afawi Z. , Suls A. , Ekstein D. , Kivity S. , Neufeld M.Y. , Oliver K. , De Jonghe P. , Korczyn A.D. , Berkovic S.F.
      Epilepsia51:2466-2469(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 GLUT1DS2 THR-317
    36. 36.
      "Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation."
      Urbizu A. , Cuenca-Leon E. , Raspall-Chaure M. , Gratacos M. , Conill J. , Redecillas S. , Roig-Quilis M. , Macaya A.
      J. Neurol. Sci.295:110-113(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 GLUT1DS2 ILE-165
    37. 37.
      "Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency."
      Mullen S.A. , Suls A. , De Jonghe P. , Berkovic S.F. , Scheffer I.E.
      Neurology75:432-440(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: VARIANTS GLUT1DS2 ILE-95; PRO-223; SER-314 AND LEU-324;VARIANTS GLUT1DS1 ASP-91 AND HIS-126
    38. 38.
      "Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency."
      Anheim M. , Maillart E. , Vuillaumier-Barrot S. , Flamand-Rouviere C. , Pineau F. , Ewenczyk C. , Riant F. , Apartis E. , Roze E.
      J. Neurol.258:316-317(2011) [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 GLUT1DS2 PRO-294
    39. 39.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DYT9 CYS-126 AND CYS-212
    40. 40.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EIG12 CYS-232;CHARACTERIZATION OF VARIANT EIG12 CYS-232
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