Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
1 to 22 of 22  Show
  1. 1
    "Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism."
    Corominas R., Yang X., Lin G.N., Kang S., Shen Y., Ghamsari L., Broly M., Rodriguez M., Tam S., Wanamaker S.A., Fan C., Yi S., Tasan M., Lemmens I., Kuang X., Zhao N., Malhotra D., Michaelson J.J.
    Iakoucheva L.M.
    Nat. Commun. 5:3650-3650(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE.
    Category: Sequences.
    Tissue: Adult whole brain.
    Source: UniProtKB/TrEMBL (unreviewed).

    This publication is cited by 323 other entries.

  2. 2
    "LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE."
    Fujimura K., Sawaki H., Sakai T., Hiruma T., Nakanishi N., Sato T., Ohkura T., Narimatsu H.
    Biochem. Biophys. Res. Commun. 329:1162-1171(2005) [PubMed] [Europe PMC] [Abstract]
    Category: Function, PTM / Processing, Interaction.
    Annotation: LARGE2 was found to support the maturation of alpha-dystroglycan more effectively than LARGE.
    Source: GeneRIF:9215.

    This publication is cited by 1 and mapped to 13 other entries.

  3. 3
    Category: Sequences.
    Annotation: Observational study of genotype prevalence. (HuGE Navigator).
    Source: GeneRIF:9215.

    This publication is mapped to 36 other entries.

  4. 4
    "Molecular genetics of successful smoking cessation: convergent genome-wide association study results."
    Uhl G.R., Liu Q.R., Drgon T., Johnson C., Walther D., Rose J.E., David S.P., Niaura R., Lerman C.
    Arch Gen Psychiatry 65:683-693(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Pathology & Biotech.
    Annotation: Clinical trial and genome-wide association study of gene-disease association gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator).
    Source: GeneRIF:9215.

    This publication is mapped to 531 other entries.

  5. 5
    "Loss of alpha-dystroglycan laminin binding in epithelium-derived cancers is caused by silencing of LARGE."
    de Bernabe D.B., Inamori K., Yoshida-Moriguchi T., Weydert C.J., Harper H.A., Willer T., Henry M.D., Campbell K.P.
    J Biol Chem 284:11279-11284(2009) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: LARGE repression is responsible for the defects in dystroglycan-mediated cell adhesion that are observed in epithelium-derived cancer cells and point to a defect of dystroglycan glycosylation as a factor in cancer progression.
    Source: GeneRIF:9215.

    This publication is mapped to 14 other entries.

  6. 6
    Category: Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:9215.

    This publication is cited by 4 and mapped to 35 other entries.

  7. 7
    "Human variation in alcohol response is influenced by variation in neuronal signaling genes."
    Joslyn G., Ravindranathan A., Brush G., Schuckit M., White R.L.
    Alcohol Clin Exp Res 34:800-812(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Pathology & Biotech.
    Annotation: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:9215.

    This publication is mapped to 813 other entries.

  8. 8
    "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score."
    Rose J.E., Behm F.M., Drgon T., Johnson C., Uhl G.R.
    Mol Med 16:247-253(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator).
    Source: GeneRIF:9215.

    This publication is mapped to 11673 other entries.

  9. 9
    "Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study."
    Flachsbart F., Franke A., Kleindorp R., Caliebe A., Blanche H., Schreiber S., Nebel A.
    Mutat Res 694:13-19(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:9215.

    This publication is mapped to 1401 other entries.

  10. 10
    "Transgenic overexpression of LARGE induces alpha-dystroglycan hyperglycosylation in skeletal and cardiac muscle."
    Brockington M., Torelli S., Sharp P.S., Liu K., Cirak S., Brown S.C., Wells D.J., Muntoni F.
    PLoS One 5:e14434-e14434(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Expression.
    Annotation: LARGE has a role in inducing alpha-dystroglycan hyperglycosylation in skeletal and cardiac muscle.
    Source: GeneRIF:9215.

    This publication is mapped to 23 other entries.

  11. 11
    "Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene."
    Clarke N.F., Maugenre S., Vandebrouck A., Urtizberea J.A., Willer T., Peat R.A., Gray F., Bouchet C., Manya H., Vuillaumier-Barrot S., Endo T., Chouery E., Campbell K.P., Megarbane A., Guicheney P.
    Eur J Hum Genet 19:452-457(2011) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: This report extends our knowledge of the clinical phenotype associated with LARGE and is the second family in which disease results from a large-scale gene rearrangement.
    Source: GeneRIF:9215.

    This publication is mapped to 11 other entries.

  12. 12
    Category: Sequences.
    Annotation: This study demonistreated that Intragenic rearrangements in LARGE gene in muscle-eye-brain disease.
    Source: GeneRIF:9215.

    This publication is mapped to 16 other entries.

  13. 13
    "Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection."
    Hara Y., Kanagawa M., Kunz S., Yoshida-Moriguchi T., Satz J.S., Kobayashi Y.M., Zhu Z., Burden S.J., Oldstone M.B., Campbell K.P.
    Proc. Natl. Acad. Sci. U.S.A. 108:17426-17431(2011) [PubMed] [Europe PMC] [Abstract]
    Category: PTM / Processing.
    Annotation: the ligand-binding activity of alpha-dystroglycan is conferred primarily by LARGE modification at Thr-317 and -319 within the highly conserved first 18 amino acids of the mucin-like domain.
    Source: GeneRIF:9215.

    This publication is cited by 1 and mapped to 12 other entries.

  14. 14
    "Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE."
    Inamori K., Yoshida-Moriguchi T., Hara Y., Anderson M.E., Yu L., Campbell K.P.
    Science 335:93-96(2012) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Pathology & Biotech.
    Annotation: LARGE could act as a bifunctional glycosyltransferase with xylosyltransferase and glucuronyltransferase activities which produced repeating units of [-3-xylose-alpha1 3-glucuronic acid-beta1-].
    Source: GeneRIF:9215.

    This publication is mapped to 15 other entries.

  15. 15
    "Identification of antithrombin-modulating genes. Role of LARGE, a gene encoding a bifunctional glycosyltransferase, in the secretion of proteins?"
    de la Morena-Barrio M.E., Buil A., Anton A.I., Martinez-Martinez I., Minano A., Gutierrez-Gallego R., Navarro-Fernandez J., Aguila S., Souto J.C., Vicente V., Soria J.M., Corral J.
    PLoS One 8:e64998-e64998(2013) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: This study suggests LARGE as the first known modifier of plasma antithrombin.
    Source: GeneRIF:9215.

    This publication is mapped to 11 other entries.

  16. 16
    "LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy."
    Goddeeris M.M., Wu B., Venzke D., Yoshida-Moriguchi T., Saito F., Matsumura K., Moore S.A., Campbell K.P.
    Nature 503:136-140(2013) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Pathology & Biotech.
    Annotation: results reveal that the LARGE-glycan of dystroglycan serves as a tunable extracellular matrix protein scaffold the extension of which is required for normal skeletal muscle function.
    Source: GeneRIF:9215.

    This publication is mapped to 13 other entries.

  17. 17
    "Correlation of deregulated like-acetylglucosaminyl transferase and aberrant alpha-dystroglycan expression with human tongue cancer metastasis."
    Zhang H.Z., Xia X.Y., Zhu F., Shen H., Song K., Shang Z.J.
    J Oral Maxillofac Surg 72:1106-1118(2014) [PubMed] [Europe PMC] [Abstract]
    Category: Expression.
    Annotation: results suggest absent alpha-DG expression & LARGE deregulation closely associated w/ nodal metastasis tongue cancer. Aberrant alpha-DG expression & glycosylation attributed to abnormal epigenetic modification of LARGE; hypermethylation of its promoter.
    Source: GeneRIF:9215.

    This publication is mapped to 11 other entries.

  18. 18
    Category: Pathology & Biotech, Sequences.
    Annotation: A homozygous LARGE mutation at Cys443 is identified in patients with dystroglycanopathies whereas the mutation p.Glu509Lys in this study may confer a milder phenotype.
    Source: GeneRIF:9215.

    This publication is mapped to 10 other entries.

  19. 19
    "B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of alpha-dystroglycan."
    Praissman J.L., Live D.H., Wang S., Ramiah A., Chinoy Z.S., Boons G.J., Moremen K.W., Wells L.
    Elife 3:0-0(2014) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated alpha-dystroglycan.
    Source: GeneRIF:9215.

    This publication is cited by 2 and mapped to 20 other entries.

  20. 20
    "The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated alpha-dystroglycan functional glycosylation."
    Willer T., Inamori K.I., Venzke D., Harvey C., Morgensen G., Hara Y., Beltran Valero de Bernabe D., Yu L., Wright K.M., Campbell K.P.
    Elife 3:0-0(2014) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: A glucuronic acid beta1 4-xylose disaccharide synthesized by B4GAT1 acts as an acceptor primer that can be elongated by LARGE with the ligand-binding heteropolysaccharide.
    Source: GeneRIF:9215.

    This publication is cited by 5 and mapped to 22 other entries.

  21. 21
    "Common fragile sites (CFS) and extremely large CFS genes are targets for human papillomavirus integrations and chromosome rearrangements in oropharyngeal squamous cell carcinoma."
    Gao G., Johnson S.H., Vasmatzis G., Pauley C.E., Tombers N.M., Kasperbauer J.L., Smith D.I.
    Genes Chromosomes Cancer 56:59-74(2017) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Large1 gene is a target for human papillomavirus integrations and chromosome rearrangements in oropharyngeal squamous cell carcinoma.
    Source: GeneRIF:9215.

    This publication is mapped to 32 other entries.

  22. 22
    "Exogenous expression of the glycosyltransferase LARGE1 restores alpha-dystroglycan matriglycan and laminin binding in rhabdomyosarcoma."
    Beltran D., Anderson M.E., Bharathy N., Settelmeyer T.P., Svalina M.N., Bajwa Z., Shern J.F., Gultekin S.H., Cuellar M.A., Yonekawa T., Keller C., Campbell K.P.
    Skelet Muscle 9:11-11(2019) [PubMed] [Europe PMC] [Abstract]
    Annotation: findings demonstrate that a lack of matriglycan on alpha-dystroglycan is a common feature in rhabdomyosarcoma due to the downregulation of LARGE1 and that ectopic expression of LARGE1 can restore matriglycan modifications and the ability of alpha-dystroglycan to function as an extracellular matrix receptor.
    Source: GeneRIF:9215.

    This publication is mapped to 11 other entries.

1 to 22 of 22  Show
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again